Clinic of Cardiology, İstanbul Okmeydanı Training and Research Hospital, İstanbul, Turkey
Department of Cardiology, İstanbul University Cerrahpaşa School of Medicine, İstanbul, Turkey
Balkan Med J. 2019 Oct 28;36(6):354-358. doi: 10.4274/balkanmedj.galenos.2019.2019.5.125. Epub 2019 Aug 26.
Fabry disease is an X-linked lysosomal storage disorder due to a deficiency of the α-galactosidase A enzyme. Cardiac involvement is present in over 60% of adult cases of Fabry disease. Hypertrophic cardiomyopathy without left ventricular outflow tract obstruction is the most common phenotype. The aim of the study was to screen adult patients with hypertrophic cardiomyopathy without left ventricular outflow tract.
A total of 80 patients between the ages of 18 and 65 years old, were referred to a tertiary center for trans-thoracic echocardiography for various clinical indications. They were investigated for the presence of idiopathic left ventricular hypertrophy without resting or dynamic left ventricular outflow tract obstruction. Plasma α-galactosidase A enzyme activity and α-galactosidase GLA gene mutations were investigated.
The mean age was 41.5±12.7 years and 66.25% of patients were males. The mean echocardiographic parameters were as follows: left ventricular ejection fraction 60.7±7.4%, interventricular septum thickness 18.2±4.4 mm, left ventricular posterior wall 13.5±2.1 mm, left ventricular end-diastolic diameter 47.4±6.2 mm, left ventricular end-systolic diameter 27.8±6.5 mm, and left ventricular mass index 171.05±48.5 g/m². Hemizygous mutations associated with Fabry disease were detected in two male patients (2.50% of the screened population): NM_000169.2:c.334C>T(p.Arg112Cys), NM_000169.2:c.902G>A(p.Arg301Gln).
Fabry disease should be considered in the differential diagnosis in a highly selected patient population with unexplained left ventricular hypertrophy. The cardiologist may play an important role in the screening and diagnosis of the disease.
法布瑞病是一种 X 连锁溶酶体贮积症，由于α-半乳糖苷酶 A 酶的缺乏。超过 60%的法布瑞病成年患者存在心脏受累。无左心室流出道梗阻的肥厚型心肌病是最常见的表型。本研究的目的是筛查无左心室流出道梗阻的肥厚型心肌病的成年患者。
共纳入 80 名年龄在 18 至 65 岁之间的患者，因各种临床指征转诊至三级中心进行经胸超声心动图检查。他们被调查是否存在无静息或动态左心室流出道梗阻的特发性左心室肥厚。检测血浆α-半乳糖苷酶 A 酶活性和α-半乳糖苷酶 GLA 基因突变。
平均年龄为 41.5±12.7 岁，66.25%的患者为男性。平均超声心动图参数如下：左心室射血分数 60.7±7.4%，室间隔厚度 18.2±4.4mm，左心室后壁厚度 13.5±2.1mm，左心室舒张末期直径 47.4±6.2mm，左心室收缩末期直径 27.8±6.5mm，左心室质量指数 171.05±48.5g/m²。在两名男性患者（筛查人群的 2.50%）中检测到与法布瑞病相关的半合子突变：NM_000169.2:c.334C>T(p.Arg112Cys)，NM_000169.2:c.902G>A(p.Arg301Gln)。
在不明原因左心室肥厚的高度选择患者人群中，应考虑法布瑞病的鉴别诊断。心脏病专家可能在疾病的筛查和诊断中发挥重要作用。
