{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:49:29Z","timestamp":1790401769666,"version":"4.1.0"},"reference-count":86,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T00:00:00Z","timestamp":1610668800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Peripartum cardiomyopathy (PPCM) is a condition in which heart failure and systolic dysfunction occur late in pregnancy or within months following delivery. Over the last decade, genetic advances in heritable cardiomyopathy have provided new insights into the role of genetics in PPCM. In this review, we summarise current knowledge of the genetics of PPCM and potential avenues for further research, including the role of molecular chaperone mutations in PPCM. Evidence supporting a genetic basis for PPCM has emanated from observations of familial disease, overlap with familial dilated cardiomyopathy, and sequencing studies of PPCM cohorts. Approximately 20% of PPCM patients screened for cardiomyopathy genes have an identified pathogenic mutation, with TTN truncations most commonly implicated. As a stress-associated condition, PPCM may be modulated by molecular chaperones such as heat shock proteins (Hsps). Recent studies have led to the identification of Hsp mutations in a PPCM model, suggesting that variation in these stress-response genes may contribute to PPCM pathogenesis. Although some Hsp genes have been implicated in dilated cardiomyopathy, their roles in PPCM remain to be determined. Additional areas of future investigation may include the delineation of genotype-phenotype correlations and the screening of newly-identified cardiomyopathy genes for their roles in PPCM. Nevertheless, these findings suggest that the construction of a family history may be advised in the management of PPCM and that genetic testing should be considered. A better understanding of the genetics of PPCM holds the potential to improve treatment, prognosis, and family management.<\/jats:p>","DOI":"10.3390\/genes12010103","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T12:44:05Z","timestamp":1610714645000},"page":"103","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":43,"title":["Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications"],"prefix":"10.3390","volume":"12","author":[{"given":"Timothy F.","family":"Spracklen","sequence":"first","affiliation":[{"name":"Hatter Institute for Cardiovascular Research in Africa &amp; CHI, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town 7935, South Africa"},{"name":"Division of Cardiology, Department of Medicine, Groote Schuur Hospital, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graham","family":"Chakafana","sequence":"additional","affiliation":[{"name":"Hatter Institute for Cardiovascular Research in Africa &amp; CHI, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town 7935, South Africa"},{"name":"Division of Cardiology, Department of Medicine, Groote Schuur Hospital, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0367-1048","authenticated-orcid":false,"given":"Peter J.","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Hatter Institute for Cardiovascular Research in Africa &amp; CHI, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town 7935, South Africa"},{"name":"Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Istituto Auxologico Italiano, IRCCS, 20135 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria-Christina","family":"Kotta","sequence":"additional","affiliation":[{"name":"Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Istituto Auxologico Italiano, IRCCS, 20135 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4217-1487","authenticated-orcid":false,"given":"Gasnat","family":"Shaboodien","sequence":"additional","affiliation":[{"name":"Hatter Institute for Cardiovascular Research in Africa &amp; CHI, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town 7935, South Africa"},{"name":"Division of Cardiology, Department of Medicine, Groote Schuur Hospital, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ntobeko A. B.","family":"Ntusi","sequence":"additional","affiliation":[{"name":"Hatter Institute for Cardiovascular Research in Africa &amp; CHI, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town 7935, South Africa"},{"name":"Division of Cardiology, Department of Medicine, Groote Schuur Hospital, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa"},{"name":"Cape Universities Body Imaging Centre, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8272-0911","authenticated-orcid":false,"given":"Karen","family":"Sliwa","sequence":"additional","affiliation":[{"name":"Hatter Institute for Cardiovascular Research in Africa &amp; CHI, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town 7935, South