Arrhythmogenic Right Ventricular Dysplasia, Familial, 1; Arvd1

Description

Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity for which the diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. It is inherited in an autosomal dominant manner with reduced penetrance and is one of the major genetic causes of juvenile sudden death. When the dysplasia is extensive, it may represent the Uhl anomaly ('parchment right ventricle'). The presenting finding is usually recurrent, sustained ventricular tachycardia with left bundle branch block configuration. Basso et al. (2009) provided a detailed review of ARVD, including diagnosis, pathogenesis, treatment options, and genetics. Genetic Heterogeneity of Familial Arrhythmogenic Right Ventricular DysplasiaOther forms of ARVD include ARVD2 (OMIM ), caused by mutation in the RYR2 gene (OMIM ) on chromosome 1q42-q43; ARVD3 (OMIM ), on chromosome 14q12-q22; ARVD4 (OMIM ), on chromosome 2q32.1-q32.3; ARVD5 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ) on chromosome 3p23; ARVD6 (OMIM ), on chromosome 10p14-p12; ARVD8 (OMIM ), caused by mutation in the DSP gene (OMIM ) on chromosome 6p24; ARVD9 (OMIM ), caused by mutation in the PKP2 gene (OMIM ) on chromosome 12p11; ARVD10 (OMIM ), caused by mutation in the DSG2 (OMIM ) on chromosome 18q12.1; ARVD11 (OMIM ), caused by mutation in the DSC2 gene (OMIM ) on chromosome 18q12.1; ARVD12 (OMIM ), caused by mutation in the JUP gene (OMIM ) on chromosome 17q21; and ARVD13 (OMIM ), caused by mutation in the CTNNA3 gene (OMIM ) on chromosome 10q21.ARVD7 is a former designation for a form of myopathy and ARVD mapped to chromosome 10q22, which was later found to be a form of myofibrillar myopathy (MFM1 ) caused by mutation in the DES gene (OMIM ) on chromosome 2q35.Christensen et al. (2010) screened 65 ARVD probands for mutations in 5 desmosomal genes as well as the TGFB3 gene (OMIM ), and identified 19 different mutations in the desmosomal genes in 12 of the families, including 7 with more than 1 mutation. In 6 families, digenic mutation carriers were identified, with at least 1 of the mutations being absent in the control population. The authors stated that their findings partially supported a gene dosage effect, although phenotypic variation was large.Nitoiu et al. (2014) reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSP, PKP2, DSG2, DSC2, and JUP genes.

Clinical Features

Top most frequent phenotypes and symptoms related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 1; Arvd1

  • Fever
  • Cardiomyopathy
  • Edema
  • Myopathy
  • Congestive heart failure
  • Dilatation
  • Arrhythmia
  • Dyspnea
  • Dilated cardiomyopathy
  • Tachycardia

And another 25 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1; Arvd1 Is also known as arvc1, arrhythmogenic right ventricular cardiomyopathy 1.

Researches and researchers

Doctors, researchs, and experts related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 1; Arvd1 extracted from public data.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1; Arvd1 Experts map



Current Researchs and researchers

  • — Institution: Information not provided - DE



    • Institution/s:
      — Institution: Information not provided - DE
    • Research area/topic::

      ERA-CVD - VARIATION: New RNA therapies for the treatment of cardiomyopathies caused by LMNA mutations


  • MILANO — Pr Giulio POMPILIO

    Investigator of research project

    • Institution/s:
      — Centro Cardiologico Monzino
    • Research area/topic::

      Contribution of lipids and their oxidized metabolites on arrhythmogenic cardiomyopathy pathogenesis


Arrhythmogenic Right Ventricular Dysplasia, Familial, 1; Arvd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Loeys-Dietz Syndrome Type 5 (TGFB3).

By Center for Human Genetics, Inc (United States).

TGFB3
Specificity
100 %
Genes
100 %
Loeys-Dietz syndrome - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

TGFB2, TGFB3, TGFBR1, TGFBR2, SMAD3, SMAD4
Specificity
17 %
Genes
100 %
Loeys-Dietz syndrome - familial variant analysis.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

TGFB2, TGFB3, TGFBR1, TGFBR2, SMAD3, SMAD4
Specificity
17 %
Genes
100 %
Familial Aneurysm Panel.

By Collagen Diagnostic Laboratory University of Washington (United States).

BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, MFAP5, FBN1, FBN2, FOXE3, LOX, SMAD2, SMAD3, SMAD4, MAT2A, MYH11 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Marfan Syndrome and Loeys-Dietz Syndrome Panel.

By Collagen Diagnostic Laboratory University of Washington (United States).

TGFB2, TGFB3, TGFBR1, TGFBR2, FBN1, SMAD3
Specificity
17 %
Genes
100 %
Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Arrhythmogenic Right Ventricular Cardiomyopathy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR2, TGFB3, TTN, TMEM43, DSC2, DSG2, DSP, JUP, LMNA, MYBPC3, MYH7, PKP2
Specificity
9 %
Genes
100 %

You can get up to 126 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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