家族性心房颤动
Hereditary atrial fibrillation
ORPHA:334疾病
定义 英文原文（暂无中文）
Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 成年期、老年期
相关基因 24
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ABCC9 | ATP binding cassette subfamily C member 9 | Candidate gene tested in |
| PITX2 | paired like homeodomain 2 | Disease-causing germline mutation(s) (loss of function) 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) (gain of function) in |
| TTN | titin | Major susceptibility factor in |
| GATA4 | GATA binding protein 4 | Disease-causing germline mutation(s) (loss of function) in |
| KCNE1 | potassium voltage-gated channel subfamily E regulatory subunit 1 | Candidate gene tested in |
| KCNE2 | potassium voltage-gated channel subfamily E regulatory subunit 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 |
| NKX2-5 | NK2 homeobox 5 | Disease-causing germline mutation(s) (loss of function) in |
| GJA5 | gap junction protein alpha 5 | Disease-causing germline mutation(s) in |
| NKX2-6 | NK2 homeobox 6 | Major susceptibility factor in |
| SCN4B | sodium voltage-gated channel beta subunit 4 | Disease-causing germline mutation(s) in |
| KCNA5 | potassium voltage-gated channel subfamily A member 5 | Disease-causing germline mutation(s) (loss of function) in |
| NUP155 | nucleoporin 155 | Disease-causing germline mutation(s) (loss of function) in |
| NPPA | natriuretic peptide A | Disease-causing germline mutation(s) in |
| SCN3B | sodium voltage-gated channel beta subunit 3 | Disease-causing germline mutation(s) (loss of function) in |
| KCNJ5 | potassium inwardly rectifying channel subfamily J member 5 | Disease-causing germline mutation(s) in |
| GATA6 | GATA binding protein 6 | Disease-causing germline mutation(s) (loss of function) in |
| GATA5 | GATA binding protein 5 | Disease-causing germline mutation(s) (loss of function) in |
| SCN2B | sodium voltage-gated channel beta subunit 2 | Disease-causing germline mutation(s) (loss of function) in |
| MYL4 | myosin light chain 4 | Disease-causing germline mutation(s) in |
| KCNJ3 | potassium inwardly rectifying channel subfamily J member 3 | Disease-causing germline mutation(s) in |
临床表型 11
常见 79–30%8
- 心房纤颤 HP:0005110
- 胸痛 HP:0100749
- 呼吸困难 HP:0002094
- 运动不耐受 HP:0003546
- 疲乏 HP:0012378
- 心悸 HP:0001962
- 晕厥 HP:0001279
- 眩晕 HP:0002321
偶见 29–5%3
- 心肌梗死 HP:0001658
- 血栓栓塞性脑卒中 HP:0001727
- 血栓栓塞症 HP:0001907
外部标识与链接
OrphanetOMIM:607554OMIM:608583OMIM:608988MONDO:0018054GARD:9740ICD-10 I48.9ICD-11 BC65.YClinicalTrials.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）