{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T14:09:38Z","timestamp":1790172578643,"version":"4.1.0"},"reference-count":181,"publisher":"Elsevier BV","issue":"20","license":[{"start":{"date-parts":[[2018,11,1]],"date-time":"2018-11-01T00:00:00Z","timestamp":1541030400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,11,1]],"date-time":"2018-11-01T00:00:00Z","timestamp":1541030400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2019,11,13]],"date-time":"2019-11-13T00:00:00Z","timestamp":1573603200000},"content-version":"vor","delay-in-days":377,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jacc.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the American College of Cardiology"],"published-print":{"date-parts":[[2018,11]]},"DOI":"10.1016\/j.jacc.2018.08.2182","type":"journal-article","created":{"date-parts":[[2018,11,15]],"date-time":"2018-11-15T08:03:16Z","timestamp":1542268996000},"page":"2485-2506","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":94,"title":["Cardiac Phenotypes in Hereditary\u00a0Muscle\u00a0Disorders"],"prefix":"10.1016","volume":"72","author":[{"given":"Eloisa","family":"Arbustini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Di Toro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Giuliani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Favalli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nupoor","family":"Narula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizia","family":"Grasso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jacc.2018.08.2182_bib1","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.jns.2017.10.051","article-title":"History and current difficulties in classifying inherited myopathies and muscular dystrophies","volume":"384","author":"Mathis","year":"2018","journal-title":"J\u00a0Neurol Sci"},{"key":"10.1016\/j.jacc.2018.08.2182_bib2","first-page":"429","article-title":"Diseases of the skeletal muscle","author":"Malfatti","year":"2017","journal-title":"Handb Clin Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib3","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/j.carpath.2012.12.008","article-title":"Cardiomyopathy in neurological disorders","volume":"22","author":"Finsterer","year":"2013","journal-title":"Cardiovasc Pathol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib4","doi-asserted-by":"crossref","first-page":"1890","DOI":"10.1016\/j.hrthm.2012.06.038","article-title":"Arrhythmias in the muscular dystrophies","volume":"9","author":"Groh","year":"2012","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.jacc.2018.08.2182_bib5","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1146\/annurev.pathol.2.010506.091936","article-title":"Muscle diseases: the muscular dystrophies","volume":"2","author":"McNally","year":"2007","journal-title":"Annu Rev Pathol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib6","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1212\/WNL.0000000000001783","volume":"85","author":"Tawil","year":"2015","journal-title":"Neurology"},{"key":"10.1016\/j.jacc.2018.08.2182_bib7","doi-asserted-by":"crossref","first-page":"e200","DOI":"10.1161\/CIR.0000000000000526","article-title":"Management of cardiac involvement associated with neuromuscular diseases: a scientific statement from the AHA","volume":"136","author":"Feingold","year":"2017","journal-title":"Circulation"},{"key":"10.1016\/j.jacc.2018.08.2182_bib8","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/j.jacc.2014.05.027","article-title":"The MOGE(S) classification of cardiomyopathy for clinicians","volume":"64","author":"Arbustini","year":"2014","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib9","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.tcm.2016.06.005","article-title":"Diagnosis and management of adult hereditary cardioneuromuscular disorders: a model for the multidisciplinary care of complex genetic disorders","volume":"27","author":"Sommerville","year":"2017","journal-title":"Trends Cardiovasc Med"},{"key":"10.1016\/j.jacc.2018.08.2182_bib10","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/S1474-4422(09)70271-6","article-title":"Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management","volume":"9","author":"Bushby","year":"2010","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib11","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1016\/0140-6736(91)92671-N","article-title":"Prevalence and incidence of Becker muscular dystrophy","volume":"337","author":"Bushby","year":"1991","journal-title":"Lancet"},{"key":"10.1016\/j.jacc.2018.08.2182_bib12","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S1474-4422(03)00585-4","article-title":"Dystrophin and mutations: one gene, several proteins, multiple phenotypes","volume":"2","author":"Muntoni","year":"2003","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib13","doi-asserted-by":"crossref","first-page":"1590","DOI":"10.1161\/CIRCULATIONAHA.114.015151","article-title":"Contemporary cardiac issues in Duchenne muscular dystrophy","volume":"131","author":"McNally","year":"2015","journal-title":"Circulation"},{"key":"10.1016\/j.jacc.2018.08.2182_bib14","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.amjcard.2008.08.064","article-title":"Re-examination of the electrocardiogram in boys with Duchenne muscular dystrophy and correlation with its dilated cardiomyopathy","volume":"103","author":"Thrush","year":"2009","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib15","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1016\/j.amjcard.2016.01.031","article-title":"Relation of cardiac dysfunction to rhythm abnormalities in patients with Duchenne or Becker muscular dystrophies","volume":"117","author":"Chiang","year":"2016","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib16","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1001\/jamacardio.2016.4801","article-title":"Myocardial fibrosis progression in Duchenne and Becker muscular dystrophy: a randomized clinical trial","volume":"2","author":"Silva","year":"2017","journal-title":"JAMA Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib17","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/0167-5273(90)90082-G","article-title":"The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy","volume":"26","author":"Nigro","year":"1990","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib18","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1016\/j.ahj.2008.01.018","article-title":"Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the pediatric cardiomyopathy registry","volume":"155","author":"Connuck","year":"2008","journal-title":"Am Heart