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GTR Home > Tests > Arrhythmogenic right ventricular dysplasia 5, 604400, Autosomal dominant (Familial isolated arrhythmogenic right ventricular dysplasia) (TMEM43 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from GeneReviews Overview

Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Chest pain
  • Dyskinesia
  • Congestive heart failure
  • Palpitations
  • Ventricular tachycardia
  • Sudden cardiac death
  • Premature ventricular contraction
  • Prolonged QRS complex
  • Presyncope
  • Right ventricular cardiomyopathy
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Inheritance pattern

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Autosomal dominant inheritance

Conditions tested

Target population

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Arrhythmogenic right ventricular dysplasia 5, 604400, Autosomal dominant (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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