ORPHA:217656

Inherited isolated arrhythmogenic cardiomyopathy

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: No data available
Status: active

Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Inherited isolated arrhythmogenic cardiomyopathy
fr	Cardiomyopathie arythmogène héréditaire isolée
de	Hereditäre isolierte arrhythmogene Kardiomyopathie	Familiäre isolierte ACM
es	Miocardiopatía arritmogénica aislada hereditaria	Cardiomiopatía arritmogénica aislada hereditaria
it	Cardiomiopatia aritmogena isolata ereditaria	ACM · Displasia del ventricolo destro aritmogena isolata familiare
nl	Erfelijke geïsoleerde aritmogene cardiomyopathie
pt	Cardiomiopatia arritmogénica isolada hereditária
pl	Rodzinna izolowana arytomogenna dysplazja prawej komory	Rodzinna izolowana ARVC · Rodzinna izolowana ARVD · Rodzinna izolowana arytomogenna dysplazja komorowa · Rodzinna izolowana arytomogenna kardiomiopatia komorowa · Rodzinna izolowana arytomogenna kardiomiopatia prawej komory
cs	Familiární izolovaná arytmogenní dysplázie pravé komory	Familiární izolovaná ARVC · Familiární izolovaná arytmogenní kardiomyopatie pravé komory · Familiární izolovaná arytmogenní komorová kardiomyopatie · Familiární izolovaná arytmogenní komorová dysplázie
uk	Спадкова ізольована аритмогенна кардіоміопатія	ACM · Сімейна ізольована аритмогенна дисплазія правого шлуночка
zh	家族性孤立性心律失常性右心室发育不良	家族性孤立性心律失常性右室心肌病
tr	Ailesel izole aritmojenik sağ ventrikül displazisi	Ailesel izole ARVC · Ailesel izole ARVD · Ailesel izole aritmojenik ventriküler displazi · Ailesel izole aritmojenik ventriküler kardiyomiyopati · Ailesel izole aritmojenik sağ ventriküler kardiyomiyopati

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	107970	E		validated
OMIM	602086	BTNT		validated
OMIM	602087	BTNT		validated
OMIM	604400	BTNT		validated
OMIM	604401	BTNT		validated
OMIM	607450	BTNT		validated
OMIM	609040	BTNT		validated
OMIM	610193	BTNT		validated
OMIM	610476	BTNT		validated
OMIM	611528	BTNT		validated
OMIM	615616	BTNT		validated
ICD-10	I42.8	NTBT	attributed	validated
ICD-11	BC43.6	NTBT	index	validated
MONDO	0016342	E		validated
UMLS	C4274968	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97929Rare cardiac disease

Parents in the classifications (2):

ORPHA:247Inherited arrhythmogenic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
ORPHA:300755Laminopathy with striated muscle involvement
rare genetic diseases

Children (3):

