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Cardiac Manifestations in Fabry Disease: A Case Report on Two Siblings
Slavica Kovačić1,2, Tin Nadarević1,2, Petar Žauhar1
1Department of Diagnostic and Interventional Radiology, University Hospital Centre Rijeka, 51000 Rijeka, Croatia.
Insights
Early diagnosis of Anderson-Fabry disease (FD) in siblings is crucial. Cardiac magnetic resonance imaging aids in detecting preclinical cardiac involvement, enabling timely enzyme replacement therapy and successful transplantation.
Area of Science:
- Genetics
- Cardiology
- Rare Diseases
Background:
- Anderson-Fabry disease (FD) is a rare X-linked lysosomal storage disorder.
- Deficient alpha-galactosidase A activity causes progressive multisystemic complications.
- Cardiac involvement is a significant and often underdiagnosed manifestation of FD.
Observation:
- Two siblings with Anderson-Fabry disease presented with distinct cardiac manifestations.
- One sibling had severe left ventricular hypertrophy and chronic renal failure.
- The other sibling showed early cardiac involvement with reduced T1-mapping values despite normal echocardiograms.
Findings:
- Cardiac magnetic resonance imaging (CMR) confirmed non-ischemic fibrosis in the older sibling.
- Family screening identified the younger sibling, leading to early diagnosis.
- Enzyme replacement therapy (ERT) normalized T1 values in the younger sibling.
- Both siblings underwent successful kidney transplantation.
Implications:
- This case report highlights the importance of family screening in patients diagnosed with FD.
- CMR is valuable for detecting preclinical cardiac involvement in FD.
- Early diagnosis and initiation of ERT can prevent disease progression and improve outcomes.
- Multidisciplinary management is essential for addressing the complex manifestations of FD.
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.
