Familial hypertrophic cardiomyopathy is an autosomal dominant myocardial disorder characterized by left ventricle hypertrophy with histological features of myocyte hypertrophy, myofibrillar disarray, and interstitial fibrosis. The disease has a broad spectrum of clinical manifestations from a benign asymptomatic course to a malignant course with serious arrhythmias, heart failure, and sudden cardiac death. One of the most common genetic causes for hypertrophic cardiomyopathy involves mutations in cardiac myosin-binding protein C (MYBPC3) gene. The c.3330+2T>G (p.Asp1064Glyfs*38) variant at the splice-donor site of intron 30 in the MYBPC3 gene is the most frequent pathogenic variant found in Amish population. The homozygous c.3330+2T>G variant has been reported in Old Order Amish children with severe hypertrophic cardiomyopathy. This test will specifically analyze the c.3330+2T>G variant.
1 - 2 weeks