Africa"},{"name":"Division of Cardiology, Department of Medicine, Groote Schuur Hospital, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,1,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1002\/ejhf.1493","article-title":"Pathophysiology, diagnosis and management of peripartum cardiomyopathy: A position statement from the Heart Failure Association of the European Society of Cardiology Study Group on peripartum cardiomyopathy","volume":"21","author":"Bauersachs","year":"2019","journal-title":"Eur. J. Heart Fail"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"325","DOI":"10.21037\/cdt.2019.05.03","article-title":"Detection and management of arrhythmias in peripartum cardiomyopathy","volume":"10","author":"Hoevelmann","year":"2020","journal-title":"Cardiovasc. Diagn. Ther."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/j.jacc.2015.06.1309","article-title":"Clinical outcomes for peripartum cardiomyopathy in North America: Results of the IPAC study (Investigations of Pregnancy-Associated Cardiomyopathy)","volume":"66","author":"McNamara","year":"2015","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1177\/004947559502500310","article-title":"Peripartum cardiomyopathy: Experiences at King Edward VIII Hospital, Durban, South Africa and a review of the literature","volume":"25","author":"Desai","year":"1995","journal-title":"Trop. Doct."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1712","DOI":"10.1002\/ejhf.882","article-title":"Peripartum cardiomyopathy in Denmark: A retrospective, population-based study of incidence, management and outcome","volume":"19","author":"Johansen","year":"2017","journal-title":"Eur. J. Heart Fail"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"e001056","DOI":"10.1161\/JAHA.114.001056","article-title":"Temporal trends in incidence and outcomes of peripartum cardiomyopathy in the United States: A nationwide population-based study","volume":"3","author":"Kolte","year":"2014","journal-title":"J. Am. Heart Assoc."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1002\/ejhf.780","article-title":"Clinical characteristics of patients from the worldwide registry on peripartum cardiomyopathy (PPCM): EURObservational Research Programme in conjunction with the Heart Failure Association of the European Society of Cardiology Study Group on PPCM","volume":"19","author":"Sliwa","year":"2017","journal-title":"Eur. J. Heart Fail"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1016\/j.recesp.2011.07.009","article-title":"The heart during pregnancy","volume":"64","author":"Hall","year":"2011","journal-title":"Rev. Esp. Cardiol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1016\/j.cell.2006.12.036","article-title":"A cathepsin D-cleaved 16 kDa form of prolactin mediates postpartum cardiomyopathy","volume":"128","author":"Kaminski","year":"2007","journal-title":"Cell"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1001\/archinte.1963.03620290117016","article-title":"Familial occurrence of postpartal heart failure","volume":"111","author":"Pierce","year":"1963","journal-title":"Arch Intern Med"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.ijcard.2008.05.035","article-title":"Can peripartum cardiomyopathy be familial?","volume":"137","author":"Baruteau","year":"2009","journal-title":"Int. J. Cardiol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1007\/s00395-013-0366-9","article-title":"Phenotyping and outcome on contemporary management in a German cohort of patients with peripartum cardiomyopathy","volume":"108","author":"Haghikia","year":"2013","journal-title":"Basic Res. Cardiol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"2176","DOI":"10.1161\/CIRCULATIONAHA.109.931220","article-title":"Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy","volume":"121","author":"Morales","year":"2010","journal-title":"Circulation"},{"key":"ref_14","first-page":"394","article-title":"Frequency and clinical genetics of familial dilated cardiomyopathy in Cape Town: Implications for the evaluation of patients with unexplained cardiomyopathy","volume":"1010","author":"Ntusi","year":"2011","journal-title":"S. Afr. Med. J."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1016\/0002-8703(95)90032-2","article-title":"Familial occurrence of peripartum cardiomyopathy","volume":"129","author":"Pearl","year":"1995","journal-title":"Am. Heart J."