Article
MYH7 variants cause complex congenital heart disease.
American journal of medical genetics. Part A - 1 Sept 2022
Ritter Alyssa, Leonard Jacqueline, Gray Christopher, Izumi Kosuke, Levinson Katharine, Nair Divya R, O'Connor Matthew, Rossano Joseph, Shankar Venkat, Chowns Jessica, Marzolf Amy, Owens Anjali, Ahrens-Nicklas Rebecca C
Abstract excerpt
MYH7, encoding the myosin heavy chain sarcomeric β-myosin 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 MHY7. One previous case of single ventricle CHD...
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