{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T18:29:49Z","timestamp":1781029789926,"version":"3.54.1"},"reference-count":51,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T00:00:00Z","timestamp":1665446400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T00:00:00Z","timestamp":1665446400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Left ventricular non-compaction cardiomyopathy (LVNC) is one of the most common inherited cardiovascular diseases. The genetic backgrounds of most LVNC patients are not fully understood. We collected clinical data, family histories, and blood samples and performed genetic analysis using next-generation sequencing (NGS) from a Chinese family of 15 subjects. Clinically LVNC affected subjects showed marked cardiac phenotype heterogeneity. We found that these subjects with LVNC carried a missense heterozygous genetic mutation c.905G&gt;A\u00a0(p.R302Q) in \u03b32 subunit of AMP-activated protein kinase (PRKAG2) gene through NGS. Individuals without this mutation showed no symptoms or cardiac structural abnormalities related to LVNC. One subject was the victim of sudden cardiac death. To sum up, PRKAG2 mutation c.905G&gt;A (p.R302Q) caused familial LVNC. Our results described a potentially pathogenic mutation associated with LVNC, which may further extend the spectrum of LVNC phenotypes related to PRKAG2 gene mutations.<\/jats:p>","DOI":"10.1186\/s12920-022-01361-2","type":"journal-article","created":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T08:40:55Z","timestamp":1665477655000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation"],"prefix":"10.1186","volume":"15","author":[{"given":"Jing","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiu","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qun","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunfei","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aiqun","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingzhong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,10,11]]},"reference":[{"issue":"12","key":"1361_CR1","doi-asserted-by":"publisher","first-page":"1446","DOI":"10.1093\/eurheartj\/ehq508","volume":"32","author":"E Oechslin","year":"2011","unstructured":"Oechslin E, Jenni R. Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity? Eur Heart J. 2011;32(12):1446\u201356.","journal-title":"Eur Heart J"},{"issue":"4","key":"1361_CR2","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1002\/(SICI)1097-0185(20000401)258:4<319::AID-AR1>3.0.CO;2-O","volume":"258","author":"D Sedmera","year":"2000","unstructured":"Sedmera D, Pexieder T, Vuillemin M, Thompson RP, Anderson RH. Developmental patterning of the myocardium. Anat Rec. 2000;258(4):319\u201337.","journal-title":"Anat Rec"},{"issue":"4","key":"1361_CR3","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1016\/j.hfc.2010.06.005","volume":"6","author":"JA Towbin","year":"2010","unstructured":"Towbin JA. Left ventricular noncompaction: a new form of heart failure. Heart Fail Clin. 2010;6(4):453\u201369. viii.","journal-title":"Heart Fail Clin"},{"issue":"6","key":"1361_CR4","doi-asserted-by":"publisher","first-page":"821","DOI":"10.1016\/j.amjcard.2006.04.021","volume":"98","author":"E Biagini","year":"2006","unstructured":"Biagini E, Ragni L, Ferlito M, Pasquale F, Lofiego C, Leone O, Rocchi G, Perugini E, Zagnoni S, Branzi A, et al. Different types of cardiomyopathy associated with isolated ventricular noncompaction. Am J Cardiol. 2006;98(6):821\u20134.","journal-title":"Am J Cardiol"},{"issue":"9995","key":"1361_CR5","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1016\/S0140-6736(14)61282-4","volume":"386","author":"JA Towbin","year":"2015","unstructured":"Towbin JA, Lorts A, Jefferies JL. Left ventricular non-compaction cardiomyopathy. Lancet. 2015;386(9995):813\u201325.","journal-title":"Lancet"},{"issue":"3","key":"1361_CR6","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1097\/HCO.0b013e3282fdc939","volume":"23","author":"S Sen-Chowdhry","year":"2008","unstructured":"Sen-Chowdhry S, McKenna WJ. Left ventricular noncompaction and cardiomyopathy: cause, contributor, or epiphenomenon? Curr Opin Cardiol. 