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"e00196","DOI":"10.1016\/j.crwh.2020.e00196","article-title":"Did a shared thioredoxin-reductase gene mutation lead to maternal peripartum cardiomyopathy and fatal dilated cardiomyopathy in her son? A case report","volume":"26","author":"Rajapreyar","year":"2020","journal-title":"Case Rep. Womens Health"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"2169","DOI":"10.1161\/CIRCULATIONAHA.109.929646","article-title":"Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy","volume":"121","author":"Jongbloed","year":"2010","journal-title":"Circulation"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1016\/S1053-2498(00)00240-0","article-title":"Cardiomyopathy in a carrier of Duchenne\u2019s muscular dystrophy","volume":"20","author":"Davies","year":"2001","journal-title":"J. Heart Lung Transpl."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1016\/j.ijcard.2015.10.239","article-title":"A de-novo deletion of dystrophin provoking severe \u2019peri-partum cardiomyopathy: The importance of genetic testing in peripartum cardiomyopathy to uncover female carriers","volume":"203","author":"Ahmed","year":"2016","journal-title":"Int. J. Cardiol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/j.hlc.2012.11.015","article-title":"Peripartum cardiomyopathy in a previously asymptomatic carrier of Duchenne muscular dystrophy","volume":"22","author":"Cheng","year":"2013","journal-title":"Heart Lung Circ"},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Gurka, J., Piherova, L., Majer, F., Chaloupka, A., Zakova, D., and Pelak, O. (2020). Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: A LAMP2 flow cytometric study. ESC Heart Fail.","DOI":"10.1002\/ehf2.12823"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"2135","DOI":"10.1242\/jcs.184770","article-title":"Danon disease-dysregulation of autophagy in a multisystem disorder with cardiomyopathy","volume":"129","author":"Rowland","year":"2016","journal-title":"J. Cell Sci."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.yjmcc.2012.12.009","article-title":"Cardiac phenotype of Duchenne Muscular Dystrophy: Insights from cellular studies","volume":"58","author":"Shirokova","year":"2013","journal-title":"J. Mol. Cell Cardiol."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Lim, K.R.Q., Sheri, N., Nguyen, Q., and Yokota, T. (2020). Cardiac Involvement in Dystrophin-Deficient Females: Current Understanding and Implications for the Treatment of Dystrophinopathies. Genes, 11.","DOI":"10.3390\/genes11070765"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1038\/ejhg.2009.34","article-title":"The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy","volume":"17","author":"Moller","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1056\/NEJMoa1110186","article-title":"Truncations of titin causing dilated cardiomyopathy","volume":"366","author":"Herman","year":"2012","journal-title":"N. Engl. J. Med."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1038\/gim.2016.90","article-title":"Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples","volume":"19","author":"Walsh","year":"2017","journal-title":"Genet. Med."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.3389\/fphys.2019.01436","article-title":"The giant protein Titin\u2019s role in cardiomyopathy: Genetic, transcriptional, and post-translational modifications of TTN and their contribution to cardiac disease","volume":"10","author":"Tharp","year":"2019","journal-title":"Front. Physiol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1093\/eurheartj\/ehr105","article-title":"A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy","volume":"32","author":"Villard","year":"2011","journal-title":"Eur. Heart J."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"3189","DOI":"10.1172\/JCI94310","article-title":"Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy","volume":"127","author":"Fang","year":"2017","journal-title":"J. Clin. Investig."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"6319","DOI":"10.1002\/jcp.26482","article-title":"Haplo-insufficiency of Bcl2-associated Athanogene 3 in mice results in progressive left ventricular dysfunction, \u03b2-adrenergic insensitivity and increased apoptosis","volume":"233","author":"Myers","year":"2018","journal-title":"J. Cell Physiol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"2165","DOI":"10.1093\/eurheartj\/ehu050","article-title":"Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy","volume":"35","author":"Posafalvi","year":"2014","journal-title":"Eur. Heart. J."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1056\/NEJMoa1505517","article-title":"Shared genetic predisposition in peripartum and dilated cardiomyopathies","volume":"374","author":"Ware","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1038\/s41436-018-0084-7","article-title":"Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy","volume":"21","author":"Minoche","year":"2019","journal-title":"Genet. Med."