家族性短QT综合征
Congenital short QT syndrome
ORPHA:51083疾病
定义 英文原文（暂无中文）
A rare, genetic cardiac rhythm disease characterized by a short QTc interval on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia.
别名
SQTS
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 各年龄段
相关基因 5
| 基因 | 名称 | 关联类型 |
|---|---|---|
| KCNH2 | potassium voltage-gated channel subfamily H member 2 | Disease-causing germline mutation(s) (gain of function) in |
| KCNJ2 | potassium inwardly rectifying channel subfamily J member 2 | Disease-causing germline mutation(s) (gain of function) in |
| KCNQ1 | potassium voltage-gated channel subfamily Q member 1 | Disease-causing germline mutation(s) (gain of function) in |
| SLC4A3 | solute carrier family 4 member 3 | Disease-causing germline mutation(s) (loss of function) in |
| CACNA2D1 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Candidate gene tested in |
临床表型 9
必现 100%1
- QT间期缩短 HP:0012232
极常见 99–80%1
- 心动过缓 HP:0001662
常见 79–30%2
- 心房纤颤 HP:0005110
- 心悸 HP:0001962
偶见 29–5%5
- 房室传导阻滞 HP:0001678
- 心脏性猝死 HP:0001645
- 晕厥 HP:0001279
- 室性心律失常 HP:0004308
- 心室纤颤 HP:0001663
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）