Fabry disease due to D313Y variant with renal failure and possible cardiac involvement: a case report

Abstract

Abstract Background This is a case report of a patient with Anderson–Fabry disease (AFD) due to the D313Y variant on the a-galactosidase A (GLA) gene on migalastat treatment and severe chronic kidney disease referred to our unit to assess possible cardiac involvement. Case summary A 53-year-old man with chronic kidney disease due to AFD and a medical history of revascularized coronary artery disease, chronic atrial fibrillation, and arterial hypertension was referred to our unit for evaluation of possible cardiac involvement in the context of AFD. Biochemical evaluation reported reduced serum alpha-galactosidase A activity and borderline abnormal serum lyso-Gb3 enzyme activity. The patient had also history of acroparesthesias, dermatological presentation of multiple angiokeratomas, severe kidney impairment with an estimated glomerular filtration rate (eGFR) of 30 mL/min/1.73m² by the age of 16, and microalbuminuria that cumulatively set the diagnosis of AFD. Transthoracic echocardiogram showed left ventricular concentric hypertrophy with left ventricular ejection fraction of 45%. Cardiac magnetic resonance showed findings in keeping with ischaemic heart disease (IHD), i.e. akinesia and subendocardial scarring of the basal anterior and the entirety of the septum and the true apex; in addition, there was severe asymmetrical hypertrophy of the basal anteroseptum (max 18 mm), evidence of low-grade myocardial inflammation, and mid-wall fibrosis of the basal inferior and inferolateral wall, suggesting a cardiomyopathic process–myocardial disease which could not be explained solely by IHD or well-controlled hypertension. Discussion This is the first case of possible cardiac involvement in a patient with AFD due to the D313Y variant. This case demonstrates the diagnostic challenges of cardiac involvement in AFD, especially in the presence of a concomitant underlying pathology.