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"820","DOI":"10.12659\/AJCR.909601","article-title":"Severe course of peripartum cardiomyopathy and subsequent recovery in a patient with a novel TTN gene-truncating mutation","volume":"19","author":"Kryczka","year":"2018","journal-title":"Am. J. Case Rep."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"461","DOI":"10.2169\/internalmedicine.51.5943","article-title":"Peripartum cardiomyopathy presenting with syncope due to Torsades de pointes: A case of long QT syndrome with a novel KCNH2 mutation","volume":"51","author":"Nishimoto","year":"2012","journal-title":"Intern. Med."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1530\/eje.0.1510771","article-title":"Multiple endocrine neoplasia 2A syndrome presenting as peripartum cardiomyopathy due to catecholamine excess","volume":"151","author":"Kim","year":"2004","journal-title":"Eur. J. Endocrinol."},{"key":"ref_38","first-page":"2003","article-title":"A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation family","volume":"20","author":"Glocklhofer","year":"2018","journal-title":"Europace"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1080\/20961790.2019.1616247","article-title":"Arrhythmogenic cardiomyopathy with left ventricular involvement versus ischemic heart disease: Lessons learned from the family study and the reviewed autopsy of a young male","volume":"4","author":"Molina","year":"2019","journal-title":"Forensic Sci. Res."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1002\/ana.20973","article-title":"Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness","volume":"60","author":"Murakami","year":"2006","journal-title":"Ann. Neurol."},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Robyns, T., Willems, R., Van Cleemput, J., Jhangiani, S., Muzny, D., and Gibbs, R. (2019). Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20. Acta Cardiol., 1\u20136.","DOI":"10.1080\/00015385.2019.1674490"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/s41569-019-0284-0","article-title":"Genetics of dilated cardiomyopathy: Practical implications for heart failure management","volume":"17","author":"Rosenbaum","year":"2020","journal-title":"Nat. Rev. Cardiol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1007\/s11886-018-1030-7","article-title":"Genetics of dilated cardiomyopathy: Clinical implications","volume":"20","author":"Paldino","year":"2018","journal-title":"Curr. Cardiol. Rep."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1161\/CIRCGENETICS.110.959205","article-title":"Genome-wide significance and replication of the chromosome 12p11.22 locus near the PTHLH gene for peripartum cardiomyopathy","volume":"4","author":"Horne","year":"2011","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"e002683","DOI":"10.1161\/CIRCHEARTFAILURE.115.002683","article-title":"GNB3 C825T polymorphism and myocardial recovery in peripartum cardiomyopathy: Results of the multicenter Investigations of Pregnancy-Associated Cardiomyopathy study","volume":"9","author":"Sheppard","year":"2016","journal-title":"Circ. Heart Fail"},{"key":"ref_46","doi-asserted-by":"crossref","unstructured":"Ranek, M.J., Stachowski, M.J., Kirk, J.A., and Willis, M.S. (2018). The role of heat shock proteins and co-chaperones in heart failure. Philos. Trans. R Soc. Lond B Biol. Sci., 373.","DOI":"10.1098\/rstb.2016.0530"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.jacbts.2017.09.009","article-title":"The multifunctional protein BAG3: A novel therapeutic target in cardiovascular disease","volume":"3","author":"Myers","year":"2018","journal-title":"JACC Basic Transl. Sci."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1146\/annurev.bi.55.070186.005443","article-title":"The heat-shock response","volume":"55","author":"Lindquist","year":"1986","journal-title":"Ann Rev Biochem"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1863","DOI":"10.1161\/CIRCRESAHA.116.305372","article-title":"Proteotoxicity and cardiac dysfunction","volume":"116","author":"McLendon","year":"2015","journal-title":"Circ. Res."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1007\/s12192-017-0799-4","article-title":"The protective role of small heat shock proteins in cardiac diseases: Key role in atrial fibrillation","volume":"22","author":"Hu","year":"2017","journal-title":"Cell Stress Chap."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1007\/s12192-020-01095-z","article-title":"Small heat-shock proteins and their role in mechanical stress","volume":"25","author":"Collier","year":"2020","journal-title":"Cell Stress Chaper."