J"},{"key":"10.1016\/j.jacc.2018.08.2182_bib19","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1016\/j.jacc.2004.09.078","article-title":"Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy","volume":"45","author":"Duboc","year":"2005","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib20","doi-asserted-by":"crossref","first-page":"e43","DOI":"10.1016\/j.ijcard.2012.04.009","article-title":"Left ventricular assist device in Duchenne cardiomyopathy: can we change the natural history of cardiac disease?","volume":"161","author":"Amodeo","year":"2012","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib21","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1186\/s13023-017-0631-3","article-title":"The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review","volume":"12","author":"Ryder","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jacc.2018.08.2182_bib22","doi-asserted-by":"crossref","first-page":"2799","DOI":"10.1161\/CIRCULATIONAHA.104.528281","article-title":"Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy","volume":"112","author":"Jefferies","year":"2005","journal-title":"Circulation"},{"key":"10.1016\/j.jacc.2018.08.2182_bib23","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1016\/S0002-8703(96)90250-1","article-title":"Cardiac dysfunction with Becker muscular dystrophy","volume":"132","author":"Saito","year":"1996","journal-title":"Am Heart J"},{"key":"10.1016\/j.jacc.2018.08.2182_bib24","first-page":"657","article-title":"Evolution of cardiac abnormalities in Becker muscular dystrophy over a 13-year period","volume":"244","author":"Hoogerwaard","year":"1997","journal-title":"J\u00a0Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib25","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1016\/j.jacc.2011.01.072","article-title":"Diagnostic work-up and risk stratification in X-linked dilated cardiomyopathies caused by dystrophin defects","volume":"58","author":"Diegoli","year":"2011","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib26","doi-asserted-by":"crossref","first-page":"e147","DOI":"10.1016\/j.jacc.2013.05.019","article-title":"2013 ACCF\/AHA guideline for the management of heart failure: a report of the American College of Cardiology Foundation\/American Heart Association Task Force on Practice Guidelines","volume":"62","author":"Yancy","year":"2013","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib27","doi-asserted-by":"crossref","first-page":"1854","DOI":"10.1161\/01.CIR.87.6.1854","article-title":"X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus","volume":"87","author":"Towbin","year":"1993","journal-title":"Circulation"},{"key":"10.1016\/j.jacc.2018.08.2182_bib28","doi-asserted-by":"crossref","first-page":"1760","DOI":"10.1016\/S0735-1097(00)00650-1","article-title":"Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy","volume":"35","author":"Arbustini","year":"2000","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib29","doi-asserted-by":"crossref","first-page":"303","DOI":"10.3390\/ph8020303","article-title":"X-linked dilated cardiomyopathy: a cardiospecific phenotype of dystrophinopathy","volume":"8","author":"Nakamura","year":"2015","journal-title":"Pharmaceuticals"},{"key":"10.1016\/j.jacc.2018.08.2182_bib30","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/S1096-7192(02)00153-1","article-title":"Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy","volume":"77","author":"Feng","year":"2002","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jacc.2018.08.2182_bib31","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1136\/hrt.2003.023390","article-title":"Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy","volume":"90","author":"Cohen","year":"2004","journal-title":"Heart"},{"key":"10.1016\/j.jacc.2018.08.2182_bib32","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1093\/hmg\/5.1.73","article-title":"A\u00a0point mutation in the 5\u2032splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy","volume":"5","author":"Milasin","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jacc.2018.08.2182_bib33","doi-asserted-by":"crossref","first-page":"2533","DOI":"10.1016\/j.jacc.2016.02.081","article-title":"Dystrophin-deficient cardiomyopathy","volume":"67","author":"Garry","year":"2016","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib34","doi-asserted-by":"crossref","first-page":"95","DOI":"10.5582\/irdr.2017.01024","article-title":"Heart transplantation in patients with dystrophinopathic cardiomyopathy: review of the literature and personal series","volume":"6","author":"Papa","year":"2017","journal-title":"Intractable Rare Dis Res"},{"key":"10.1016\/j.jacc.2018.08.2182_bib35","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1212\/WNL.0000000000000892","volume":"83","author":"Narayanaswami","year":"2014","journal-title":"Neurology"},{"key":"10.1016\/j.jacc.2018.08.2182_bib36","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1093\/brain\/77.2.169","article-title":"On the classification, natural history and treatment of the myopathies","volume":"77","author":"Walton","year":"1954","journal-title":"Brain"},{"key":"10.1016\/j.jacc.2018.08.2182_bib37","first-page":"1","article-title":"Genetic basis of limb-girdle muscular dystrophies: the 2014 update","volume":"33","author":"Nigro","year":"2014","journal-title":"Acta Myol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib38","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1038\/nrneurol.2016.35","article-title":"Limb-girdle muscular dystrophies\u2014international collaborations for translational research","volume":"12","author":"Thompson","year":"2016","journal-title":"Nat Rev Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib39","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1093\/brain\/awq294","article-title":"A\u00a0founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy","volume":"134","author":"Hicks","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.jacc.2018.08.2182_bib40","doi-asserted-by":"crossref","first-page":"3175","DOI":"10.1093\/brain\/awp236","article-title":"Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population","volume":"132","author":"Norwood","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.jacc.2018.08.2182_bib41","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.1093\/brain\/119.5.1471","article-title":"The clinical spectrum of limb girdle muscular dystrophy A survey in the Netherlands","volume":"119","author":"Van der Kooi","year":"1996","journal-title":"Brain"},{"key":"10.1016\/j.jacc.2018.08.2182_bib42","first-page":"41","article-title":"Sarcoglycanopathies","author":"Kirschner","year":"2011","journal-title":"Handb Clin Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib43","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/j.jacc.2011.08.078","article-title":"Risk