肺动脉缺如
Absence of the pulmonary artery
定义 英文原文（暂无中文）
A rare vascular anomaly characterized by congenital absence of the right or left pulmonary artery, usually ending within 2 cm of its expected origin from the pulmonary trunk. Patients often also have other cardiovascular abnormalities and respective symptoms and are then typically diagnosed in infancy or childhood, while isolated cases generally present with a mild clinical course and may go undiagnosed until adulthood. Presenting clinical features in isolated cases include hemoptysis, exertional dyspnea, and recurrent respiratory infections. The condition is typically accompanied by marked changes of lung tissue and may, if unrecognized, result in massive hemoptysis and pulmonary hypertension.
别名
单侧肺动脉缺如
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 1 000 000（Europe）
临床表型 37
常见 79–30%8
- 异常心电图 HP:0003115
- 心脏形态异常 HP:0001627
- 肺胸部影像学异常 HP:0031983
- 运动不耐受 HP:0003546
- 低碳酸血症 HP:0012417
- 肺动脉高压 HP:0002092
- 反复肺炎 HP:0006532
- 反复呼吸道感染 HP:0002205
偶见 29–5%29
- 心脏间隔异常 HP:0001671
- 冠状动脉形态异常 HP:0006704
- 单侧横膈形态异常 HP:0040045
- 下腔静脉畸形 HP:0025576
- 心房纤颤 HP:0005110
- 心房扑动 HP:0004749
- 房间隔缺损 HP:0001631
- 支气管扩张 HP:0002110
- 心脏扩大 HP:0001640
- 胸痛 HP:0100749
- 主动脉缩窄 HP:0001680
- 充血性心力衰竭 HP:0001635
- 紫绀 HP:0000961
- 呼吸困难 HP:0002094
- 生长延迟 HP:0001510
- 咯血 HP:0002105
- 干咳 HP:0031246
- 端坐式呼吸 HP:0012764
- 动脉导管未闭 HP:0001643
- 卵圆孔未闭 HP:0001655
- 下肢水肿 HP:0010741
- 肺水肿 HP:0100598
- 肺发育不良 HP:0002089
- 左心室射血分数降低 HP:0012664
- 右位主动脉弓 HP:0012020
- 心脏收缩期杂音 HP:0031664
- 心动过速 HP:0001649
- 法洛四联症 HP:0001636
- 动脉干 HP:0001660
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）