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.
Genes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 1; Arvd1
- TGFB3
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.
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
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— Institution: Information not provided - DE
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— Institution: Information not provided - DE -
Research area/topic::
ERA-CVD - VARIATION: New RNA therapies for the treatment of cardiomyopathies caused by LMNA mutations
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Institution/s:
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MILANO — Pr Giulio POMPILIO
Investigator of research project
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Institution/s:
— Centro Cardiologico Monzino -
Research area/topic::
Contribution of lipids and their oxidized metabolites on arrhythmogenic cardiomyopathy pathogenesis
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Institution/s:
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
Learn moreSources and references
You can check the following sources for additional information.
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