factors for malignant ventricular arrhythmias in lamin a\/c mutation carriers: a European cohort study","volume":"59","author":"Van Rijsingen","year":"2012","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib44","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1002\/ana.20283","article-title":"Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I","volume":"56","author":"Poppe","year":"2004","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib45","doi-asserted-by":"crossref","first-page":"2447","DOI":"10.1007\/s00330-010-1799-2","article-title":"Neuromuscular imaging in inherited muscle diseases","volume":"20","author":"Wattjes","year":"2010","journal-title":"Eur Radiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib46","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1136\/jnnp.2009.193938","article-title":"Diagnosis and management of the limb girdle muscular dystrophies","volume":"9","author":"Bushby","year":"2009","journal-title":"Pract Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib47","doi-asserted-by":"crossref","first-page":"2315","DOI":"10.1093\/brain\/awh576","article-title":"Myotilinopathy: refining the clinical and myopathological phenotype","volume":"128","author":"Oliv\u00e9","year":"2005","journal-title":"Brain"},{"key":"10.1016\/j.jacc.2018.08.2182_bib48","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1136\/heartjnl-2017-312338","article-title":"Lamin and the heart","volume":"104","author":"Captur","year":"2018","journal-title":"Heart"},{"key":"10.1016\/j.jacc.2018.08.2182_bib49","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/B978-0-08-045031-5.00010-4","article-title":"Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders","volume":"101","author":"Gazzerro","year":"2011","journal-title":"Handb Clin Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib50","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.ejheart.2005.11.003","article-title":"Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects","volume":"8","author":"Arbustini","year":"2006","journal-title":"Eur J Heart Fail"},{"key":"10.1016\/j.jacc.2018.08.2182_bib51","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.bbrc.2003.11.101","article-title":"Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy","volume":"313","author":"Hayashi","year":"2004","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.jacc.2018.08.2182_bib52","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1016\/j.nmd.2009.08.015","article-title":"Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene","volume":"19","author":"Catteruccia","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jacc.2018.08.2182_bib53","unstructured":"Bonne G, Leturcq F, Ben Yaou R. Emery-Dreifuss muscular dystrophy. In: Adam MP, Ardinger HH, Pagon RA, et\u00a0al. editors. GeneReviews. University of Washington, Seattle; 1993-2018. Available at: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1436. Accessed September 29,\u00a02004."},{"key":"10.1016\/j.jacc.2018.08.2182_bib54","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1038\/ng1294-323","article-title":"Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy","volume":"8","author":"Bione","year":"1994","journal-title":"Nat Genet"},{"key":"10.1016\/j.jacc.2018.08.2182_bib55","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/j.ajhg.2009.07.015","article-title":"Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy","volume":"85","author":"Gueneau","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jacc.2018.08.2182_bib56","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/6799","article-title":"Mutations in the gene encoding lamin A\/C cause autosomal dominant Emery-Dreifuss muscular dystrophy","volume":"21","author":"Bonne","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.jacc.2018.08.2182_bib57","doi-asserted-by":"crossref","first-page":"e5","DOI":"10.1017\/erm.2013.6","article-title":"Nesprins: from the nuclear envelope and beyond","volume":"15","author":"Rajgor","year":"2013","journal-title":"Expert Rev Mol Med"},{"key":"10.1016\/j.jacc.2018.08.2182_bib58","doi-asserted-by":"crossref","first-page":"2816","DOI":"10.1093\/hmg\/ddm238","article-title":"Nesprin-1 and-2 are involved in the pathogenesis of Emery-Dreifuss muscular dystrophy and are critical for nuclear envelope integrity","volume":"16","author":"Zhang","year":"2007","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jacc.2018.08.2182_bib59","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1002\/ana.22338","article-title":"TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy","volume":"69","author":"Liang","year":"2011","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib60","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/j.nmd.2012.11.011","article-title":"Homozygous lamin A\/C familial lipodystrophy R482Q mutation in autosomal recessive Emery-Dreifuss muscular dystrophy","volume":"23","author":"Wiltshire","year":"2013","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jacc.2018.08.2182_bib61","doi-asserted-by":"crossref","first-page":"1693","DOI":"10.1042\/BST20110658","article-title":"The LINC complex and human disease","volume":"39","author":"Meinke","year":"2011","journal-title":"Biochem Soc Trans"},{"key":"10.1016\/j.jacc.2018.08.2182_bib62","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/j.ejmg.2013.03.001","article-title":"Left ventricular hypertrophy caused by a novel nonsense mutation in FHL1","volume":"56","author":"Gossios","year":"2013","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.jacc.2018.08.2182_bib63","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1111\/cge.12760","article-title":"Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1","volume":"90","author":"San Rom\u00e1n","year":"2016","journal-title":"Clin Genet"},{"key":"10.1016\/j.jacc.2018.08.2182_bib64","doi-asserted-by":"crossref","first-page":"1814","DOI":"10.1093\/europace\/euu141","article-title":"Atrial arrhythmias in the young: early onset atrial arrhythmias preceding a diagnosis of a primary muscular dystrophy","volume":"16","author":"Stoyanov","year":"2014","journal-title":"Europace"},{"key":"10.1016\/j.jacc.2018.08.2182_bib65","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1159\/000368222","article-title":"Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c. 449+ 1G> A","volume":"130","author":"Finsterer","year":"2015","journal-title":"Cardiology"},{"key":"10.1016\/j.jacc.2018.08.2182_bib66","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.4022\/jafib.1511","article-title":"A\u00a0novel de novo mutation in Lamin A\/C gene in Emery-Dreifuss muscular dystrophy patient with