右侧心房异构
Right isomerism
定义 英文原文（暂无中文）
A form of heterotaxy characterized by both atrial appendages having the morphology of a right atrial appendage, often associated with two morphologically right lungs and/or bronchi, and asplenia. Associated cardiovascular defects are frequent, including dextrocardia or mesocardia, common atrioventricular junction (atrioventricular septal defect), ventricular hypoplasia in half of cases, anomalous ventriculo-arterial connections (malposition or transposition of the great arteries), anomalous systemic and pulmonary venous connections (total anomalous pulmonary venous return), absent coronary sinus, and frequent subpulmonary stenosis. Cardiac arrhythmias are frequently observed. Typical extracardiac anomalies are midline liver, intestinal malrotation.
别名
右心耳异构
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 新生儿期
- 患病率
- 1-5 / 10 000（France）
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| GDF1 | growth differentiation factor 1 | Disease-causing germline mutation(s) in |
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）