Genes

0 direct · 37 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TMEM43	ORPHA:293888Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:28472	ENSG00000170876	612048	3p25.1	transmembrane protein 43	20301310[PMID]
TMEM43	ORPHA:293899Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:28472	ENSG00000170876	612048	3p25.1	transmembrane protein 43	20301310[PMID]
TMEM43	ORPHA:293910Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:28472	ENSG00000170876	612048	3p25.1	transmembrane protein 43	20301310[PMID]
TTN	ORPHA:293888Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12403	ENSG00000155657	188840	2q31.2	titin	21810661[PMID]
TTN	ORPHA:293899Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12403	ENSG00000155657	188840	2q31.2	titin	21810661[PMID]
CDH2	ORPHA:293910Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Disease-causing germline mutation(s) in	Assessed	HGNC:1759	ENSG00000170558	114020	18q12.1	cadherin 2	28280076[PMID]
CTNNA3	ORPHA:293888Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Disease-causing germline mutation(s) in	Assessed	HGNC:2511	ENSG00000183230	607667	10q21.3	catenin alpha 3	23136403[PMID]
CTNNA3	ORPHA:293899Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Disease-causing germline mutation(s) in	Assessed	HGNC:2511	ENSG00000183230	607667	10q21.3	catenin alpha 3	23136403[PMID]
CTNNA3	ORPHA:293910Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Disease-causing germline mutation(s) in	Assessed	HGNC:2511	ENSG00000183230	607667	10q21.3	catenin alpha 3	23136403[PMID]
DSC2	ORPHA:293888Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Disease-causing germline mutation(s) in	Assessed	HGNC:3036	ENSG00000134755	125645	18q12.1	desmocollin 2	20301310[PMID]
DSC2	ORPHA:293899Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Disease-causing germline mutation(s) in	Assessed	HGNC:3036	ENSG00000134755	125645	18q12.1	desmocollin 2	20301310[PMID]
DSC2	ORPHA:293910Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Disease-causing germline mutation(s) in	Assessed	HGNC:3036	ENSG00000134755	125645	18q12.1	desmocollin 2	20301310[PMID]
DSG2	ORPHA:293888Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Disease-causing germline mutation(s) in	Assessed	HGNC:3049	ENSG00000046604	125671	18q12.1	desmoglein 2	20301310[PMID]
DSG2	ORPHA:293899Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Disease-causing germline mutation(s) in	Assessed	HGNC:3049	ENSG00000046604	125671	18q12.1	desmoglein 2	20301310[PMID]
DSG2	ORPHA:293910Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Disease-causing germline mutation(s) in	Assessed	HGNC:3049	ENSG00000046604	125671	18q12.1	desmoglein 2	20301310[PMID]
DSP	ORPHA:293888Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Disease-causing germline mutation(s) in	Assessed	HGNC:3052	ENSG00000096696	125647	6p24.3	desmoplakin	20301310[PMID]
DSP	ORPHA:293899Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Disease-causing germline mutation(s) in	Assessed	HGNC:3052	ENSG00000096696	125647	6p24.3	desmoplakin	20301310[PMID]
DSP	ORPHA:293910Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Disease-causing germline mutation(s) in	Assessed	HGNC:3052	ENSG00000096696	125647	6p24.3	desmoplakin	20301310[PMID]
FLNC	ORPHA:293910Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Disease-causing germline mutation(s) in	Assessed	HGNC:3756	ENSG00000128591	102565	7q32.1	filamin C	31924696[PMID]
JUP	ORPHA:293888Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Disease-causing germline mutation(s) in	Assessed	HGNC:6207	ENSG00000173801	173325	17q21.2	junction plakoglobin	20301310[PMID]
JUP	ORPHA:293899Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Disease-causing germline mutation(s) in	Assessed	HGNC:6207	ENSG00000173801	173325	17q21.2	junction plakoglobin	20301310[PMID]
JUP	ORPHA:293910Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Disease-causing germline mutation(s) in	Assessed	HGNC:6207	ENSG00000173801	173325	17q21.2	junction plakoglobin	20301310[PMID]
LDB3	ORPHA:293888Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Disease-causing germline mutation(s) in	Assessed	HGNC:15710	ENSG00000122367	605906	10q23.2	LIM domain binding 3	25041374[PMID]
LDB3	ORPHA:293899Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Disease-causing germline mutation(s) in	Assessed	HGNC:15710	ENSG00000122367	605906	10q23.2	LIM domain binding 3	25041374[PMID]
LDB3	ORPHA:293910Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Disease-causing germline mutation(s) in	Assessed	HGNC:15710	ENSG00000122367	605906	10q23.2	LIM domain binding 3	25041374[PMID]
LMNA	ORPHA:293888Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Disease-causing germline mutation(s) in	Not yet assessed	HGNC:6636	ENSG00000160789	150330	1q22	lamin A/C	23736219[PMID]_22199124[PMID]
LMNA	ORPHA:293899Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Disease-causing germline mutation(s) in	Not yet assessed	HGNC:6636	ENSG00000160789	150330	1q22	lamin A/C	23736219[PMID]_22199124[PMID]
LMNA	ORPHA:293910Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Disease-causing germline mutation(s) in	Not yet assessed	HGNC:6636	ENSG00000160789	150330	1q22	lamin A/C	23736219[PMID]_22199124[PMID]
PKP2	ORPHA:293888Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Disease-causing germline mutation(s) in	Assessed	HGNC:9024	ENSG00000057294	602861	12p11.21	plakophilin 2	20301310[PMID]
PKP2	ORPHA:293899Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Disease-causing germline mutation(s) in	Assessed	HGNC:9024	ENSG00000057294	602861	12p11.21	plakophilin 2	20301310[PMID]
PKP2	ORPHA:293910Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Disease-causing germline mutation(s) in	Assessed	HGNC:9024	ENSG00000057294	602861	12p11.21	plakophilin 2	20301310[PMID]
PLN	ORPHA:293910Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Disease-causing germline mutation(s) in	Assessed	HGNC:9080	ENSG00000198523	172405	6q22.31	phospholamban	25820315[PMID]
TAX1BP3	ORPHA:293910Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Disease-causing germline mutation(s) in	Assessed	HGNC:30684			17p13.2	Tax1 binding protein 3	39963794[PMID]
TGFB3	ORPHA:293888Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Disease-causing germline mutation(s) in	Assessed	HGNC:11769	ENSG00000119699	190230	14q24.3	transforming growth factor beta 3	20301310[PMID]
TGFB3	ORPHA:293899Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Disease-causing germline mutation(s) in	Assessed	HGNC:11769	ENSG00000119699	190230	14q24.3	transforming growth factor beta 3	20301310[PMID]
TGFB3	ORPHA:293910Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Disease-causing germline mutation(s) in	Assessed	HGNC:11769	ENSG00000119699	190230	14q24.3	transforming growth factor beta 3	20301310[PMID]
TTN	ORPHA:293910Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Disease-causing germline mutation(s) in	Assessed	HGNC:12403	ENSG00000155657	188840	2q31.2	titin	21810661[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/217656
This record as JSON: /data/d/217656.json