Bei Evangelia, Antonopoulos Alexios S, Tsivgoulis Georgios, Vlachopoulos Charalambos
Unit of Inherited Cardiac and Rare Diseases, First Department of Cardiology, National and Kapodistrian University of Athens, 114 Vas. Sofias Avenue, 11527 Athens, Greece.
Second Department of Neurology, Attikon General Hospital, National and Kapodistrian University of Athens, 1 Rimini st, 12462 Haidari, Greece.
Eur Heart J Case Rep. 2023 Apr 30;7(5):ytad224. doi: 10.1093/ehjcr/ytad224. eCollection 2023 May.
This is a case report of a patient with Anderson-Fabry disease (AFD) due to the D313Y variant on the a-galactosidase A () gene on migalastat treatment and severe chronic kidney disease referred to our unit to assess possible cardiac involvement.
A 53-year-old man with chronic kidney disease due to AFD and a medical history of revascularized coronary artery disease, chronic atrial fibrillation, and arterial hypertension was referred to our unit for evaluation of possible cardiac involvement in the context of AFD. Biochemical evaluation reported reduced serum alpha-galactosidase A activity and borderline abnormal serum lyso-Gb enzyme activity. The patient had also history of acroparesthesias, dermatological presentation of multiple angiokeratomas, severe kidney impairment with an estimated glomerular filtration rate (eGFR) of 30 mL/min/1.73m² by the age of 16, and microalbuminuria that cumulatively set the diagnosis of AFD. Transthoracic echocardiogram showed left ventricular concentric hypertrophy with left ventricular ejection fraction of 45%. Cardiac magnetic resonance showed findings in keeping with ischaemic heart disease (IHD), i.e. akinesia and subendocardial scarring of the basal anterior and the entirety of the septum and the true apex; in addition, there was severe asymmetrical hypertrophy of the basal anteroseptum (max 18 mm), evidence of low-grade myocardial inflammation, and mid-wall fibrosis of the basal inferior and inferolateral wall, suggesting a cardiomyopathic process-myocardial disease which could not be explained solely by IHD or well-controlled hypertension.
This is the first case of possible cardiac involvement in a patient with AFD due to the D313Y variant. This case demonstrates the diagnostic challenges of cardiac involvement in AFD, especially in the presence of a concomitant underlying pathology.
本文是一例因α-半乳糖苷酶A（α-Gal A）基因D313Y变异导致安德森-法布里病（AFD）的患者在接受米加司他治疗及患有严重慢性肾脏病时，转诊至我院评估可能存在的心脏受累情况的病例报告。
一名53岁男性，因AFD患有慢性肾脏病，有冠状动脉血运重建病史、慢性心房颤动和动脉高血压，转诊至我院以评估AFD背景下可能存在的心脏受累情况。生化评估显示血清α-半乳糖苷酶A活性降低，血清溶酶体Gb酶活性临界异常。患者还有肢端感觉异常病史、多发性血管角质瘤的皮肤表现、严重肾脏损害，16岁时估计肾小球滤过率（eGFR）为30 mL/min/1.73m²，以及微量白蛋白尿，综合这些表现确诊为AFD。经胸超声心动图显示左心室向心性肥厚，左心室射血分数为45%。心脏磁共振显示符合缺血性心脏病（IHD）的表现，即基底前壁、整个室间隔和真正的心尖运动减弱及心内膜下瘢痕形成；此外，基底前间隔有严重不对称肥厚（最大18 mm），有低度心肌炎症证据，基底下壁和下侧壁中层纤维化，提示存在心肌病过程——心肌疾病，不能仅用IHD或控制良好的高血压来解释。
这是首例因D313Y变异导致AFD患者可能存在心脏受累的病例。该病例展示了AFD心脏受累的诊断挑战，尤其是在存在合并基础疾病的情况下。
