Figure 2.

Pedigrees of four families with hypertrophic cardiomyopathy (HCM) with representative β MHC mutations. Symbols indicate sex and disease status: box, male; circle, female; arrow = proband; darkened = clinical phenotype of HCM; clear = no diagnostic features (clinical, ECG, echocardiography) of HCM; slashed, deceased; HD40, HCM related death at age ⩽ 40 years; HD60, HCM related death at age ⩽ 60 years (deaths include aborted sudden death or cardiac transplantation). Family members were tested for the specific mutation detected in the proband. Plus (+) signs indicate the presence of the genetic defect and minus (−) signs indicate the absence of the mutation. (A) Pedigree of one family with non-conservative actin binding defect, the Arg403Gln mutation. Family is characterised by five premature HCM related deaths (including one early aborted sudden death and one cardiac transplant) and significant cardiovascular morbidity (see text and table 2). (B) Pedigree of family with conservative actin binding defect, the Val404Leu missense mutation. Two premature HCM related deaths have occurred among 12 affected subjects through four generations. (C) Pedigree of family with non-conservative rod defect, the Arg870Cys defect. Three premature deaths (average age at death 52 (7) years) have occurred in this kindred. (D) Pedigree of large kindred with conservative rod defect, the Leu908Val defect. There has been one premature death among 13 affected family members through four generations.