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1080\/15548627.2017.1392420","article-title":"Regulation of BECN1-mediated autophagy by HSPB6: Insights from a human HSPB6(S10F) mutant","volume":"14","author":"Liu","year":"2018","journal-title":"Autophagy"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.biochi.2020.04.021","article-title":"Physico-chemical properties of two point mutants of small heat shock protein HspB6 (Hsp20) with abrogated cardioprotection","volume":"174","author":"Shatov","year":"2020","journal-title":"Biochimie"},{"key":"ref_54","doi-asserted-by":"crossref","unstructured":"Liu, G.S., Gardner, G., Adly, G., Jiang, M., Cai, W.F., and Lam, C.K. (2018). A novel human S10F-Hsp20 mutation induces lethal peripartum cardiomyopathy. J. Cell Mol. Med.","DOI":"10.1111\/jcmm.13665"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1093\/cvr\/cvu010","article-title":"Opposing roles of Akt and STAT3 in the protection of the maternal heart from peripartum stress","volume":"101","author":"Bultmann","year":"2014","journal-title":"Cardiovasc. Res."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1172\/JCI39085","article-title":"Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease","volume":"120","author":"Matkovich","year":"2010","journal-title":"J. Clin. Investig."},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Stark, K., Esslinger, U.B., Reinhard, W., Petrov, G., Winkler, T., and Komajda, M. (2010). Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy. PLoS Genet., 6.","DOI":"10.1371\/journal.pgen.1001167"},{"key":"ref_58","doi-asserted-by":"crossref","unstructured":"Esslinger, U., Garnier, S., Korniat, A., Proust, C., Kararigas, G., and Muller-Nurasyid, M. (2017). Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0172995"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1161\/CIRCGENETICS.109.898395","article-title":"Common variants in HSPB7 and FRMD4B associated with advanced heart failure","volume":"3","author":"Cappola","year":"2010","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.ijcard.2015.04.003","article-title":"Involvement of BAG3 and HSPB7 loci in various etiologies of systolic heart failure: Results of a European collaboration assembling more than 2000 patients","volume":"189","author":"Garnier","year":"2015","journal-title":"Int. J. Cardiol."},{"key":"ref_61","first-page":"1188","article-title":"Common variant rs7597774 in ADD2 is associated with dilated cardiomyopathy in Chinese Han population","volume":"8","author":"Chen","year":"2015","journal-title":"Int. J. Clin. Exp. Med."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/2047-783X-18-10","article-title":"Polymorphism of ZBTB17 gene is associated with idiopathic dilated cardiomyopathy: A case control study in a Han Chinese population","volume":"18","author":"Li","year":"2013","journal-title":"Eur. J. Med. Res."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.1248\/bpb.34.1653","article-title":"Molecular mechanisms of \u03b1-crystallinopathy and its therapeutic strategy","volume":"34","author":"Sanbe","year":"2011","journal-title":"Biol. Pharm. Bull."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1002\/humu.23248","article-title":"The novel alphaB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy","volume":"38","author":"Brodehl","year":"2017","journal-title":"Hum. Mutat."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1111\/cge.12169","article-title":"Congenital posterior pole cataract and adult onset dilating cardiomyopathy: Expanding the phenotype of alphaB-crystallinopathies","volume":"85","author":"Vink","year":"2014","journal-title":"Clin. Genet."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/1765","article-title":"A missense mutation in the alphaB-crystallin chaperone gene causes desmin-related myopathy","volume":"20","author":"Vicart","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/j.bbrc.2006.01.154","article-title":"Alpha B-crystallin mutation in dilated cardiomyopathy","volume":"342","author":"Inagaki","year":"2006","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1115","DOI":"10.1016\/j.bbrc.2006.05.203","article-title":"alphaB-crystallin mutation in dilated cardiomyopathies: Low prevalence in a consecutive series of 200 unrelated probands","volume":"346","author":"Pilotto","year":"2006","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Enomoto, H., Mittal, N., Inomata, T., Arimura, T., Izumi, T., and Kimura, A. (2020). Dilated Cardiomyopathy (DCM)-linked Heat shock protein Family D Member 1 (HSPD1) mutations cause upregulation of ROS and autophagy through mitochondrial dysfunction. Cardiovasc. Res.","DOI":"10.1093\/cvr\/cvaa158"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1038\/s41418-019-0374-x","article-title":"Deletion of heat shock protein 60 in adult mouse cardiomyocytes perturbs mitochondrial protein homeostasis and causes heart failure","volume":"27","author":"Fan","year":"2020","journal-title":"Cell Death Differ."