[Genetic changes and clinical management in familial hypertrophic cardiomyopathy].
Hypertrophic cardiomyopathy (HCM) is phenotypically and genotypically heterogeneous disease of heart. Nine chromosomal loci responsible for this condition have been identified: beta-myosin heavy chain, essential and regulatory myosin light chains, troponin T and I subunits, alpha-tropomosin, cardiac myosin binding protein C, cardiac actin and titin. These genes code for proteins involved in the contraction mechanism or in the control of contraction, therefore HCM has been classified as a disease of cardiac sarcomere. Over 107 mutations have been identified. More then half of them have been detected in the beta-myosin heavy chain gene (beta-MHC). Some mutations in beta-MHC gene are associated with a benign prognosis, other are associated with high incidence of sudden cardiac death (SCD) and severe hypertrophy. Mutations in myosin binding protein C are associated with mild, delayed expression of cardiac hypertrophy and benign prognosis. Mutations in cardiac troponinT are associated with a mild degree of hypertrophy but a high incidence of SCD. Study of genes responsible for HCM will assume role in the context of clinical management of HCM, in particular regarding diagnosis and prognosis patients and families with HCM.
Domal-Kwiatkowska
D
D
Smolik
S
S
Mazurek
U
U
Moric
E
E
Polońska
J
J
Nowalany-Kozielska
E
E
Glanowska
G
G
Wodniecki
J
J
Szarek
J
J
Wilczewski
P
P
Kozakiewicz
K
K
Tendera
M
M
Wilczok
T
T
D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000235:genetics*; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D008840:Microfilament Proteins / Q000235:genetics; D018995:Myosin Heavy Chains / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D011379:Prognosis; D019210:Troponin I / Q000235:genetics; D020107:Troponin T / Q000235:genetics
D008840:Microfilament Proteins; D019210:Troponin I; D020107:Troponin T; D018995:Myosin Heavy Chains