拡張型心筋症様症例と肥大型心筋症が混在した家族性心筋症の2家系—ASHとHLA分析の意義

Significance of HLA analysis and penetrance of ASH in familial cardiomyopathy with coexisting hypertrophic and dilatedlike types in two families

　一般に異なる疾患単位として考えられている肥大型心筋症（HCM）と拡張型心筋症（DCM），あるいはDCM類似の症例が混在した2家系を対象に，ASH（asymme—tric septal hypertrophy）とHLA（human leukocyteantigen）タイプに注目し分析した。なお発端者は，理学所見，臨床諸検査，心内膜心筋生検を含む心カテーテル検査で特定心筋疾患を除外し診断した2症例である。家族調査は，問診，理学所見，心電図，心エコー図およびHLA分析を用いた。

In this study we performed human leucocyte antigen (HLA) typing on two patients with dilated-like cardio-myopathy, and their relatives. The diagnosis of the two probands was extablished by cardiac catheterization and endomyocardial biopsy. HLA antigens were determined by the microdroplet lymphocyte cytotoxicity test.

One proband had a sister who had hypertrophic cardiomyopathy with asymmetric septal hypertrophy (ASH) and a brother with sudden death. The other proband also had a sister who had hypertrophic cardio-myopathy with ASH, and a son with definite electro-cardiographic abnormality. HLA analysis of 2 families revealed very close associations of a given HLA haplo-type with the occurrence of the diseases.

A close association of certain HLA haplotypes with the occurrence of hypertrophic cardiomyopathy in a family study has already been reported by us. Thus, HLA analysis and penetrance of ASH in a family study is a hallmark of familial cardiomyopathy of hypertrophic type even if the proband seems to be dilated type.