2008;23(3):171\u20135.","journal-title":"Curr Opin Cardiol"},{"issue":"6","key":"1361_CR7","doi-asserted-by":"publisher","first-page":"922","DOI":"10.1016\/j.jacc.2004.11.053","volume":"45","author":"RT Murphy","year":"2005","unstructured":"Murphy RT, Mogensen J, McGarry K, Bahl A, Evans A, Osman E, Syrris P, Gorman G, Farrell M, Holton JL, et al. Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history. J Am Coll Cardiol. 2005;45(6):922\u201330.","journal-title":"J Am Coll Cardiol"},{"issue":"24","key":"1361_CR8","doi-asserted-by":"publisher","first-page":"1823","DOI":"10.1056\/NEJM200106143442403","volume":"344","author":"MH Gollob","year":"2001","unstructured":"Gollob MH, Green MS, Tang AS, Gollob T, Karibe A, Ali Hassan AS, Ahmad F, Lozado R, Shah G, Fananapazir L, et al. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med. 2001;344(24):1823\u201331.","journal-title":"N Engl J Med"},{"issue":"3","key":"1361_CR9","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1016\/j.nmd.2005.12.004","volume":"16","author":"P Lafor\u00eat","year":"2006","unstructured":"Lafor\u00eat P, Richard P, Said MA, Romero NB, Lacene E, Leroy JP, Baussan C, Hogrel JY, Lavergne T, Wahbi K, et al. A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis. Neuromuscul Disord. 2006;16(3):178\u201382.","journal-title":"Neuromuscul Disord"},{"issue":"23","key":"1361_CR10","doi-asserted-by":"publisher","first-page":"e588","DOI":"10.1161\/CIRCULATIONAHA.108.829564","volume":"119","author":"A Kelley-Hedgepeth","year":"2009","unstructured":"Kelley-Hedgepeth A, Towbin JA, Maron MS. Images in cardiovascular medicine. Overlapping phenotypes: left ventricular noncompaction and hypertrophic cardiomyopathy. Circulation. 2009;119(23):e588\u20139.","journal-title":"Circulation"},{"issue":"4","key":"1361_CR11","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1161\/CIRCEP.108.782862","volume":"1","author":"HL Tan","year":"2008","unstructured":"Tan HL, van der Wal AC, Campian ME, Kruyswijk HH, ten Hove Jansen B, van Doorn DJ, Oskam HJ, Becker AE, Wilde AA. Nodoventricular accessory pathways in PRKAG2-dependent familial preexcitation syndrome reveal a disorder in cardiac development. Circ Arrhythm Electrophysiol. 2008;1(4):276\u201381.","journal-title":"Circ Arrhythm Electrophysiol"},{"issue":"3","key":"1361_CR12","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1111\/j.1540-8167.2009.01578.x","volume":"21","author":"M Govindan","year":"2010","unstructured":"Govindan M, Ward D, Behr E. A rare connection: fasciculoventricular pathway in PRKAG2 disease. J Cardiovasc Electrophysiol. 2010;21(3):329\u201332.","journal-title":"J Cardiovasc Electrophysiol"},{"issue":"1","key":"1361_CR13","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1016\/j.hrthm.2010.09.081","volume":"8","author":"EB Sternick","year":"2011","unstructured":"Sternick EB, Oliva A, Gerken LM, Magalh\u00e3es L, Scarpelli R, Correia FS, Rego S, Santana O, Brugada R, Wellens HJ. Clinical, electrocardiographic, and electrophysiologic characteristics of patients with a fasciculoventricular pathway: the role of PRKAG2 mutation. Heart Rhythm. 2011;8(1):58\u201364.","journal-title":"Heart Rhythm"},{"issue":"9","key":"1361_CR14","doi-asserted-by":"publisher","first-page":"e17","DOI":"10.1016\/j.jacc.2013.02.099","volume":"62","author":"E Fabris","year":"2013","unstructured":"Fabris E, Brun F, Porto AG, Losurdo P, Vitali Serdoz L, Zecchin M, Severini GM, Mestroni L, Di Chiara A, Sinagra G. Cardiac hypertrophy, accessory pathway, and conduction system disease in an adolescent: the PRKAG2 cardiac syndrome. J Am Coll Cardiol. 2013;62(9):e17.","journal-title":"J Am Coll Cardiol"},{"issue":"2","key":"1361_CR15","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1111\/j.1432-1033.1997.00259.x","volume":"246","author":"DG Hardie","year":"1997","unstructured":"Hardie DG, Carling D. The AMP-activated protein kinase\u2013fuel gauge of the mammalian cell? Eur J Biochem. 