atrial paralysis","volume":"9","author":"Achmad","year":"2017","journal-title":"J\u00a0Atr Fibrillation"},{"key":"10.1016\/j.jacc.2018.08.2182_bib67","doi-asserted-by":"crossref","first-page":"2793","DOI":"10.1093\/eurheartj\/ehv316","article-title":"2015 ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death","volume":"36","author":"Priori","year":"2015","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jacc.2018.08.2182_bib68","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1038\/nrneurol.2009.26","article-title":"Diagnosis and treatment of Friedreich ataxia: a European perspective","volume":"5","author":"Schulz","year":"2009","journal-title":"Nat Rev Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib69","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","article-title":"Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion","volume":"271","author":"Campuzano","year":"1996","journal-title":"Science"},{"key":"10.1016\/j.jacc.2018.08.2182_bib70","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1080\/14734220600913246","article-title":"Iron and iron-responsive proteins in the cardiomyopathy of Friedreich\u2019s ataxia","volume":"5","author":"Michael","year":"2006","journal-title":"Cerebellum"},{"key":"10.1016\/j.jacc.2018.08.2182_bib71","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1001\/archneur.65.10.1296","article-title":"Friedreich ataxia","volume":"65","author":"Pandolfo","year":"2008","journal-title":"Arch Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib72","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.ppedcard.2011.02.007","article-title":"The heart in Friedreich's ataxia: basic findings and clinical implications","volume":"31","author":"Payne","year":"2011","journal-title":"Prog Pediatr Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib73","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/S1474-4422(14)70321-7","article-title":"Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data","volume":"14","author":"Reetz","year":"2015","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib74","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1016\/j.echo.2011.04.004","article-title":"Early changes in left ventricular long-axis function in Friedreich ataxia: relation with the FXN gene mutation and cardiac structural change","volume":"24","author":"Mottram","year":"2011","journal-title":"J\u00a0Am Soc Echocardiogr"},{"key":"10.1016\/j.jacc.2018.08.2182_bib75","doi-asserted-by":"crossref","first-page":"1626","DOI":"10.1161\/CIRCULATIONAHA.111.059477","article-title":"The heart in Friedreich ataxia: definition of cardiomyopathy, disease severity, and correlation with neurological symptoms","volume":"125","author":"Weidemann","year":"2012","journal-title":"Circulation"},{"key":"10.1016\/j.jacc.2018.08.2182_bib76","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1007\/s00246-008-9305-1","article-title":"The\u00a0longitudinal course of cardiomyopathy in Friedreich\u2019s ataxia during childhood","volume":"30","author":"Kipps","year":"2009","journal-title":"Pediatr Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib77","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1093\/eurheartj\/ehq443","article-title":"Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome","volume":"32","author":"Raman","year":"2010","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jacc.2018.08.2182_bib78","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.ijcard.2015.05.074","article-title":"The cardiomyopathy in Friedreich's ataxia\u2014new biomarker for staging cardiac involvement","volume":"194","author":"Weidemann","year":"2015","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib79","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.ahj.2010.10.038","article-title":"Idebenone in Friedreich ataxia cardiomyopathy\u2014results from a 6-month phase III study (IONIA)","volume":"161","author":"Lagedrost","year":"2011","journal-title":"Am Heart J"},{"key":"10.1016\/j.jacc.2018.08.2182_bib80","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1177\/0883073816636087","article-title":"Clinical experience with deferiprone treatment for Friedreich ataxia","volume":"31","author":"Elincx-Benizri","year":"2016","journal-title":"J\u00a0Child Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib81","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/j.jns.2017.01.027","article-title":"Cardiac transplantation in Friedreich Ataxia: Extended follow-up","volume":"375","author":"McCormick","year":"2017","journal-title":"J\u00a0Neurol Sci"},{"key":"10.1016\/j.jacc.2018.08.2182_bib82","first-page":"147","article-title":"Mitochondrial diseases","author":"Molnar","year":"2017","journal-title":"Handb Clin Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib83","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1002\/ana.24362","article-title":"Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease","volume":"77","author":"Gorman","year":"2015","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib84","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1038\/nrneurol.2013.126","article-title":"The clinical maze of mitochondrial neurology","volume":"9","author":"DiMauro","year":"2013","journal-title":"Nat Rev Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib85","doi-asserted-by":"crossref","first-page":"3023","DOI":"10.1093\/eurheartj\/ehs275","article-title":"Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management","volume":"33","author":"Bates","year":"2012","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jacc.2018.08.2182_bib86","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s10741-015-9524-5","article-title":"MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis","volume":"21","author":"Hsu","year":"2016","journal-title":"Heart Fail Rev"},{"key":"10.1016\/j.jacc.2018.08.2182_bib87","doi-asserted-by":"crossref","first-page":"1448","DOI":"10.1093\/eurheartj\/ehs397","article-title":"Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases","volume":"34","author":"Rapezzi","year":"2012","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jacc.2018.08.2182_bib88","first-page":"385","article-title":"Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management","volume":"40","author":"Meyers","year":"2013","journal-title":"Tex Heart Inst J"},{"key":"10.1016\/j.jacc.2018.08.2182_bib89","series-title":"GeneReviews","first-page":"1993","article-title":"MELAS","author":"DiMauro","year":"2001"},{"key":"10.1016\/j.jacc.2018.08.2182_bib90","series-title":"GeneReviews","article-title":"Mitochondrial disorders overview","author":"Chinnery","year":"1993"},{"key":"10.1016\/j.jacc.2018.08.2182_bib91","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1007\/s10741-010-9175-5","article-title":"Left