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[Four cases of Fabry's disease mimicking hypertrophic cardiomyopathy]
H Tanaka1, K Adachi, Y Yamashita
1Third Department of Internal Medicine, Kurume University School of Medicine, Fukuoka.
Insights
Fabry's disease can mimic hypertrophic cardiomyopathy (HCM), presenting with cardiac hypertrophy. Early diagnosis is crucial as genetic factors influence its varied cardiac manifestations.
Area of Science:
- Cardiology
- Genetics
- Pathology
Background:
- Fabry's disease is a rare genetic disorder that can affect multiple organs, including the heart.
- Cardiac involvement in Fabry's disease can manifest as hypertrophic cardiomyopathy (HCM)-like features.
Observation:
- Four patients diagnosed with Fabry's disease via endomyocardial biopsy presented with cardiac hypertrophy.
- Clinical presentations included exertional dyspnea, cardiomegaly, ECG abnormalities (short PQ interval, ST-T changes, left ventricular hypertrophy), and echocardiographic findings of symmetrical or asymmetrical septal hypertrophy.
Findings:
- Histopathological examination revealed cytoplasmic vacuolization and electron-dense lamellar deposits, characteristic of Fabry's disease.
- Biochemical analysis confirmed elevated urinary glycolipids in one patient, supporting the diagnosis.
- Genetic factors contribute to the diverse cardiac manifestations observed in Fabry's disease.
Implications:
- Fabry's disease should be considered in the differential diagnosis of patients presenting with clinical features of HCM.
- Recognizing these cardiac manifestations is vital for timely diagnosis and management of Fabry's disease.
- This highlights the importance of integrating clinical, imaging, and histopathological findings for accurate diagnosis.
Abstract:
Four patients with Fabry's disease diagnosed by right ventricular endomyocardial biopsy had cardiac manifestations simulating hypertrophic cardiomyopathy (HCM). Case 1: A 51-year-old woman, whose elder sister had congestive heart failure, was hospitalized for exertional dyspnea and cardiomegaly. Her electrocardiogram (ECG) showed a short PQ interval (0.10 sec) and left ventricular hypertrophy. Her echocardiogram (Echo) showed moderate symmetrical hypertrophy of the left ventricle (IVST/PWT = 18 mm/17 mm). Case 2: A 32-year-old woman, whose elder sister had an abnormal ECG, was hospitalized for the ECG abnormalities consisting of a short PQ interval (0.10 sec) and ST-T changes in the left precordial leads. The Echo revealed mild symmetrical hypertrophy of the left ventricle (IVST = 13 mm, PWT = 13 mm). Case 3: A 44-year-old man was hospitalized for his ECG suggestive of left ventricular hypertrophy, and his Echo showed asymmetrical septal hypertrophy (ASH; IVST = 22 mm). Case 4: A 51-year-old man was hospitalized for his ECG showing high voltage in the left precordial leads, and his Echo showed ASH (IVST = 20 mm). The cardiac histopathological findings of these cases included cytoplasmic vacuolization by light microscopy, and electron-dense deposits consisting of parallel or concentric lamellae with periodic spacing, suggesting Fabry's disease. The urinary glycolipids of Case 1 were increased biochemically; then the diagnosis of Fabry's disease was confirmed. Cardiac hypertrophy in Fabry's disease has many aspects, because the histopathological changes and clinical manifestations are determined by genetic factors. It was concluded that Fabry's disease may be concealed in some patients with the clinical diagnosis of HCM.