Antonelli D, Antonelli J, Rosenfeld T
Department of Cardiology, Central Emek Hospital, Afula, Israel.
Cardiology. 1990;77(1):62-5. doi: 10.1159/000174582.
A case of a week old female baby, admitted because of apathy, hypothermia, dyspnea, jaundice and cyanosis is described. She had the characteristic phenotype of Turner's syndrome with normal karyotype. Signs of severe heart failure were present. Therapy with diuretics, digoxin, dopamine and mechanical ventilation were unsuccessful, and the patient died several hours after her admission. The anatomopathological examination revealed the presence of hypoplastic left heart syndrome with mitral atresia and aortic atresia, atrial septal defect, double outlet right ventricle, and a patent ductus arteriosus.
描述了一例一周大的女婴，因冷漠、体温过低、呼吸困难、黄疸和发绀入院。她具有特纳综合征的典型表型，核型正常。存在严重心力衰竭的体征。使用利尿剂、地高辛、多巴胺和机械通气治疗均未成功，患者入院后数小时死亡。解剖病理学检查发现存在左心发育不全综合征，伴有二尖瓣闭锁和主动脉闭锁、房间隔缺损、右心室双出口以及动脉导管未闭。
