https://orcid.org/0000-0002-2313-017X
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Hiroto Kawamura, Kazuto Nakamura, Akira Sato, Asymptomatic female heterozygous Fabry disease diagnosed through medical check-up, European Heart Journal, Volume 45, Issue 41, 1 November 2024, Page 4447, https://doi.org/10.1093/eurheartj/ehae608
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A 59-year-old woman was diagnosed with abnormal electrocardiogram during a medical check-up. These abnormalities had been pointed out before but had not been subject to scrutiny. Electrocardiogram findings were left ventricular (LV) strain pattern in leads II, III, aVF, and V4–V6 (Panel A). An echocardiogram showed normal LV wall motion but diffuse LV hypertrophy, with a hypertrophic cardiomyopathy phenotype (Panel B; Supplementary data online, Movie A). She had no particular symptoms, nor did she have any medical or family history. Mulberry bodies were detected in her urine (Panel C), and Fabry disease was suspected. α-Galactosidase activity was normal. On cardiac magnetic resonance imaging (MRI), cine MRI showed normal LV wall motion and concentric LV hypertrophy (Panel D; Supplementary data online, Movie B), late gadolinium enhancement was shown in the middle layer of the LV lateral wall (Panel E), T1 mapping showed normal pattern (standard value in our facility, 1202 ms; Panel F), and extracellular volume showed higher than standard range (Panel G). Coronary angiogram showed no stenosis in her coronary artery (Panel H; Supplementary data online, Movies C and D). In cardiac biopsy, light microscopy showed typical vacuolar degeneration (Panel I), and electron microscopy showed zebra bodies (Panel J). Finally genetic testing led to diagnosis of female heterozygous Fabry disease. Fabry disease is an extremely rare disease, and in many cases, the diagnosis is based on family history. It is very difficult to diagnose asymptomatic female heterozygous Fabry disease, but it is one of the differential diagnoses when the patient exhibits the phenotype of hypertrophic cardiomyopathy.
