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Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Definition

ARVC is a rare, familial heart-muscle disease that causes sudden death usually in young people. The disease is characterized by either massive or partial progressive replacement of myocardium by fatty or fibro-fatty tissue. This infiltration provides a substrate for ventricular dilatation and electrical instability and leads to ventricular arrhythmias, ranging from isolated premature ventricular contractions (PVC) to sustained ventricular tachycardia (VT) or ventricular fibrillation (VF). The prevalence of the disease in the general population is around  1 in 2000. Eighty percent of ARVC cases are diagnosed in patients under 40 years of age. Unfortunately, the disease is frequently diagnosed postmortem, particularly in young adults or athletes. The disease rarely gives symptoms at young age and it is a challenge to diagnose it in early stages.

Task Force Criteria for ARVC diagnosis

Use this questonary to know if your patient can have this disease.

 

Why to perform genetic testing in cases with suspected ARVC?

  • To confirm the diagnosis
  • To better perform risk stratification and prognosis
  • To identify other relatives at risk to develop the disease

 

Our ARVC genetic test panel

DES, DSC2, DSG2, DSP, FLNC,  JUP,  LMNA, PKP2, PLN,  SCN5A, TMEM43, TTN.

Important: All our panels can be modified based on the phenotype. Please contact us if you have questions

What to expect from this test: ARVC genetic test has a general yield of 60%. The yield is higher if there is clear familiar pattern and lower if the disease is possible or probable by Task Force Criteria 2010.

 

Recommended Literature

  • Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis. Medeiros Domingo A, et al., Europace. 2017 Jun 1;19(6):1063-1069. doi: 10.1093/europace/euw098
  • Arrhythmogenic Right Ventricular Cardiomyopathy: Progress Toward Personalized Management. James CA et al. Annu Rev Med.2018 Oct 24. doi: 10.1146/annurev-med-041217-010932
  • Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies. Asatryan et al. J Mol Med (Berl).2018 Oct;96(10):993-1024. doi: 10.1007/s00109-018-1685-y.
  • Diagnosing ARVCin Pediatric Patients Applying the Revised Task Force Criteria: Importance of Imaging, 12-Lead ECG, and Genetics. Steinmetz et al. Pediatr Cardiol. 2018 May 12. doi: 10.1007/s00246-018-1875-y.
  • Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation. Castelleti S et al. Int J Cardiol.2017 Dec 15;249:268-273. doi: 10.1016/j.ijcard.2017.05.018.

 

Download here interesting open access manuscripts on genetics of ARVC

Links to ARVC programs