Clinical Features and Prognostic Implications of Familial Hypertrophic Cardiomyopathy Related to the Cardiac Myosin-Binding Protein C Gene

Abstract

These results are consistent with specific clinical features related to the MYBPC3 gene: onset of the disease appears delayed and the prognosis is better than that associated with the beta-MHC gene. These findings could be particularly important for the purpose of clinical management and genetic counseling in familial hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy complicated by severe bradycardias: A pedigree report

“…Familial hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder, caused by various mutations in genes encoding the components of the thick filaments (e.g., cardiac ␤-myosin heavy chain and regulatory myosin light chains), components of thin filaments (cardiac troponin T, troponin I, and alpha-tropomyosin) and cardiac myosin-binding protein C. [1][2][3][4] The prognosis of affected subjects is markedly different, depending on the genotype and phenotype. [1][2][3][4] Sudden death occurs in approximately 50% of patients, usually precipitated by atrial or ventricular tachycardias.…”

“…[1][2][3][4] Sudden death occurs in approximately 50% of patients, usually precipitated by atrial or ventricular tachycardias. We report a rare pedigree of individuals with familial HCM who have severe bradycardias and suffered subsequent sudden death.…”

Hypercontractile Properties of Cardiac Muscle Fibers in a Knock-in Mouse Model of Cardiac Myosin-binding Protein-C

“…FHC is known to be a disease of the sarcomere; mutations in at least eight different sarcomeric protein genes have been identified as yet (14,15). Mutations in cMYBPC account for ϳ15-20% of genetically defined FHC cases, but the cMyBP-C-linked types of FHC present as relatively benign phenotypes with mild hypertrophy at mid-life (16,17). Most cMyBP-C lesions show C-terminal truncated polypeptides lacking either the myosin or myosin and titin binding sites, but some lesions are also caused by missense mutations occurring in more N-terminal regions of the protein (16).…”

MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India

“…Even among family members with the same mutation, disease expression seems to differ (2,15), suggesting the role of other factors such as sex, physical activity, nutrition, ethnic background, modifier gene effects and other genetic markers in its etiology (16)(17)(18)(19). (20)(21). Because carriers of MyBPC mutation can be completely asymptomatic, it is possible that the mutation is more prevalent than previously thought.…”