肌联蛋白基因突变相关家族性扩张型心肌病1例

A case of familial dilated cardiomyopathy associated with a titin gene mutation

  • 摘要: 本文报道一例家族性扩张型心肌病患者。患者为男性,60岁,以胸闷、气促为主要表现,超声心动图显示左心室明显扩大及收缩功能显著降低,并伴重度二尖瓣反流和肺动脉高压;冠状动脉造影未见明显狭窄,心脏磁共振成像提示非缺血性心肌损伤。进一步行基因检测发现,患者及其一名女儿携带肌联蛋白(TTN)基因杂合移码突变c.103574_103575del(p.Leu34525ArgfsTer16),该变异尚未见相关报道。结合家族史,诊断为家族性扩张型心肌病。该病例提示,TTN基因突变是家族性扩张型心肌病的重要遗传基础,对不明原因心力衰竭患者开展基因检测有助于明确病因,并为家系成员筛查和遗传咨询提供依据。

     

    Abstract: This article reports a case of familial dilated cardiomyopathy (FDCM). A 60-year-old male presented with chest tightness and dyspnea. Echocardiography revealed marked left ventricular dilatation with severely reduced systolic function, accompanied by severe mitral regurgitation and pulmonary hypertension. Coronary angiography showed no significant stenosis, and cardiac magnetic resonance imaging indicated non-ischemic myocardial injury. Genetic testing identified a heterozygous frameshift mutation in the titin (TTN) gene, c.103574_103575del (p.Leu34525ArgfsTer16), in the patient and one of his daughters; this variant has not been previously reported. Combined with the family history, a diagnosis of familial dilated cardiomyopathy was established. This case suggests that TTN gene mutations are important genetic basis of FDCM, and genetic testing in patients with unexplained heart failure may help clarify the etiology and facilitate family screening and genetic counseling.

     

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