ventricular noncompaction and its cardiac and neurologic implications","volume":"15","author":"Finsterer","year":"2010","journal-title":"Heart Fail Rev"},{"key":"10.1016\/j.jacc.2018.08.2182_bib92","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.ymgme.2013.07.007","article-title":"Diagnosis of mitochondrial myopathies","volume":"110","author":"Milone","year":"2013","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jacc.2018.08.2182_bib93","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1038\/ejhg.2010.169","article-title":"Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny","volume":"19","author":"Zaragoza","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jacc.2018.08.2182_bib94","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1016\/j.ajhg.2012.04.011","article-title":"Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis","volume":"90","author":"Ghezzi","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jacc.2018.08.2182_bib95","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.ymgme.2017.11.003","article-title":"The genotypic and phenotypic spectrum of MTO1 deficiency","volume":"123","author":"O'Byrne","year":"2018","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jacc.2018.08.2182_bib96","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/mus.22296","article-title":"How common is misdiagnosis in late-onset Pompe disease?","volume":"45","author":"Hobson\u2013Webb","year":"2012","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jacc.2018.08.2182_bib97","first-page":"45","article-title":"Glycogen storage diseases: diagnosis, treatment and outcome","volume":"1","author":"Chen","year":"2016","journal-title":"Transl Sci Rare Dis"},{"key":"10.1016\/j.jacc.2018.08.2182_bib98","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1097\/WCO.0000000000000484","article-title":"Update on new muscle glycogenosis","volume":"30","author":"Lafor\u00eat","year":"2017","journal-title":"Curr Opin Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib99","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1007\/s002469900471","article-title":"Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency","volume":"20","author":"Regalado","year":"1999","journal-title":"Pediatr Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib100","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1038\/gim.2015.9","article-title":"Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data","volume":"17","author":"De Castro","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.jacc.2018.08.2182_bib101","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1212\/WNL.0000000000002758","article-title":"Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness","volume":"87","author":"Lukacs","year":"2016","journal-title":"Neurology"},{"key":"10.1016\/j.jacc.2018.08.2182_bib102","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1186\/s12968-016-0311-9","article-title":"Pattern and prognostic value of cardiac involvement in patients with late-onset Pompe disease: a comprehensive cardiovascular magnetic resonance approach","volume":"18","author":"Boentert","year":"2017","journal-title":"J\u00a0Cardiovasc Magn Reson"},{"key":"10.1016\/j.jacc.2018.08.2182_bib103","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1007\/s10545-015-9913-x","article-title":"Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD)","volume":"39","author":"Montagnese","year":"2016","journal-title":"J\u00a0Inherit Metab Dis"},{"key":"10.1016\/j.jacc.2018.08.2182_bib104","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1161\/CIRCHEARTFAILURE.114.001105","article-title":"Danon disease: clinical features, evaluation, and management","volume":"7","author":"D\u2019souza","year":"2014","journal-title":"Circ Heart Fail"},{"key":"10.1016\/j.jacc.2018.08.2182_bib105","series-title":"GeneReviews","article-title":"Glycogen storage disease type V. 2014","author":"Mart\u00edn","year":"1993"},{"key":"10.1016\/j.jacc.2018.08.2182_bib106","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/j.hlc.2012.12.004","article-title":"Unforeseen cardiac involvement in McArdle's disease","volume":"22","author":"Moustafa","year":"2013","journal-title":"Heart Lung Circ"},{"key":"10.1016\/j.jacc.2018.08.2182_bib107","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/s10545-016-9978-1","article-title":"Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature","volume":"40","author":"Hedberg-Oldfors","year":"2017","journal-title":"J\u00a0Inherit Metab Dis"},{"key":"10.1016\/j.jacc.2018.08.2182_bib108","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.ymgme.2015.08.011","article-title":"Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States","volume":"116","author":"Miller","year":"2015","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jacc.2018.08.2182_bib109","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.ymgme.2016.05.007","article-title":"Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database","volume":"118","author":"Pena","year":"2016","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jacc.2018.08.2182_bib110","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1067\/mpd.2002.128545","article-title":"Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations","volume":"141","author":"Vladutiu","year":"2002","journal-title":"J\u00a0Pediatr"},{"key":"10.1016\/j.jacc.2018.08.2182_bib111","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1007\/s00246-007-9119-6","article-title":"Cardiomyopathy in multiple acyl-CoA dehydrogenase deficiency","volume":"29","author":"Singla","year":"2008","journal-title":"Pediatr Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib112","doi-asserted-by":"crossref","unstructured":"Dabaj I, Carlier RY, G\u00f3mez-Andr\u00e9s D, et al. Clinical and imaging hallmarks of the MYH7- related myopathy with severe axial involvement. Muscle Nerve 2018. Available at: https:\/\/doi.org\/10.1002\/mus.26137. Accessed June 18, 2018.","DOI":"10.1002\/mus.26137"},{"key":"10.1016\/j.jacc.2018.08.2182_bib113","series-title":"Hurst\u2019s the Hearth","first-page":"1482","article-title":"Restrictive heart diseases","author":"Arbustini","year":"2017"},{"key":"10.1016\/j.jacc.2018.08.2182_bib114","series-title":"GeneReviews","article-title":"Myofibrillar myopathy","author":"Adam","year":"1993"},{"key":"10.1016\/j.jacc.2018.08.2182_bib115","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1212\/WNL.0b013e3181b2a4b3","article-title":"Consequences of mutations within the C terminus of the FHL1 