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

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.