A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans

“…To date, hundreds of mutations in over 15 genes have been implicated in the pathogenesis of HCM. The most common subtype of HCM is myofilament-HCM secondary to mutations in myosin binding protein C (MYBPC3), β-myosin heavy chain (MYH7), cardiac troponin T (TNNT2), α-tropomyosin (TPM1), cardiac troponin I (TNNI3), cardiac actin (ACTC), regulatory myosin light chain (MYL2), and essential myosin light chain (MYL3) [3][4][5][6][7][8][9]. Genetic alterations in these eight common myofilament genes have been found in 30 -61% of HCM patients in different cohorts around the world [10].…”

Myocardial energy depletion and dynamic systolic dysfunction in hypertrophic cardiomyopathy

“…A crucial advance in our understanding of HCM was made in 1990 with the first report of a disease-associated mutation 4 . Subsequently, multiple disease-associated mutations have been discovered, most coding for sarcomeric proteins 5 .…”

Predict, prevent and personalize: Genomic and proteomic approaches to cardiovascular medicine

“…Hypertrophic cardiomyopathy is known as a disease of the sarcomere and is inherited as an autosomal dominant trait in at least one-half of all cases. The first causal mutation in the beta-myosin heavy chain was described in a large French-Canadian family in 1990 (25). Monogenic causes have been identified for many other cardiovascular disorders, including dyslipidemia (26), coronary disease (27), dilated cardiomyopathy (28), long QT syndrome (29), arrhythmogenic right ventricular cardiomyopathy (30) and atrial fibrillation (31).…”