A diagnostic challenge of advanced-stage cardiac Fabry disease without left ventricular hypertrophy: a case report

Abstract Background Fabry disease is a rare, X-linked lysosomal storage disorder, leading to α-galactosidase A deficiency. The primary cardiac involvement is left ventricular (LV) hypertrophy (LVH), which can progress to LV dysfunction, heart failure, and fatal arrhythmias. We present a diagnostically challenging case of advanced-stage cardiac Fabry disease with worsening LV dysfunction without LVH. Case summary A 72-year-old woman with a family history of dilated cardiomyopathy was referred for regular follow-up. The initial electrocardiogram 14 years ago showed a shortened PQ interval minus the P-wave interval and inverted T waves; however, LVH was not observed. Three years prior, echocardiography revealed inferolateral wall thinning, and computed tomography and magnetic resonance imaging confirmed fatty infiltration and transmural late gadolinium enhancement in the thinned inferolateral wall. Two years later, she was admitted for heart failure, with LV ejection fraction decreasing to 29%. Owing to progressive LV dysfunction and family history, comprehensive genetic testing was performed, identifying a pathogenic GLA variant c.902G>A (p.Arg301Gln) that confirmed Fabry disease. Enzyme replacement therapy was initiated. Discussion This case demonstrates that advanced-stage cardiac Fabry disease can progress to LV dysfunction, wall thinning, and fibrosis in the absence of prior LVH. Electrocardiogram abnormalities and multimodal imaging findings, such as wall thinning, fatty infiltration, and late gadolinium enhancement, are key indicators of cardiac Fabry disease. This case emphasizes the importance of comprehensive evaluation for early diagnosis, including electrocardiography, echocardiography, computed tomography, and magnetic resonance imaging, even without LVH.