A genetic study in hypertrophic cardiomyopathies (Czech population).
In order to verify the type of heredity and to identify other genealogical characteristics in the Czech population, the authors examined 105 families with incidence of hypertrophic cardiomyopathy (HCM). The probands' siblings presented a 24-percent empiric risk of the disease; in male probands the risk for brothers was four times that for sisters, in female probands it was three times higher for sisters than brothers. Sex ratio of affected siblings was 20:4 in male and 3:14 in female probands. Disease risk for children was substantially higher in younger probands (under 30 yrs. of age: 40%, above 51 yrs.: 6.7%). Reproduction fitness was decreased in the whole group more so in women. Gene penetration was estimated using the "safe carriers" method, as 50 p.c. Anticipation and more severe course were recorded in all families with HCM incidence in more than two generations. The HCM heredity does not resemble that of the autosomal dominant type. The heterogeneity, phenocopy and sexual modulation could not be excluded. Genetic counselling and, possibly, DNA diagnostics would be necessary to elucidate the hereditary nature of hypertrophic cardiomyopathy.
Gregor
P
P
2nd Department of Internal Medicine, 3rd School of Medicine, Královské Vinohrady Hospital, Prague, Czechoslovakia.
Cerný
M
M
D000293:Adolescent; D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003431:Cross-Cultural Comparison; D003604:Czechoslovakia; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D012307:Risk Factors