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Close relatives: distant relations

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Hypertrophic cardiomyopathy (HCM) is caused by mutations affecting sarcomeric proteins, but a study in one family has suggested that variations in other genes influence the severity of the condition.

Five gene polymorphisms of the renin-angiotensin-aldosterone system (RAAS) influenced hypertrophy in one family with HCM caused by a single mutation of the MyBP-C gene.

Among the 26 family members with the mutation (“carriers”), the 16 with one polymorphism or more—grouped together as “pro-left ventricular hypertrophy” (pro-LVH) genotypes—had significantly increased left ventricular mass and interventricular septum diameter compared with 10 carriers who did not (mean 320 (SD 113) g v 190 (48) g and 16.4 (6.7) mm v 11.5 (92.0) mm respectively). Having more than one polymorphism led to a corresponding rise in left ventricular hypertrophy.

Individual polymorphisms were each significantly related to left ventricular hypertrophy when compared with non-pro-LVH genotypes. Multivariate analysis, controlling for age, sex, and blood pressure, confirmed an independent association for each except for CMA AA, the cardiac chymase A gene.

Polymorphic alleles occurred with similar frequency in the 26 carriers, other family members, and unrelated controls; also the proportions of pro-LVH genotypes among carriers were equivalent to those in the controls.

The family comprised 48 adults: 26 had MyBP-C mutation (nine had HCM according to WHO diagnostic criteria, five were borderline, and 12 did not conform) and the remaining 22 were unaffected. The control population was 100 unrelated patients from the same area without HCM or a family history of the disease.

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