Mitral Valvuloplasty for Mitral Regurgitation in an Atypical Variant of Cardiac Fabry Disease / 日本心臓血管外科学会雑誌

ABSTRACT

We report a case of mitral regurgitation due to an atypical variant of Fabry disease. A 60-year-old man was admitted to our hospital. He had a history of myocardial infarction and heart failure, and was repeatedly admitted for worsening heart failure (NYHA class II to III). A follow-up echocardiogram revealed deteriorating dilated cardiomyopathy and mitral regurgitation. We performed valvuloplasty for mitral regurgitation. Cardiomyopathy was suspected during the operation and myocardial biopsy was performed. We diagnosed Fabry disease by histopathological findings. After the operation, his heart failure temporarily improved. Heart failure worsened 4 months later. He died of heart failure a year later from the operation. Fabry disease (α-galactosidase-A deficiency) is an inherited metabolic disease. In Fabry disease, angina, myocardial infarction, hypertrophic cardiomyopathy, dilated cardiomyopathy, and mitral regurgitation are common cardiac manifestations. Recently, an atypical variant of Fabry disease, with manifestations limited to the heart, has been increasingly reported. This case suggested that we might encounter Fabry disease with only cardiac manifestations such as cardiomyopathy and valvular disease in routine clinical work.