1997;246(2):259\u201373.","journal-title":"Eur J Biochem"},{"issue":"1","key":"1361_CR16","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1016\/j.bbrc.2007.01.141","volume":"355","author":"DD Habets","year":"2007","unstructured":"Habets DD, Coumans WA, Voshol PJ, den Boer MA, Febbraio M, Bonen A, Glatz JF, Luiken JJ. AMPK-mediated increase in myocardial long-chain fatty acid uptake critically depends on sarcolemmal CD36. Biochem Biophys Res Commun. 2007;355(1):204\u201310.","journal-title":"Biochem Biophys Res Commun"},{"issue":"29","key":"1361_CR17","doi-asserted-by":"publisher","first-page":"17513","DOI":"10.1074\/jbc.270.29.17513","volume":"270","author":"N Kudo","year":"1995","unstructured":"Kudo N, Barr AJ, Barr RL, Desai S, Lopaschuk GD. High rates of fatty acid oxidation during reperfusion of ischemic hearts are associated with a decrease in malonyl-CoA levels due to an increase in 5\u2019-AMP-activated protein kinase inhibition of acetyl-CoA carboxylase. J Biol Chem. 1995;270(29):17513\u201320.","journal-title":"J Biol Chem"},{"issue":"2","key":"1361_CR18","first-page":"H643","volume":"277","author":"RR Russell","year":"1999","unstructured":"Russell RR 3rd, Bergeron R, Shulman GI, Young LH. Translocation of myocardial GLUT-4 and increased glucose uptake through activation of AMPK by AICAR. Am J Physiol. 1999;277(2):H643\u20139.","journal-title":"Am J Physiol"},{"issue":"20","key":"1361_CR19","doi-asserted-by":"publisher","first-page":"1247","DOI":"10.1016\/S0960-9822(00)00742-9","volume":"10","author":"AS Marsin","year":"2000","unstructured":"Marsin AS, Bertrand L, Rider MH, Deprez J, Beauloye C, Vincent MF, Van den Berghe G, Carling D, Hue L. Phosphorylation and activation of heart PFK-2 by AMPK has a role in the stimulation of glycolysis during ischaemia. Curr Biol. 2000;10(20):1247\u201355.","journal-title":"Curr Biol"},{"issue":"1\u20132","key":"1361_CR20","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1016\/0014-5793(96)00129-9","volume":"382","author":"ME Young","year":"1996","unstructured":"Young ME, Radda GK, Leighton B. Activation of glycogen phosphorylase and glycogenolysis in rat skeletal muscle by AICAR\u2013an activator of AMP-activated protein kinase. FEBS Lett. 1996;382(1\u20132):43\u20137.","journal-title":"FEBS Lett"},{"issue":"2","key":"1361_CR21","doi-asserted-by":"publisher","first-page":"284","DOI":"10.2337\/diabetes.51.2.284","volume":"51","author":"JF Wojtaszewski","year":"2002","unstructured":"Wojtaszewski JF, J\u00f8rgensen SB, Hellsten Y, Hardie DG, Richter EA. Glycogen-dependent effects of 5-aminoimidazole-4-carboxamide (AICA)-riboside on AMP-activated protein kinase and glycogen synthase activities in rat skeletal muscle. Diabetes. 2002;51(2):284\u201392.","journal-title":"Diabetes"},{"issue":"5","key":"1361_CR22","doi-asserted-by":"publisher","first-page":"1990","DOI":"10.1152\/jappl.1999.87.5.1990","volume":"87","author":"BF Holmes","year":"1999","unstructured":"Holmes BF, Kurth-Kraczek EJ, Winder WW. Chronic activation of 5\u2019-AMP-activated protein kinase increases GLUT-4, hexokinase, and glycogen in muscle. J Appl Physiol (1985). 1999;87(5):1990\u20135.","journal-title":"J Appl Physiol (1985)"},{"issue":"5","key":"1361_CR23","doi-asserted-by":"publisher","first-page":"e64603","DOI":"10.1371\/journal.pone.0064603","volume":"8","author":"Y Liu","year":"2013","unstructured":"Liu Y, Bai R, Wang L, Zhang C, Zhao R, Wan D, Chen X, Caceres G, Barr D, Barajas-Martinez H, et al. Identification of a novel de novo mutation associated with PRKAG2 cardiac syndrome and early onset of heart failure. PLoS ONE. 2013;8(5):e64603.","journal-title":"PLoS ONE"},{"issue":"3","key":"1361_CR24","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1172\/JCI0214571","volume":"109","author":"M Arad","year":"2002","unstructured":"Arad M, Benson DW, Perez-Atayde AR, McKenna WJ, Sparks EA, Kanter RJ, McGarry K, Seidman JG, Seidman CE. