家族性孤立型扩张型心肌病

Familial isolated dilated cardiomyopathy

ORPHA:154疾病

定义英文原文（暂无中文）

A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present.

别名

家族性或特发性扩张型心肌病

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
患病率: 1-9 / 100 000（Europe）

相关基因 55

基因	名称	关联类型
ABCC9	ATP binding cassette subfamily C member 9	Disease-causing germline mutation(s) in
ACTC1	actin alpha cardiac muscle 1	Disease-causing germline mutation(s) in
PSEN1	presenilin 1	Disease-causing germline mutation(s) in
PSEN2	presenilin 2	Disease-causing germline mutation(s) in
SCN5A	sodium voltage-gated channel alpha subunit 5	Disease-causing germline mutation(s) (gain of function) in
SDHA	succinate dehydrogenase complex flavoprotein subunit A	Disease-causing germline mutation(s) in
SGCD	sarcoglycan delta	Disease-causing germline mutation(s) in
TAFAZZIN	tafazzin, phospholipid-lysophospholipid transacylase	Disease-causing germline mutation(s) in
TCAP	titin-cap	Disease-causing germline mutation(s) in
TNNI3	troponin I3, cardiac type	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
TTN	titin	Disease-causing germline mutation(s) in
CRYAB	crystallin alpha B	Disease-causing germline mutation(s) in
CSRP3	cysteine and glycine rich protein 3	Disease-causing germline mutation(s) in
DES	desmin	Disease-causing germline mutation(s) in
DMD	dystrophin	Disease-causing germline mutation(s) in
DSG2	desmoglein 2	Disease-causing germline mutation(s) in
DSP	desmoplakin	Disease-causing germline mutation(s) in
FKTN	fukutin	Disease-causing germline mutation(s) in
LDB3	LIM domain binding 3	Disease-causing germline mutation(s) in
LMNA	lamin A/C	Disease-causing germline mutation(s) in
DOLK	dolichol kinase	Disease-causing germline mutation(s) (loss of function) in
MYBPC3	myosin binding protein C3	Disease-causing germline mutation(s) in
MYH6	myosin heavy chain 6	Disease-causing germline mutation(s) in
MYH7	myosin heavy chain 7	Disease-causing germline mutation(s) in
RAF1	Raf-1 proto-oncogene, serine/threonine kinase	Disease-causing germline mutation(s) in
TMPO	thymopoietin	Disease-causing germline mutation(s) in
TNNC1	troponin C1, slow skeletal and cardiac type	Disease-causing germline mutation(s) in
VCL	vinculin	Disease-causing germline mutation(s) in
ACTN2	actinin alpha 2	Disease-causing germline mutation(s) in
FHL2	four and a half LIM domains 2	Disease-causing germline mutation(s) in
PLN	phospholamban	Disease-causing germline mutation(s) in
BAG3	BAG cochaperone 3	Disease-causing germline mutation(s) in
RBM20	RNA binding motif protein 20	Disease-causing germline mutation(s) in
NEXN	nexilin F-actin binding protein	Disease-causing germline mutation(s) (loss of function) in
JPH2	junctophilin 2	Disease-causing germline mutation(s) in
TXNRD2	thioredoxin reductase 2	Disease-causing germline mutation(s) (loss of function) in
GATAD1	GATA zinc finger domain containing 1	Disease-causing germline mutation(s) in
MYPN	myopalladin	Disease-causing germline mutation(s) in

临床表型 13

极常见 99–80%2

扩张型心肌病 HP:0001644
左心室收缩功能障碍 HP:0025169

常见 79–30%6

心律失常 HP:0011675
充血性心力衰竭 HP:0001635
水肿 HP:0000969
劳力性呼吸困难 HP:0002875
疲乏 HP:0012378
端坐式呼吸 HP:0012764

偶见 29–5%5

肌电图异常 HP:0003457
脂肪萎缩 HP:0100578
肌病 HP:0003198
感音神经性听力受损 HP:0000407
血栓栓塞性脑卒中 HP:0001727

外部标识与链接

Orphanet OMIM:115200 OMIM:302045 OMIM:600884 MONDO:0015470 MONDO:15470 MONDO:700335ICD-10 I42.0ICD-11 BC43.00ClinicalTrials.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）