gene","volume":"73","author":"Schoser","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.jacc.2018.08.2182_bib116","doi-asserted-by":"crossref","first-page":"e270","DOI":"10.1093\/brain\/awt305","article-title":"Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain","volume":"137","author":"Hedberg","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.jacc.2018.08.2182_bib117","doi-asserted-by":"crossref","first-page":"3021","DOI":"10.1016\/j.jacc.2016.04.024","article-title":"Idiopathic restrictive cardiomyopathy is primarily a genetic disease","volume":"67","author":"Gallego-Delgado","year":"2016","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib118","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1016\/S0735-1097(98)00026-6","article-title":"Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits","volume":"31","author":"Arbustini","year":"1998","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib119","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1034\/j.1399-0004.2001.590406.x","article-title":"Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy","volume":"59","author":"Zhang","year":"2001","journal-title":"Clin Genet"},{"key":"10.1016\/j.jacc.2018.08.2182_bib120","doi-asserted-by":"crossref","first-page":"e53","DOI":"10.1161\/CIRCULATIONAHA.105.502575","article-title":"Giant right atrium in the setting of desmin-related restrictive cardiomyopathy","volume":"113","author":"Hager","year":"2006","journal-title":"Circulation"},{"key":"10.1016\/j.jacc.2018.08.2182_bib121","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/j.ijcard.2006.05.019","article-title":"Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation","volume":"117","author":"Pruszczyk","year":"2007","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib122","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1016\/j.nmd.2009.04.004","article-title":"Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin","volume":"19","author":"Pi\u00f1ol-Ripoll","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jacc.2018.08.2182_bib123","doi-asserted-by":"crossref","first-page":"723","DOI":"10.5603\/KP.2017.0129","article-title":"Restrictive cardiomyopathy due to novel desmin gene mutation","volume":"75","author":"Ojrzy\u0144ska","year":"2017","journal-title":"Kardiol Pol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib124","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1002\/ana.21553","article-title":"Mutation in BAG3 causes severe dominant childhood muscular dystrophy","volume":"65","author":"Selcen","year":"2009","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib125","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1016\/j.nmd.2010.05.004","article-title":"Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation","volume":"20","author":"Odgerel","year":"2010","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jacc.2018.08.2182_bib126","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1016\/j.nmd.2015.01.009","article-title":"BAG3 myofibrillar myopathy presenting with cardiomyopathy","volume":"25","author":"Konersman","year":"2015","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jacc.2018.08.2182_bib127","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.ymgme.2018.01.001","article-title":"Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3","volume":"123","author":"Sch\u00e4nzer","year":"2018","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jacc.2018.08.2182_bib128","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1186\/s13023-014-0121-9","article-title":"Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies","volume":"9","author":"Semmler","year":"2014","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jacc.2018.08.2182_bib129","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1002\/humu.23248","article-title":"The novel \u03b1B-crystallin (CRYAB) mutation p. D109G causes restrictive cardiomyopathy","volume":"38","author":"Brodehl","year":"2017","journal-title":"Hum Mut"},{"key":"10.1016\/j.jacc.2018.08.2182_bib130","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.nmd.2011.07.004","article-title":"A\u00a0novel CRYAB mutation resulting in multisystemic disease","volume":"22","author":"Sacconi","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jacc.2018.08.2182_bib131","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1111\/neup.12328","article-title":"A\u00a0novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy","volume":"37","author":"Zheng","year":"2017","journal-title":"Neuropathology"},{"key":"10.1016\/j.jacc.2018.08.2182_bib132","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.1093\/brain\/awm006","article-title":"Zaspopathy in a large classic late-onset distal myopathy family","volume":"130","author":"Griggs","year":"2007","journal-title":"Brain"},{"key":"10.1016\/j.jacc.2018.08.2182_bib133","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1212\/01.WNL.0000123576.74801.75","article-title":"Mutations in myotilin cause myofibrillar myopathy","volume":"62","author":"Selcen","year":"2004","journal-title":"Neurology"},{"issue":"6","key":"10.1016\/j.jacc.2018.08.2182_bib134","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGENETICS.117.001780","article-title":"Novel mutation in FLNC (filamin C) causes familial restrictive cardiomyopathy","volume":"10","author":"Tucker","year":"2017","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1016\/j.jacc.2018.08.2182_bib135","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1161\/CIRCGENETICS.113.000245","article-title":"Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene","volume":"6","author":"Hartmannova","year":"2013","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1016\/j.jacc.2018.08.2182_bib136","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.nmd.2011.01.001","article-title":"Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features","volume":"21","author":"Cowling","year":"2011","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jacc.2018.08.2182_bib137","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1016\/j.mayocp.2016.06.027","article-title":"Systemic immunoglobulin light chain amyloidosis\u2013associated myopathy: presentation, diagnostic pitfalls, and outcome","author":"Muchtar","year":"2016","journal-title":"Mayo Clin Proc"},{"key":"10.1016\/j.jacc.2018.08.2182_bib138","doi-asserted-by":"crossref","first-page":"134","DOI":"10.3109\/13506129.2016.1158160","article-title":"99mTc-DPD scintigraphy as a novel imaging modality for identification of skeletal muscle amyloid deposition in light-chain