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest. 2002;109(3):357\u201362.","journal-title":"J Clin Invest"},{"issue":"1","key":"1361_CR25","first-page":"539","volume":"18","author":"MD Cerqueira","year":"2002","unstructured":"Cerqueira MD, Weissman NJ, Dilsizian V, Jacobs AK, Kaul S, Laskey WK, Pennell DJ, Rumberger JA, Ryan T, Verani MS. Standardized myocardial segmentation and nomenclature for tomographic imaging of the heart. A statement for healthcare professionals from the Cardiac Imaging Committee of the Council on Clinical Cardiology of the American Heart Association. Int J Cardiovasc Imaging. 2002;18(1):539\u201342.","journal-title":"Int J Cardiovasc Imaging"},{"issue":"1","key":"1361_CR26","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1016\/j.jacc.2005.03.045","volume":"46","author":"SE Petersen","year":"2005","unstructured":"Petersen SE, Selvanayagam JB, Wiesmann F, Robson MD, Francis JM, Anderson RH, Watkins H, Neubauer S. Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol. 2005;46(1):101\u20135.","journal-title":"J Am Coll Cardiol"},{"key":"1361_CR27","first-page":"273","volume":"13","author":"G RT","year":"1926","unstructured":"RT G. An unusual anomaly of the coronary vessels in the malformed heart of a child. Heart. 1926;13:273\u201383.","journal-title":"Heart"},{"issue":"2","key":"1361_CR28","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1161\/01.CIR.82.2.507","volume":"82","author":"TK Chin","year":"1990","unstructured":"Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation. 1990;82(2):507\u201313.","journal-title":"Circulation"},{"issue":"7","key":"1361_CR29","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1007\/s00392-007-0528-6","volume":"96","author":"R Engberding","year":"2007","unstructured":"Engberding R, Yelbuz TM, Breithardt G. Isolated noncompaction of the left ventricular myocardium -- a review of the literature two decades after the initial case description. Clin Res Cardiol. 2007;96(7):481\u20138.","journal-title":"Clin Res Cardiol"},{"issue":"21","key":"1361_CR30","doi-asserted-by":"publisher","first-page":"2672","DOI":"10.1161\/01.CIR.0000100664.10777.B8","volume":"108","author":"RH Pignatelli","year":"2003","unstructured":"Pignatelli RH, McMahon CJ, Dreyer WJ, Denfield SW, Price J, Belmont JW, Craigen WJ, Wu J, El Said H, Bezold LI, et al. Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy. Circulation. 2003;108(21):2672\u20138.","journal-title":"Circulation"},{"issue":"5","key":"1361_CR31","doi-asserted-by":"publisher","first-page":"626","DOI":"10.1007\/s00246-009-9406-5","volume":"30","author":"H Chen","year":"2009","unstructured":"Chen H, Zhang W, Li D, Cordes TM, Mark Payne R, Shou W. Analysis of ventricular hypertrabeculation and noncompaction using genetically engineered mouse models. Pediatr Cardiol. 2009;30(5):626\u201334.","journal-title":"Pediatr Cardiol"},{"issue":"3","key":"1361_CR32","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1016\/j.hfc.2008.02.007","volume":"4","author":"D Sedmera","year":"2008","unstructured":"Sedmera D, McQuinn T. Embryogenesis of the heart muscle. Heart Fail Clin. 2008;4(3):235\u201345.","journal-title":"Heart Fail Clin"},{"issue":"6","key":"1361_CR33","first-page":"312","volume":"99","author":"J Dusek","year":"1975","unstructured":"Dusek J, Ost\u00e1dal B, Duskova M. Postnatal persistence of spongy myocardium with embryonic blood supply. Arch Pathol. 1975;99(6):312\u20137.","journal-title":"Arch Pathol"},{"issue":"2","key":"1361_CR34","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1093\/eurheartj\/ehm342","volume":"29","author":"P Elliott","year":"2008","unstructured":"Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, K\u00fchl U, Maisch B, McKenna WJ, et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2008;29(2):270\u20136.","journal-title":"Eur Heart J"},{"issue":"10","key":"1361_CR35","doi-asserted-by":"publisher","first-page":"620","DOI":"10.1016\/j.prp.2012.06.007","volume":"208","author":"B Goeppert","year":"2012","unstructured":"Goeppert B, Lindner M, Vogel MN, Warth A, Stenzinger A, Renner M, Schnabel P, Schirmacher P, Autschbach F, Weichert W. Noncompaction myocardium in association with type Ib glycogen storage disease. Pathol Res Pract. 