主动脉瓣下固定性狭窄
Fixed subaortic stenosis
定义 英文原文（暂无中文）
Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.
基本事实
- 遗传方式
- No data available
- 发病年龄
- 儿童期
临床表型 28
常见 79–30%11
- 心脏形态异常 HP:0001627
- 主动脉瓣反流 HP:0001659
- 充血性心力衰竭 HP:0001635
- 舒张性心杂音 HP:0031668
- 呼吸困难 HP:0002094
- 劳力性呼吸困难 HP:0002875
- 左心室肥厚 HP:0001712
- 左心室流出道梗阻 HP:0032092
- 动脉导管未闭 HP:0001643
- 心脏收缩期杂音 HP:0031664
- 室间隔缺损 HP:0001629
偶见 29–5%17
- 心脏间隔异常 HP:0001671
- 心绞痛 HP:0001681
- 生主动脉动脉瘤 HP:0004970
- 房室管缺损 HP:0006695
- 细菌性心内膜炎 HP:0006689
- 二叶主动脉瓣 HP:0001647
- 心脏扩大 HP:0001640
- 胸痛 HP:0100749
- 主动脉缩窄 HP:0001680
- 二尖瓣反流 HP:0001653
- 端坐式呼吸 HP:0012764
- 心悸 HP:0001962
- 阵发性房颤 HP:0004757
- 活动后症状加重 HP:0030973
- 肺静脉高压 HP:0030950
- 肺动脉瓣狭窄 HP:0001642
- 晕厥 HP:0001279
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）