Neculae Gabriela, Predescu Lucian, Popa Oana, Rusu Elena, Jurcut Ruxandra
Carol Davila University of Medicine and Pharmacy, Department 4 - Cardio-thoracic pathology, 37 Dionisie Lupu Street, 020021 Bucharest, Romania.
Expert Center for Rare Genetic Cardiovascular Diseases, Department of Cardiology, Emergency Institute for Cardiovascular Disease 'Prof Dr C.C.Iliescu', 258 Fundeni Street, 022328 Bucharest, Romania.
Eur Heart J Case Rep. 2024 Jul 8;8(7):ytae317. doi: 10.1093/ehjcr/ytae317. eCollection 2024 Jul.
Cardiac involvement in Fabry disease (FD) usually manifests as a concentric left ventricular hypertrophy with rare cases developing left ventricular outflow tract obstruction (LVOTO), symptoms varying from fatigue and exercise associated dyspnoea to angina or arrhythmias.
We present the case of a 54-year-old man with cardiovascular risk factors and aggravated exertional dyspnoea in the past year, in whom the echocardiography showed hypertrophic obstructive cardiomyopathy (HOCM). Cardiac magnetic resonance was used as differential diagnosis tool between sarcomeric HOCM and other phenocopies, suggesting a cardiac involvement of FD. Final diagnosis was formulated based on genetic testing and enzymatic activity of α-galactosidase. Left ventricular outflow tract obstruction was addressed by alcohol septal ablation successfully both in short term as well as at 1-year follow-up.
The present case illustrates the complex clinical pathway of a patient with HOCM due to FD, where multimodality imaging was instrumental from differential diagnosis to therapeutic choices, which addressed both the pathogenic background and the organ involvement. Although at the moment the number of patients with of FD cardiomyopathy undergoing LVOTO reduction therapies is scarce, current recommendations should be extended to also include these patients.
法布里病（FD）的心脏受累通常表现为同心性左心室肥厚，少数病例会出现左心室流出道梗阻（LVOTO），症状从疲劳和运动相关的呼吸困难到心绞痛或心律失常不等。
我们报告一例54岁男性，有心血管危险因素，在过去一年中劳力性呼吸困难加重，超声心动图显示为肥厚性梗阻性心肌病（HOCM）。心脏磁共振被用作鉴别肌节性HOCM和其他拟表型的诊断工具，提示FD的心脏受累。最终诊断基于基因检测和α-半乳糖苷酶的酶活性。酒精间隔消融术成功解决了左心室流出道梗阻问题，短期及1年随访均如此。
本病例说明了一名因FD导致HOCM患者的复杂临床路径，其中多模态成像在从鉴别诊断到治疗选择的过程中发挥了重要作用，既解决了致病背景，也解决了器官受累问题。尽管目前接受LVOTO减少治疗的FD心肌病患者数量稀少，但当前的建议应扩大到也包括这些患者。
