{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T04:39:47Z","timestamp":1769834387545,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,5,2]],"date-time":"2022-05-02T00:00:00Z","timestamp":1651449600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>MYH7<\/jats:italic>, encoding the myosin heavy chain sarcomeric \u03b2\u2010myosin heavy chain, is a common cause of both hypertrophic and dilated cardiomyopathy. Additionally, families with left ventricular noncompaction cardiomyopathy (LVNC) and congenital heart disease (CHD), typically septal defects or Ebstein anomaly, have been identified to have heterozygous pathogenic variants in <jats:italic>MHY7<\/jats:italic>. One previous case of single ventricle CHD with heart failure due to a <jats:italic>MYH7<\/jats:italic> variant has been identified. Herein, we present a single center's experience of complex CHD due to <jats:italic>MYH7<\/jats:italic> variants. Three probands with a history of CHD, LVNC, and\/or arrhythmias were identified to have <jats:italic>MYH7<\/jats:italic> variants through multigene panel testing or exome sequencing. These three patients collectively had 12 affected family members, four with a history of Ebstein anomaly and seven with a history of LVNC. These findings suggest a wider phenotypic spectrum in MYH7\u2010related CHD than previously understood. Further investigation into the possible role of <jats:italic>MYH7<\/jats:italic> in CHD and mechanism of disease is necessary to fully delineate the phenotypic spectrum of <jats:italic>MYH7<\/jats:italic>\u2010related cardiac disease. MYH7 should be considered for families with multiple individuals with complex CHD in the setting of a family history of LVNC or arrhythmias.<\/jats:p>","DOI":"10.1002\/ajmg.a.62766","type":"journal-article","created":{"date-parts":[[2022,5,2]],"date-time":"2022-05-02T08:40:10Z","timestamp":1651480810000},"page":"2772-2776","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["<scp><i>MYH7<\/i><\/scp> variants cause complex congenital heart disease"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4735-5223","authenticated-orcid":false,"given":"Alyssa","family":"Ritter","sequence":"first","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Cardiology, Department of Pediatrics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania 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