先天性主动脉瓣狭窄
Congenital aortic valve stenosis
ORPHA:3093疾病
定义 英文原文（暂无中文）
A rare aortic malformation of variable severity and clinical presentation. Clinical presentations range from a neonatal severe presentation often associated with sudden cardiac death, to a slowly progressive stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced exacerbations. Echocardiography reveals atresia or dysplasia of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy.
基本事实
- 发病年龄
- 婴儿期、新生儿期
临床表型 17
必现 100%1
- 主动脉瓣狭窄 HP:0001650
极常见 99–80%2
- 劳力性呼吸困难 HP:0002875
- 心脏杂音 HP:0030148
常见 79–30%6
- T波异常 HP:0005135
- 主动脉瓣闭锁 HP:0010883
- 主动脉瓣钙化 HP:0004380
- 主动脉瓣发育不良 HP:0005176
- QRS高电压 HP:0025075
- 左心室肥厚 HP:0001712
偶见 29–5%6
- 左心室功能异常 HP:0005162
- 脉压异常 HP:0030850
- 心绞痛 HP:0001681
- 心内膜弹力纤维增生症 HP:0001706
- 心内膜炎 HP:0100584
- 左心室射血分数降低 HP:0012664
罕见 <4–1%2
- 心脏性猝死 HP:0001645
- 胸主动脉瘤 HP:0012727
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）