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"2733","DOI":"10.1093\/eurheartj\/ehu284","article-title":"2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC)","volume":"35","author":"Elliott","year":"2014","journal-title":"Eur. Heart J."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"e579","DOI":"10.1161\/CIR.0000000000000455","article-title":"Current diagnostic and treatment strategies for specific dilated cardiomyopathies: A scientific statement from the American Heart Association","volume":"134","author":"Bozkurt","year":"2016","journal-title":"Circulation"},{"key":"ref_73","first-page":"e783","article-title":"2011 ACCF\/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: A report of the American College of Cardiology Foundation\/American Heart Association Task Force on Practice Guidelines","volume":"124","author":"Gersh","year":"2011","journal-title":"Circulation"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"1850","DOI":"10.1093\/eurheartj\/ehv727","article-title":"Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: A position statement of the ESC working group on myocardial and pericardial diseases","volume":"37","author":"Pinto","year":"2016","journal-title":"Eur. Heart J."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"e373","DOI":"10.1016\/j.hrthm.2019.09.019","article-title":"2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy: Executive summary","volume":"16","author":"Towbin","year":"2019","journal-title":"Heart Rhythm."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"1560","DOI":"10.1038\/s41588-019-0528-2","article-title":"PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels","volume":"51","author":"Martin","year":"2019","journal-title":"Nat. Genet."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/j.ejmg.2017.07.016","article-title":"Reporting practices for variants of uncertain significance from next generation sequencing technologies","volume":"60","author":"Vears","year":"2017","journal-title":"Eur. J. Med. Genet."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"2815","DOI":"10.1038\/s41436-019-0582-2","article-title":"A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy","volume":"21","author":"Catchpool","year":"2019","journal-title":"Genet. Med."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1136\/heartjnl-2011-300368","article-title":"A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy","volume":"98","author":"Ingles","year":"2012","journal-title":"Heart"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1093\/cvr\/cvu014","article-title":"Pregnancy, cardiomyopathies, and genetics","volume":"101","author":"Pieper","year":"2014","journal-title":"Cardiovasc. Res."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"1543","DOI":"10.1136\/heartjnl-2018-313476","article-title":"Cardiomyopathy and pregnancy","volume":"105","author":"Schaufelberger","year":"2019","journal-title":"Heart"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"3737","DOI":"10.1093\/eurheartj\/ehaa455","article-title":"Clinical presentation, management, and 6-month outcomes in women with peripartum cardiomyopathy: An ESC EORP registry","volume":"41","author":"Sliwa","year":"2020","journal-title":"Eur Heart J"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1161\/CIRCRESAHA.116.309396","article-title":"Dilated cardiomyopathy: Genetic determinants and mechanisms","volume":"121","author":"McNally","year":"2017","journal-title":"Circ. Res."},{"key":"ref_84","first-page":"235","article-title":"Incidence, clinical characteristics, and risk factors of peripartum cardiomyopathy in Nigeria: Results from the PEACE Registry","volume":"7","author":"Karaye","year":"2020","journal-title":"ESC Heart Fail"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/ehf2.12553","article-title":"Outcome in German and South African peripartum cardiomyopathy cohorts associates with medical therapy and fibrosis markers","volume":"7","author":"Azibani","year":"2020","journal-title":"ESC Heart Fail"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"262","DOI":"10.21037\/cdt.2019.10.03","article-title":"Genetics of inherited cardiomyopathies in Africa","volume":"10","author":"Shaboodien","year":"2020","journal-title":"Cardiovasc. Diagn. Ther."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/1\/103\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T05:11:35Z","timestamp":1760159495000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/1\/103"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,15]]},"references-count":86,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021,1]]}},"alternative-id":["genes12010103"],"URL":"https:\/\/doi.org\/10.3390\/genes12010103","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,15]]}}}