左心室致密化不全

Left ventricular noncompaction

ORPHA:54260疾病

定义英文原文（暂无中文）

A rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.

别名

左室肌小梁形成过度

基本事实

遗传方式: 常染色体显性、常染色体隐性、线粒体遗传、X 连锁隐性
发病年龄: 各年龄段

相关基因 15

基因	名称	关联类型
ACTC1	actin alpha cardiac muscle 1	Major susceptibility factor in
PKP2	plakophilin 2	Disease-causing germline mutation(s) in
TNNT2	troponin T2, cardiac type	Disease-causing germline mutation(s) in
TPM1	tropomyosin 1	Disease-causing germline mutation(s) in
DTNA	dystrobrevin alpha	Candidate gene tested in
LDB3	LIM domain binding 3	Major susceptibility factor in
LMNA	lamin A/C	Major susceptibility factor in
MYBPC3	myosin binding protein C3	Candidate gene tested in
MYH7	myosin heavy chain 7	Disease-causing germline mutation(s) in
TBX20	T-box transcription factor 20	Disease-causing germline mutation(s) in
MIB1	MIB E3 ubiquitin protein ligase 1	Disease-causing germline mutation(s) (loss of function) in
PRDM16	PR/SET domain 16	Disease-causing germline mutation(s) in
MYH7B	myosin heavy chain 7B	Disease-causing germline mutation(s) in
MIB2	MIB E3 ubiquitin protein ligase 2	Major susceptibility factor in
PLEKHM2	pleckstrin homology and RUN domain containing M2	Major susceptibility factor in

外部标识与链接

Orphanet OMIM:601493 OMIM:601494 OMIM:604169 MONDO:0018901 GARD:10985ICD-10 I42.8ICD-11 BC44ClinicalTrials.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）