Background 

Hereditary transthyretin amyloidosis is a systemic infiltrative disease, caused by a mutation in the transthyretin gene. p.Glu89Gln is the most common mutation in the Balkan countries.

Methods 

We evaluated the clinical manifestations, cardiac involvement, morbidity and mortality in 78 patients with p.Glu89Gln mutation, verified through a DNA analysis. Clinical assessment, electrocardiogram and echocardiography were performed at the time of diagnosis. The patients have been followed for 30 months.

Results 

All included patients were Caucasian, 39 (50%) – men, with median age at diagnosis of 56 years (42–73), median age at onset -- 53 years (35–69), starting significantly earlier in men (4.36, P = 0.004). Cardiac and neurological involvement was found in 74 (95%) patients. Pathological ECG was present in 65 (84%) patients, infarct pattern in 43 (56%), low voltage in 24 (31%). Echocardiography revealed an infiltrative cardiomyopathy with restrictive filling in 31 (40%) and ejection fraction less than 50% in 20 (27%) patients. Twenty-two patients (28%) died: 14 (64%) because of advanced heart failure, 6 (27%) died suddenly, 2 (9%) from an ischemic stroke. The median age at death was 58.5 years (52–72). No statistically significant sex difference in survival was observed; a significant difference in survival was found for the New York Heart Association class, familial amyloidotic polyneuropathy stage, ejection fraction, filling pattern and tafamidis treatment.

Conclusion 

Cardiac involvement is common and has significant prognostic implications in the evaluated patients with p.Glu89Gln mutation. Heart failure and rhythm disturbances are the main causes of death. An earlier identification of the disease is crucial to improve prognosis.

中文翻译：

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由于p.Glu89Gln突变，遗传性甲状腺素转运蛋白淀粉样变性病的心脏受累，发病率和死亡率。

背景 

遗传性运甲状腺素蛋白淀粉样变性是一种全身性浸润性疾病，由运甲状腺素蛋白基因突变引起。p.Glu89Gln是巴尔干国家中最常见的突变。

方法 

我们评估了78例p的临床表现，心脏累及，发病率和死亡率。Glu89Gln突变，通过DNA分析验证。诊断时进行临床评估，心电图和超声心动图检查。对患者进行了30个月的随访。

结果 

所有纳入的患者均为白种人，39岁（50％）–男性，诊断中位年龄为56岁（42–73），发病中位年龄为– 53岁（35–69），男性明显更早开始（4.36，P= 0.004）。74（95％）位患者发现了心脏和神经系统受累。65例（84％）患者存在病理性ECG，43例（56％）存在梗死模式，24例（31％）存在低电压。超声心动图显示浸润性心肌病，其中31例（40％）出现限制性充盈，而20例（27％）的射血分数低于50％。22名患者（28％）死亡：14名（64％）因晚期心力衰竭死亡，6名（27％）突然死亡，2名（9％）因缺血性中风死亡。死亡的中位年龄为58.5岁（52-72）。没有观察到生存中有统计学意义的性别差异；纽约心脏协会分类，家族性淀粉样变性多发性神经病分期，射血分数，充盈方式和他法米地治疗的生存率存在显着差异。

结论 

心脏受累是常见的，对评估为p的患者具有重要的预后意义。Glu89Gln突变。心力衰竭和节律紊乱是死亡的主要原因。疾病的早​​期发现对于改善预后至关重要。