2012;208(10):620\u20132.","journal-title":"Pathol Res Pract"},{"key":"1361_CR36","doi-asserted-by":"crossref","unstructured":"Azevedo O, Gaspar P, C SM, Cunha D, Medeiros R, Louren\u00e7o A: Left ventricular noncompaction in a patient with fabry disease: overdiagnosis, morphological manifestation of fabry disease or two unrelated rare conditions in the same patient? Cardiology 2011, 119(3):155\u2013159.","DOI":"10.1159\/000330924"},{"issue":"3","key":"1361_CR37","doi-asserted-by":"publisher","first-page":"ytz132","DOI":"10.1093\/ehjcr\/ytz132","volume":"3","author":"BA Mulder","year":"2019","unstructured":"Mulder BA, Hoedemaekers YM, van den Berg MP, van Loon RLE, Wind AM, Jongbloed JDH, Wiesfeld ACP. Three female patients with Danon disease presenting with predominant cardiac phenotype: a case series. Eur Heart J Case Rep. 2019;3(3):ytz132.","journal-title":"Eur Heart J Case Rep"},{"issue":"7","key":"1361_CR38","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1016\/j.jacc.2017.12.019","volume":"71","author":"JI van Waning","year":"2018","unstructured":"van Waning JI, Caliskan K, Hoedemaekers YM, van Spaendonck-Zwarts KY, Baas AF, Boekholdt SM, van Melle JP, Teske AJ, Asselbergs FW, Backx A, et al. Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy. J Am Coll Cardiol. 2018;71(7):711\u201322.","journal-title":"J Am Coll Cardiol"},{"issue":"4","key":"1361_CR39","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1161\/CIRCIMAGING.112.972760","volume":"5","author":"MS Maron","year":"2012","unstructured":"Maron MS, Rowin EJ, Lin D, Appelbaum E, Chan RH, Gibson CM, Lesser JR, Lindberg J, Haas TS, Udelson JE, et al. Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy. Circ Cardiovasc Imaging. 2012;5(4):441\u20137.","journal-title":"Circ Cardiovasc Imaging"},{"issue":"6","key":"1361_CR40","doi-asserted-by":"publisher","first-page":"666","DOI":"10.1136\/heart.86.6.666","volume":"86","author":"R Jenni","year":"2001","unstructured":"Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufmann PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart. 2001;86(6):666\u201371.","journal-title":"Heart"},{"issue":"1","key":"1361_CR41","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1016\/S0894-7317(03)00514-5","volume":"17","author":"C St\u00f6llberger","year":"2004","unstructured":"St\u00f6llberger C, Finsterer J. Left ventricular hypertrabeculation\/noncompaction. J Am Soc Echocardiogr. 2004;17(1):91\u2013100.","journal-title":"J Am Soc Echocardiogr"},{"issue":"46","key":"1361_CR42","doi-asserted-by":"publisher","first-page":"3449","DOI":"10.1093\/eurheartj\/ehx545","volume":"38","author":"F Sedaghat-Hamedani","year":"2017","unstructured":"Sedaghat-Hamedani F, Haas J, Zhu F, Geier C, Kayvanpour E, Liss M, Lai A, Frese K, Pribe-Wolferts R, Amr A, et al. Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy. Eur Heart J. 2017;38(46):3449\u201360.","journal-title":"Eur Heart J"},{"issue":"22","key":"1361_CR43","doi-asserted-by":"publisher","first-page":"2202","DOI":"10.1161\/CIRCULATIONAHA.113.002511","volume":"127","author":"ST Brescia","year":"2013","unstructured":"Brescia ST, Rossano JW, Pignatelli R, Jefferies JL, Price JF, Decker JA, Denfield SW, Dreyer WJ, Smith O, Towbin JA, et al. Mortality and sudden death in pediatric left ventricular noncompaction in a tertiary referral center. Circulation. 2013;127(22):2202\u20138.","journal-title":"Circulation"},{"issue":"3","key":"1361_CR44","first-page":"170","volume":"3","author":"K Shemisa","year":"2013","unstructured":"Shemisa K, Li J, Tam M, Barcena J. Left ventricular noncompaction cardiomyopathy. Cardiovasc Diagn Ther. 2013;3(3):170\u20135.","journal-title":"Cardiovasc Diagn Ther"},{"issue":"1\u20132","key":"1361_CR45","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1159\/000064677","volume":"98","author":"A Rigopoulos","year":"2002","unstructured":"Rigopoulos A, Rizos IK, Aggeli C, Kloufetos P, Papacharalampous X, Stefanadis C, Toutouzas P. Isolated left ventricular noncompaction: an unclassified cardiomyopathy with severe prognosis in adults. Cardiology. 