RESUMEN
The cardiac variant of Fabry disease (FD) has high rates of missed diagnosis and misdiagnosis due to the lack of systemic symptoms. Here, we report a case of a 68-year-old female with delayed-onset FD presenting as concentric left ventricular hypertrophy (LVH) with right bundle branch block, atrial fibrillation, and diastolic dysfunction, which was first presented with coronary artery spasm. Early cardiac-specific signs are crucial for diagnosing this disease due to the lack of extracardiac indications and the late onset of symptoms. This case raises a new red flag that patients with unexplained LVH and its atypical electrocardiographic (ECG) manifestations accompanied by diastolic dysfunction should be considered for FD. We also recommend further refinement of examinations associated with Fabry disease, which will contribute to the early diagnosis and treatment of the disease.
RESUMEN
Due to its low incidence, isolated cardiac sarcoidosis (ICS) is often missed or misdiagnosed. Herein, we describe a case of ICS in a 52-year-old male patient. Advanced imaging, including cardiac magnetic resonance (CMR) and fluorine-18 fluorodeoxyglucose positron emission tomography (FDG-PET), could not only screen high-risk patients for establishing diagnosis, but also guide endomyocardial biopsy (EMB) for improving cardiac disease detection rate. This case highlights the importance of multimodal imaging for screening and necessity of EMB for diagnosis.
