疑似扩张型心肌病的遗传性出血性毛细血管扩张症

目的探讨遗传性出血性毛细血管扩张（hereditary hemorrhagic telangiectasis，HHT）的临床特点，以提高诊断率。方法回顾分析1例疑似扩张型心肌病的HHT临床资料。结果本例因阵发性胸闷、气短5年，加重9d入院。当地医院曾诊断为心力衰竭予利尿剂治疗，症状可暂时缓解。患者有长期自发性鼻出血史及贫血史，皮肤、黏膜有毛细血管扩张表现，结合实验室、心电图、超声及肺动脉血管造影检查结果，确诊为HHT并心功能不全。予相应治疗后病情明显好转出院。结论对临床表现类似扩张型心肌病，且有慢性出血、皮肤黏膜毛细血管扩张及内脏损害者，应警惕HHT可能，及时行相关检查。

Hereditary Hemorrhagic Telangiectasis in the Similitude of Dilated Cardiomyopathy

Objective To explore the clinical characteristics of hereditary hemorrhagic telangiectasis(HHT) in order to improve the diagnosis rate.Methods Retrospective analysis of one case of HHT suspected as dilated cardiomyopathy was made.Results The patient was admitted for convulsivum dyspnea,short breath for five years and aggravation for nine days.The patient was diagnosed as having heart failure in a local hospital,and was treated with diuretics and the symptom was temporarily relieved.The patient had a long history of spontaneous rhinorrhagia and anaemia,and manifested telangiectasis in skin and mucous membrane.The patient was diagnosed as having HHT combined with cardiac dysfunction concomitantly by the results of laboratory examination,ECG,UCG and CTA.She was discharged after proper treatment.Conclusion Clinicians should caution against HHT in patients with clinical manifestations of suspected dilated cardiomyopathy,accompanied with chronic hemorrhage,telangiectasis in skin and mucous membrane and internal organ injuries.