title: [Profiles of genotypes of familial hypertrophic cardiomyopathy according to data of clinical studies].
abstract: With the aim of studying clinical profiles of hereditary cases of hypertrophic cardiomyopathy (HCMP) we examined 64 patients with HCMP of both sexes (mean age 43.8+/-11.7 years). Genealogy of 40 patients (62.5%) revealed no cases of the disease among first degree relatives. They were defined as sporadic forms of HCMP. Genealogical screening revealed 22 patients (37.5%) with familial forms of HCMP. In 8 cases study of genealogy of probands detected 16 more patients. Results of assessment of familial history, ECG and echocardiographic investigations reflected degree of thickening of interventricular septum, asymmetric character of distribution of hypertrophy in the myocardium, and cases of sudden deaths in first degree relatives as possible hereditary signs in familial HCMP determining variations of clinical phenotype of the disease through interrelated disturbances of contractile and electrical myocardial functions.
authors.affiliation: Tbilisy, Gruzia. nodarkip2008@hotmail.com
authors.forename: N N
authors.initials: NN
authors.lastname: Kipshidze
authors.forename: K N
authors.initials: KN
authors.lastname: Liluashvili
authors.forename: M A
authors.initials: MA
authors.lastname: Rogava
mesh_terms: D000328:Adult; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000453:epidemiology; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005846:Georgia (Republic) / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D008297:Male; D010375:Pedigree; D015996:Survival Rate