心筋症の遺伝子診断

Keiichi Hirono; 廣野恵一

doi:10.9794/jspccs.40.71

心筋症の遺伝子診断Genetic Testing for Cardiomyopathy

廣野恵一Keiichi Hirono

富山大学医学部小児科Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan

発行日：2024年5月31日Published: May 31, 2024

心筋症とは，心機能障害を伴う心筋疾患と定義され，原因はしばしば遺伝性である．小児の心筋症では様々な遺伝子に様々な変異があり，遺伝的多様性が特徴である．遺伝形式も常染色体顕性，常染色体潜性，X連鎖性，ミトコンドリア性と様々である．遺伝性心筋症の特徴として，同一遺伝子内の異なる変異は異なる病型を示すこと，遺伝子変異の多くが稀で同一のホットスポットや変異を有することは稀であること，同一の家族内でも様々な浸透率を示すことが挙げられる．また，同一の遺伝子変異を有していたとしても，臨床経過，転帰は同一家族内でも様々である．家族を含めた遺伝学的検査を行うことが重要であり，遺伝学的背景を念頭においた包括的な診療が不可欠である．

Cardiomyopathy is a myocardial disease that is accompanied by impaired heart function and often has a genetic cause. In pediatric cardiomyopathy, the presence of various gene variants highlights genetic diversity as a characteristic feature. Genetic forms can be autosomal dominant, autosomal recessive, X-linked, or mitochondrial, among others. Genetic cardiomyopathy is characterized by different clinical presentations of different variants within the same gene. Most gene variants are rare, and having the same hotspot or variant is uncommon. Even within the same family, these genetic variants can exhibit varying degrees of penetrance. Furthermore, even if individuals within the same family share the same genetic variant, their clinical courses and outcomes can differ significantly. For comprehensive patient care, consideration of the genetic background by genetic testing, including family members, is crucial.

Key words: gene; pathogenic variant; dilated cardiomyopathy; hypertrophic cardiomyopathy; left ventricular noncompaction

日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

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心筋症の遺伝子診断Genetic Testing for Cardiomyopathy