Department of Cardiology, University Hospital Antwerp, Antwerp, Belgium.
Department of Cardiac Surgery, University Hospital Antwerp, Antwerp, Belgium.
Acta Cardiol. 2024 Aug;79(6):642-649. doi: 10.1080/00015385.2024.2346873. Epub 2024 Jun 13.
Left ventricular (LV) hypertrophy is a common clinical finding. Differential diagnosis includes Fabry disease, a rare and progressive, but treatable storage disease caused by deficiency of α-galactosidase A. However, diagnosis of Fabry is often hampered by its clinical heterogeneity, LV hypertrophy phenocopies and unawareness of the clinician.
This review summarises clinical data, family history, electrocardiogram (ECG) and imaging (echocardiogram and cardiovascular magnetic resonance (CMR)) characteristics to differentiate aetiologies of LV hypertrophy including clues for the diagnosis of Fabry.
LV hypertrophy is a consequence of pressure overload mostly, but differential diagnosis includes hypertrophic cardiomyopathy and infiltrative diseases. Clinical data, ECG, type and degree of LV hypertrophy, functional and tissue characteristics differ among aetiologies. LV hypertrophy in Fabry is progressive and mostly concentric but may copy any hypertrophic cardiomyopathy. Dependent on residual alfa-galactosidase A enzyme activity, degree of LV hypertrophy in Fabry may vary. Initially, low myocardial CMR T1-map values are calculated. At a later stage, midwall late gadolinium enhancement of the inferolateral LV wall may occur. Global longitudinal strain may be depressed in the inferolateral wall. Voltage criteria for LV hypertrophy and short PQ interval are common. Right ventricular (RV) hypertrophy is frequent. In addition, multisystemic symptoms including neuropathic pain, hypohidrosis, proteinuria, renal insufficiency and familial young stroke are pointing to Fabry.
LV hypertrophy should raise suspicion of Fabry disease, especially if LV hypertrophy is unexplained and/or associated with RV hypertrophy. In Fabry, LV hypertrophy may be heterogeneous and mimic any hypertrophic cardiomyopathy. ECG, multisystemic symptoms and imaging may provide clues for Fabry.
左心室（LV）肥大是一种常见的临床发现。鉴别诊断包括法布里病，这是一种罕见的、进行性的，但可治疗的贮积病，由α-半乳糖苷酶 A 的缺乏引起。然而，法布里病的诊断常常受到其临床表现的异质性、LV 肥大表型和临床医生缺乏认识的阻碍。
本综述总结了临床数据、家族史、心电图（ECG）和影像学（超声心动图和心血管磁共振（CMR））特征，以区分包括法布里病在内的 LV 肥大的病因。
LV 肥大主要是压力超负荷的结果，但鉴别诊断包括肥厚型心肌病和浸润性疾病。临床数据、ECG、LV 肥大的类型和程度、功能和组织特征在不同病因中有所不同。法布里病的 LV 肥大是进行性的，主要是向心性的，但可能模仿任何肥厚型心肌病。根据残余的α-半乳糖苷酶 A 酶活性，法布里病的 LV 肥大程度可能有所不同。最初，计算出心肌 CMR T1 图的低数值。在后期，可能会出现下外侧 LV 壁的中壁晚期钆增强。下外侧壁的整体纵向应变可能会降低。LV 肥大的电压标准和短 PQ 间期很常见。右心室（RV）肥大很常见。此外，包括神经痛、少汗、蛋白尿、肾功能不全和家族性年轻中风在内的多系统症状提示可能患有法布里病。
LV 肥大应怀疑法布里病，尤其是当 LV 肥大不明原因且/或伴有 RV 肥大时。在法布里病中，LV 肥大可能是异质性的，并模仿任何肥厚型心肌病。ECG、多系统症状和影像学检查可为法布里病提供线索。