2002;98(1\u20132):25\u201332.","journal-title":"Cardiology"},{"issue":"1","key":"1361_CR46","doi-asserted-by":"publisher","first-page":"e003121","DOI":"10.1161\/CIRCEP.115.003121","volume":"9","author":"AG Porto","year":"2016","unstructured":"Porto AG, Brun F, Severini GM, Losurdo P, Fabris E, Taylor MRG, Mestroni L, Sinagra G. Clinical Spectrum of PRKAG2 Syndrome. Circ Arrhythm Electrophysiol. 2016;9(1):e003121.","journal-title":"Circ Arrhythm Electrophysiol"},{"issue":"11","key":"1361_CR47","doi-asserted-by":"publisher","first-page":"1198","DOI":"10.1111\/j.1540-8159.2005.09498.x","volume":"28","author":"A Celiker","year":"2005","unstructured":"Celiker A, Ozkutlu S, Dilber E, Karag\u00f6z T. Rhythm abnormalities in children with isolated ventricular noncompaction. Pacing Clin Electrophysiol. 2005;28(11):1198\u2013202.","journal-title":"Pacing Clin Electrophysiol"},{"issue":"1","key":"1361_CR48","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1159\/000006880","volume":"91","author":"K Kurosaki","year":"1999","unstructured":"Kurosaki K, Ikeda U, Hojo Y, Fujikawa H, Katsuki T, Shimada K. Familial isolated noncompaction of the left ventricular myocardium. Cardiology. 1999;91(1):69\u201372.","journal-title":"Cardiology"},{"issue":"9","key":"1361_CR49","doi-asserted-by":"publisher","first-page":"1256","DOI":"10.1161\/01.CIR.103.9.1256","volume":"103","author":"F Ichida","year":"2001","unstructured":"Ichida F, Tsubata S, Bowles KR, Haneda N, Uese K, Miyawaki T, Dreyer WJ, Messina J, Li H, Bowles NE, et al. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation. 2001;103(9):1256\u201363.","journal-title":"Circulation"},{"issue":"12","key":"1361_CR50","doi-asserted-by":"publisher","first-page":"910","DOI":"10.1053\/euhj.1998.1398","volume":"20","author":"G Junga","year":"1999","unstructured":"Junga G, Kneifel S, Von Smekal A, Steinert H, Bauersfeld U. Myocardial ischaemia in children with isolated ventricular non-compaction. Eur Heart J. 1999;20(12):910\u20136.","journal-title":"Eur Heart J"},{"issue":"3","key":"1361_CR51","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1007\/BF02505211","volume":"17","author":"A Robida","year":"1996","unstructured":"Robida A, Hajar HA. Ventricular conduction defect in isolated noncompaction of the ventricular myocardium. Pediatr Cardiol. 1996;17(3):189\u201391.","journal-title":"Pediatr Cardiol"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-022-01361-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12920-022-01361-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-022-01361-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T21:00:27Z","timestamp":1665522027000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-022-01361-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,11]]},"references-count":51,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["1361"],"URL":"https:\/\/doi.org\/10.1186\/s12920-022-01361-2","relation":{},"ISSN":["1755-8794"],"issn-type":[{"value":"1755-8794","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,11]]},"assertion":[{"value":"5 March 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 September 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 October 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by the Ethics Committee of the First Affiliated Hospital of Xi\u2019an Jiaotong University, and all methods were carried out in accordance with its guidelines and regulations. Written informed consent was obtained from all subjects.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication of medical data and genetic data was obtained from all family members.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to publish"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"214"}}