This article reports a rare case of Fabry disease with isolated cardiac involvement that presented ini-tially with abdominal fluid accumulation.The patient had been repeatedly hospitalized for abdominal distension and had undergone various examinations,with suspected cardiac ascites due to heart failure as the underlying cause.Despite prolonged use of diuretics and multiple abdominal paracentesis procedures,relief was only tempora-ry and the symptoms worsened over time.The patient was eventually diagnosed with Fabry cardiomyopathy based on enhanced cardiac computed tomography,Fabry gene screening,and α-Gal A enzyme activity analysis,and was treated with enzyme replacement therapy.It is notable that Fabry disease primarily presenting with systemic con-gestion or abdominal symptoms is extremely rare.This case highlights the importance of considering Fabry dis-ease screening in patients who present with unexplained right heart failure or restrictive cardiomyopathy,and initi-ating specific treatment as early as possible.
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