Holt-Oram syndrome complicated with double outlet right ventricle and literature review
Ji Wei
Mo Ying
Qin Guangning
Luo Yi
Zheng Chunhua
Bao Min
Abstract：Objective To analyze clinical and genetic features of Holt-Oram syndrome(HOS) complicated with double outlet right ventricle(DORV).Methods Clinical characteristics,radiological information,discoveries in genetics,diagnosis and treatment of 1 case of HOS with DORV were analyzed.Results The patient had cardiac murmur after birth and had exertional dyspnea for 5 years,diagnosed in August 17,2015;plain radiography showed bone deformities in both upper limbs;echocardiography showed DORV with subaortic ventricular septal defect,pulmonary artery hypertension and cardiac insufficiency;electrocardiography showed sinus bradycardia and Ⅰ degree atrioventricular block.The patient was treated with diuretics and cardiotonics.No cardiac deterioration occurred until June 2016.Conclusions Most patients with HOS have cardiac malformations,but DORV is uncommon.Clinical examinations combined with TBX5 gene detection contribute to the diagnosis of DORV.
Keywords：Holt-Oram syndromeDouble outlet right ventricleTBX5 gene
Publication Date：2017-01-01
Online Publishing Date：2026-09-14(First online date of this platform, not the publication date of the document)
Pages：5( 846-850 )