[Genetics of hypertrophic cardiomyopathies: what are the clinical perspectives?].
Considerable progress has been accomplished in the understanding of the genetics of familial hypertrophic cardiomyopathy over the last five years. This is a monogenic autosomal dominant condition with much inter- and intragenic variability. Four morbid genes coding for the contractile proteins have been identified: the heavy beta chain of cardiac myosin (14q11), cardiac troponin T (1q3), alpha tropomyosin (15q2), and myosin binding cardiac C protein (11p13-q-13). In addition, other genetic localisations not yet identified are certain. Moreover, many mutations have been reported in the already identified genes. The principal clinical perspectives ot this research lie in the analysis of the relationships between phenotype (clinical expression) and genotype with respect to prognosis, the severity and morphology of the hypertrophic process, the reevaluation of our diagnostic criteria and the long-term follow-up of the many healthy carriers in the identified families. The genetic heterogeneity of the disease is a limiting factor in genetic counselling and there are ethical problems related to the absence of effective treatment.
Komajda
M
M
Service de cardiologie, CHU Pitié-Salpêtrière, Paris.
D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics*; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D006801:Humans; D008840:Microfilament Proteins / Q000235:genetics; D010641:Phenotype; D017354:Point Mutation; D011110:Polymorphism, Genetic; D018487:Ventricular Dysfunction, Left
D008840:Microfilament Proteins