amyloidosis","volume":"23","author":"Hutt","year":"2016","journal-title":"Amyloid"},{"key":"10.1016\/j.jacc.2018.08.2182_bib139","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/j.nmd.2015.02.001","article-title":"Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy","volume":"25","author":"Carr","year":"2015","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jacc.2018.08.2182_bib140","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1111\/ene.13448","article-title":"Characterization of isolated amyloid myopathy","volume":"24","author":"Liewluck","year":"2017","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib141","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1007\/s00401-015-1384-5","article-title":"Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken","volume":"129","author":"Benveniste","year":"2015","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib142","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1111\/ene.12191","article-title":"ANO5 muscular dystrophy: clinical, pathological and molecular findings","volume":"20","author":"Liewluck","year":"2013","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib143","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.ijcard.2012.09.070","article-title":"Dilated cardiomyopathy in patients with mutations in anoctamin 5","volume":"168","author":"Wahbi","year":"2013","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib144","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/1532-429X-13-39","article-title":"Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I","volume":"13","author":"Rosales","year":"2011","journal-title":"J\u00a0Cardiovasc Magn Reson"},{"key":"10.1016\/j.jacc.2018.08.2182_bib145","first-page":"2084","article-title":"Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression","volume":"260","author":"Witting","year":"2013","journal-title":"J\u00a0Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib146","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1136\/hrt.2005.082271","article-title":"Isolated ventricular noncompaction of the myocardium in adults","volume":"93","author":"Jenni","year":"2007","journal-title":"Heart"},{"key":"10.1016\/j.jacc.2018.08.2182_bib147","doi-asserted-by":"crossref","first-page":"1446","DOI":"10.1093\/eurheartj\/ehq508","article-title":"Left ventricular noncompaction revisited: a distinct phenotype with genetic heterogeneity?","volume":"32","author":"Oechslin","year":"2011","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jacc.2018.08.2182_bib148","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/j.jacc.2016.05.096","article-title":"Left ventricular noncompaction: a distinct genetic cardiomyopathy?","volume":"68","author":"Arbustini","year":"2016","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib149","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1016\/j.jacc.2014.08.035","article-title":"The relationship of left ventricular trabeculation to ventricular function and structure over a 9.5-year follow-up: the MESA study","volume":"64","author":"Zemrak","year":"2014","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib150","doi-asserted-by":"crossref","first-page":"1900","DOI":"10.1016\/j.ijcard.2012.12.058","article-title":"Prognostic impact of left ventricular noncompaction in patients with Duchenne\/Becker muscular dystrophy\u2014prospective multicenter cohort study","volume":"168","author":"Kimura","year":"2013","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib151","doi-asserted-by":"crossref","first-page":"2726","DOI":"10.1002\/ajmg.a.35609","article-title":"The Barth syndrome registry: distinguishing disease characteristics and growth data from a longitudinal study","volume":"158","author":"Roberts","year":"2012","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jacc.2018.08.2182_bib152","series-title":"GeneReviews","article-title":"Barth syndrome","author":"Ferreira","year":"1993"},{"key":"10.1016\/j.jacc.2018.08.2182_bib153","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1111\/j.1747-0803.2008.00226.x","article-title":"Cardiomyopathy of unknown etiology: Barth syndrome unrecognized","volume":"3","author":"Sweeney","year":"2008","journal-title":"Congenit Heart Dis"},{"key":"10.1016\/j.jacc.2018.08.2182_bib154","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.jpeds.2016.12.070","article-title":"Barth syndrome with late-onset cardiomyopathy: a missed opportunity for diagnosis","volume":"183","author":"Woiewodski","year":"2017","journal-title":"J\u00a0Pediat"},{"key":"10.1016\/j.jacc.2018.08.2182_bib155","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1111\/j.1399-3046.2006.00629.x","article-title":"Successful cardiac transplantation in Barth syndrome\u2014single-centre experience of four patients","volume":"11","author":"Mangat","year":"2007","journal-title":"Pediatr Transplant"},{"key":"10.1016\/j.jacc.2018.08.2182_bib156","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/s00246-015-1260-z","article-title":"Clinical characteristics and outcomes of cardiomyopathy in Barth syndrome: the UK Experience","volume":"37","author":"Kang","year":"2016","journal-title":"Pediatr Cardiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib157","doi-asserted-by":"crossref","first-page":"345","DOI":"10.2147\/JMDH.S54802","article-title":"Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach","volume":"8","author":"Reynolds","year":"2015","journal-title":"J\u00a0Multidiscip Healthc"},{"key":"10.1016\/j.jacc.2018.08.2182_bib158","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1186\/1750-1172-8-70","article-title":"Natural history of Barth syndrome: a national cohort study of 22 patients","volume":"8","author":"Rigaud","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jacc.2018.08.2182_bib159","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1097\/CND.0000000000000144","article-title":"Cardiac abnormalities in type 1 facioscapulohumeral muscular dystrophy","volume":"18","author":"Labombarda","year":"2017","journal-title":"J\u00a0Clin Neuromuscul Dis"},{"key":"10.1016\/j.jacc.2018.08.2182_bib160","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1093\/brain\/awf172","article-title":"Myotonic dystrophy","volume":"125","author":"Hammans","year":"2002","journal-title":"Brain"},{"key":"10.1016\/j.jacc.2018.08.2182_bib161","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1016\/j.neurol.2016.08.003","article-title":"Unravelling the myotonic dystrophy type 1 clinical spectrum: a systematic registry-based study with implications for disease classification","volume":"172","author":"De Antonio","year":"2016","journal-title":"Rev Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib162","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1097\/CRD.0b013e318070d1a7","article-title":"Cardiovascular manifestations of myotonic dystrophy-1","volume":"15","author":"Sovari","year":"2007","journal-title":"Cardiol