Pinheiro Luísa, De Castro Margarida, Cordeiro Filipa, Pereira Tamara, Ferreira Francisco, Sanfins Víctor, Lourenço António, Azevedo Olga
Department of Cardiology, Alto Ave Local Health Unit, Senhora da Oliveira Hospital, Guimarães.
Monaldi Arch Chest Dis. 2025 Jun 19. doi: 10.4081/monaldi.2025.3526.
A 59-year-old man presented with recurrent syncope and was found to have bifascicular block and severe concentric left ventricular hypertrophy. A permanent double-chamber pacemaker was implanted. Initial investigations revealed elevated transferrin saturation and homozygosity for the HFE gene p.C282Y variant, indicating hereditary hemochromatosis. However, cardiac magnetic resonance imaging showed inferolateral intramyocardial late gadolinium enhancement (LGE) without evidence of iron deposition, raising suspicion for Fabry disease (FD). This was confirmed by low α-galactosidase A activity and detection of the pathogenic GLA p.F113L variant. Multisystemic evaluation revealed additional FD manifestations, and enzyme replacement therapy was initiated, later switched to oral migalastat. The patient subsequently developed left ventricular systolic dysfunction and apical thrombus, attributed to high ventricular pacing burden, and was scheduled for cardiac resynchronization therapy (CRT) device implantation. Before the upgrade, he suffered a cardiac arrest due to ventricular fibrillation, associated with coronary artery stenosis, requiring CRT-D implantation. Despite device therapy and amiodarone initiation, recurrent ventricular tachycardias (VTs) persisted, leading to percutaneous coronary intervention and electrical stability. This case highlights the diagnostic complexity of overlapping cardiac diseases, the significance of inferolateral LGE and conduction abnormalities in suspecting FD, and the crucial role of family screening. The p.F113L variant is associated with late-onset, cardiac-predominant FD, where bradyarrhythmias are more prognostically relevant, but concurrent pathologies like coronary artery disease must be considered in VT presentations.
一名59岁男性因反复晕厥就诊，被发现存在双分支阻滞和严重的同心性左心室肥厚，植入了永久性双腔起搏器。初步检查显示转铁蛋白饱和度升高以及HFE基因p.C282Y变异的纯合性，提示遗传性血色素沉着症。然而，心脏磁共振成像显示下外侧心肌内晚期钆增强（LGE），但无铁沉积迹象，这引发了对法布里病（FD）的怀疑。低α-半乳糖苷酶A活性和致病性GLA p.F113L变异的检测证实了该病。多系统评估发现了更多FD表现，并开始了酶替代治疗，后来改为口服米加司他。患者随后出现左心室收缩功能障碍和心尖血栓，归因于心室起搏负担过重，并计划植入心脏再同步治疗（CRT）装置。在升级之前，他因室颤发生心脏骤停，伴有冠状动脉狭窄，需要植入CRT-D。尽管进行了器械治疗并开始使用胺碘酮，但仍有反复发作的室性心动过速（VT），导致进行经皮冠状动脉介入治疗并实现电稳定性。该病例突出了重叠性心脏病的诊断复杂性、下外侧LGE和传导异常在怀疑FD中的意义以及家族筛查的关键作用。p.F113L变异与晚发性、以心脏为主的FD相关，其中缓慢性心律失常在预后方面更具相关性，但在VT表现中必须考虑冠状动脉疾病等并发疾病。
