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先天性三尖瓣狭窄

Congenital tricuspid stenosis

ORPHA:95459疾病

定义 英文原文(暂无中文)

A rare congenital tricuspid malformation characterized by narrowing of the tricuspid valve orifice due to congenital valve anomalies, such as incompletely developed leaflets, shortened and malformed chordae tendineae, small annulus, and/or abnormal number and size of papillary muscles, resulting in right ventricular inflow obstruction. Clinical presentation depends on the degree of stenosis, as well as the presence or absence of additional cardiac anomalies, and includes easy fatigability, swelling of the lower limbs, and hepatomegaly, among others.

基本事实

发病年龄
婴儿期、新生儿期

临床表型 9

必现 100%1

  • 三尖瓣狭窄 HP:0010446

极常见 99–80%1

  • 心脏杂音 HP:0030148

常见 79–30%1

  • 三尖瓣反流 HP:0005180

偶见 29–5%3

  • 充血性心力衰竭 HP:0001635
  • 低血压 HP:0002615
  • 肺动脉高压 HP:0002092

排除 0%3

  • 细菌性心内膜炎 HP:0006689
  • 类癌 HP:0100570
  • 类风湿关节炎 HP:0001370

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)