Cardiac Manifestations in Fabry Disease: A Case Report on Two Siblings

TL;DR

This case report describes two siblings with Fabry disease showing different heart issues, emphasizing early diagnosis and the role of advanced imaging.

Contribution

The novelty lies in highlighting distinct cardiac manifestations in siblings with FD and the utility of CMR for early detection.

Findings

A 42-year-old male with FD showed severe LVH and non-ischemic fibrosis confirmed by CMR.

A 36-year-old sibling had early cardiac involvement detected by reduced T1-mapping values before ultrasound changes.

Early ERT in both cases led to normalization of cardiac markers and successful kidney transplants.

Abstract

Background/objectives: Anderson-Fabry disease (FD) is a rare hereditary disorder caused by deficient alpha-galactosidase A activity, which leads to multisystemic complications, including significant cardiac involvement. In this case report, we describe two siblings with distinct cardiac manifestations of FD. Methods: The medical data of two siblings who were managed and treated at a tertiary hospital center in Croatia were obtained by detailed analysis of electronic medical records. All available data were structured in chronological order. Results: A 42-year-old male with chronic renal failure and severe left ventricular hypertrophy (LVH) was diagnosed with FD during testing for inclusion on the kidney transplant waiting list. The diagnosis was confirmed by cardiac magnetic resonance imaging (CMR), which revealed non-ischemic fibrosis typical of FD. Following enzyme replacement therapy (ERT), he underwent a successful kidney transplantation. The second case describes the 36-year-old brother, who was diagnosed through family screening and, despite normal initial cardiac ultrasound findings, exhibited early cardiac involvement through reduced T1-mapping values. Immediate initiation of ERT led to normalization of T1 values and successful renal transplantation. Conclusions: This report underscores the importance of family screening and early diagnosis in FD and highlights the role of CMR in detecting preclinical cardiac involvement.

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