Brugada综合征
Brugada syndrome
ORPHA:130疾病
定义 英文原文（暂无中文）
A cardiac disorder characterized on electrocardiogram (ECG) by ST segment elevation with a coved aspect on the right precordial leads, and a clinical susceptibility to ventricular tachyarrhythmias and sudden death occurring in the absence of overt myocardial abnormalities.
别名
特发性心室颤动Brugada型
基本事实
- 遗传方式
- 常染色体显性、不适用
- 发病年龄
- 成年期、儿童期
- 患病率
- 1-5 / 10 000（Europe）
相关基因 22
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CACNA2D1 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Candidate gene tested in |
| SLMAP | sarcolemma associated protein | Candidate gene tested in |
| ABCC9 | ATP binding cassette subfamily C member 9 | Candidate gene tested in |
| PKP2 | plakophilin 2 | Candidate gene tested in |
| SCN1B | sodium voltage-gated channel beta subunit 1 | Candidate gene tested in |
| SCN5A | sodium voltage-gated channel alpha subunit 5 | Disease-causing germline mutation(s) in |
| SCNN1A | sodium channel epithelial 1 subunit alpha | Candidate gene tested in |
| CACNB2 | calcium voltage-gated channel auxiliary subunit beta 2 | Candidate gene tested in |
| HCN4 | hyperpolarization activated cyclic nucleotide gated potassium channel 4 | Candidate gene tested in |
| KCNE5 | potassium voltage-gated channel subfamily E regulatory subunit 5 | Candidate gene tested in |
| KCNE3 | potassium voltage-gated channel subfamily E regulatory subunit 3 | Candidate gene tested in |
| AKAP9 | A-kinase anchoring protein 9 | Candidate gene tested in |
| TRPM4 | transient receptor potential cation channel subfamily M member 4 | Candidate gene tested in |
| GPD1L | glycerol-3-phosphate dehydrogenase 1 like | Candidate gene tested in |
| SCN3B | sodium voltage-gated channel beta subunit 3 | Candidate gene tested in |
| SCN2B | sodium voltage-gated channel beta subunit 2 | Candidate gene tested in |
| KCNJ8 | potassium inwardly rectifying channel subfamily J member 8 | Candidate gene tested in |
| CACNA1C | calcium voltage-gated channel subunit alpha1 C | Candidate gene tested in |
| KCND3 | potassium voltage-gated channel subfamily D member 3 | Candidate gene tested in |
| SCN10A | sodium voltage-gated channel alpha subunit 10 | Candidate gene tested in |
| SEMA3A | semaphorin 3A | Candidate gene tested in |
| RANGRF | RAN guanine nucleotide release factor | Candidate gene tested in |
临床表型 12
常见 79–30%4
- 心脏骤停 HP:0001695
- 右束支传导阻滞 HP:0011712
- ST段抬高 HP:0012251
- 晕厥 HP:0001279
偶见 29–5%6
- 一度房室传导阻滞 HP:0011705
- 阵发性室性心动过速 HP:0004751
- 病窦综合征 HP:0011704
- 室上性心动过速 HP:0004755
- 心动过速 HP:0001649
- 心室纤颤 HP:0001663
罕见 <4–1%2
- 三支传导阻滞 HP:0011715
- 室性心律失常 HP:0004308
外部标识与链接
OrphanetOMIM:601144OMIM:611777OMIM:611875MONDO:0015263GARD:1030ICD-10 I49.8ICD-11 BC65.1ClinicalTrials.gov 检索
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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）