Rev"},{"key":"10.1016\/j.jacc.2018.08.2182_bib163","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1161\/CIRCEP.108.785865","article-title":"Cardiac myotonic dystrophy mimicking arrhythmogenic right ventricular cardiomyopathy in a young sudden cardiac death victim","volume":"1","author":"Christensen","year":"2008","journal-title":"Circ Arrhythm Electrophysiol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib164","doi-asserted-by":"crossref","first-page":"1658","DOI":"10.1212\/WNL.52.8.1658","article-title":"A\u00a010-year study of mortality in a cohort of patients with myotonic dystrophy","volume":"52","author":"Mathieu","year":"1999","journal-title":"Neurology"},{"key":"10.1016\/j.jacc.2018.08.2182_bib165","first-page":"99","article-title":"DM1 Patients with small CTG expansions are also at risk of severe conduction abnormalities","volume":"2","author":"Denicourt","year":"2015","journal-title":"J\u00a0Neuromuscul Dis"},{"key":"10.1016\/j.jacc.2018.08.2182_bib166","first-page":"21","article-title":"PROMM in Italy: clinical and biomolecular findings","volume":"2","author":"Meola","year":"1998","journal-title":"Acta Myol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib167","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1001\/archneur.1995.00540250029009","article-title":"Proximal myotonic myopathy: clinical features of a multisystem disorder similar to myotonic dystrophy","volume":"52","author":"Ricker","year":"1995","journal-title":"Arch Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib168","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1212\/01.WNL.0000054481.84978.F9","article-title":"Myotonic dystrophy type 2 molecular, diagnostic and clinical spectrum","volume":"60","author":"Day","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.jacc.2018.08.2182_bib169","first-page":"1173","article-title":"Myotonic dystrophy type 2 and related myotonic disorders","volume":"251","author":"Meola","year":"2004","journal-title":"J\u00a0Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib170","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1016\/j.nmd.2009.04.012","article-title":"Left ventricular dysfunction and cardiac arrhythmias are frequent in type 2 myotonic dystrophy: a case control study","volume":"19","author":"Wahbi","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jacc.2018.08.2182_bib171","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1111\/j.1751-7133.2011.00265.x","article-title":"Severe dilated cardiomyopathy in a patient with myotonic dystrophy type 2 and homozygous repeat expansion in ZNF9","volume":"18","author":"Lee","year":"2012","journal-title":"Congest Heart Fail"},{"key":"10.1016\/j.jacc.2018.08.2182_bib172","doi-asserted-by":"crossref","first-page":"2402","DOI":"10.1212\/01.WNL.0000147335.10783.E4","article-title":"Sudden cardiac death in myotonic dystrophy type 2","volume":"63","author":"Schoser","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.jacc.2018.08.2182_bib173","doi-asserted-by":"crossref","first-page":"2688","DOI":"10.1056\/NEJMoa062800","article-title":"Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1","volume":"358","author":"Groh","year":"2008","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.jacc.2018.08.2182_bib174","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1212\/WNL.0b013e31828cf8d0","article-title":"Prevalence study of genetically defined skeletal muscle channelopathies in England","volume":"80","author":"Horga","year":"2013","journal-title":"Neurology"},{"key":"10.1016\/j.jacc.2018.08.2182_bib175","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1093\/brain\/awp294","article-title":"The nondystrophic myotonias: molecular pathogenesis, diagnosis and treatment","volume":"133","author":"Matthews","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.jacc.2018.08.2182_bib176","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1093\/brain\/awh639","article-title":"The primary periodic paralyses: diagnosis, pathogenesis and treatment","volume":"129","author":"Venance","year":"2005","journal-title":"Brain"},{"key":"10.1016\/j.jacc.2018.08.2182_bib177","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.pediatrneurol.2017.02.006","article-title":"Spectrum of nondystrophic skeletal muscle channelopathies in children","volume":"70","author":"Al-Ghamdi","year":"2017","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.jacc.2018.08.2182_bib178","doi-asserted-by":"crossref","DOI":"10.1016\/S0140-6736(18)30477-X","article-title":"Skeletal muscle channelopathy: a new risk for sudden infant death syndrome","author":"Cannon","year":"2018","journal-title":"Lancet"},{"key":"10.1016\/j.jacc.2018.08.2182_bib179","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1002\/mus.24293","article-title":"Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement","volume":"51","author":"Kostera-Pruszczyk","year":"2015","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jacc.2018.08.2182_bib180","doi-asserted-by":"crossref","first-page":"1483","DOI":"10.1016\/S0140-6736(18)30021-7","article-title":"Dysfunction of NaV1. 4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study","volume":"391","author":"M\u00e4nnikk\u00f6","year":"2018","journal-title":"Lancet"},{"key":"10.1016\/j.jacc.2018.08.2182_bib181","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/0002-9149(89)90430-X","article-title":"Two-dimensional echocardiographic aortic root dimensions in normal children and adults","volume":"64","author":"Roman","year":"1989","journal-title":"Am J Cardiol"}],"container-title":["Journal of the American College of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S073510971838584X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S073510971838584X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T13:17:13Z","timestamp":1760015833000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S073510971838584X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11]]},"references-count":181,"journal-issue":{"issue":"20","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["S073510971838584X"],"URL":"https:\/\/doi.org\/10.1016\/j.jacc.2018.08.2182","relation":{},"ISSN":["0735-1097"],"issn-type":[{"value":"0735-1097","type":"print"}],"subject":[],"published":{"date-parts":[[2018,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Cardiac Phenotypes in Hereditary\u00a0Muscle\u00a0Disorders","name":"articletitle","label":"Article Title"},{"value":"Journal of the American College of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jacc.2018.08.2182","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 by the American College of Cardiology Foundation. Published by Elsevier.","name":"copyright","label":"Copyright"}]}}