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Arrhythmogenic right ventricular dysplasia, familial, 7(ARVD7)

MedGen UID:
373153
Concept ID:
C1836704
Disease or Syndrome
Synonym: ARVD7

Definition

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.

ARVC may not cause any symptoms in its early stages. However, affected individuals may still be at risk of sudden death, especially during strenuous exercise. When symptoms occur, they most commonly include a sensation of fluttering or pounding in the chest (palpitations), light-headedness, and fainting (syncope). Over time, ARVC can also cause shortness of breath and abnormal swelling in the legs or abdomen. If the myocardium becomes severely damaged in the later stages of the disease, it can lead to heart failure. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Christensen AH, Platonov PG, Jensen HK, Chivulescu M, Svensson A, Dahlberg P, Madsen T, Frederiksen TC, Heliö T, Lie ØH, Haugaa KH, Hastrup Svendsen J, Bundgaard H
J Med Genet 2022 Sep;59(9):858-864. Epub 2021 Aug 16 doi: 10.1136/jmedgenet-2021-107911. PMID: 34400560
Corrado D, van Tintelen PJ, McKenna WJ, Hauer RNW, Anastastakis A, Asimaki A, Basso C, Bauce B, Brunckhorst C, Bucciarelli-Ducci C, Duru F, Elliott P, Hamilton RM, Haugaa KH, James CA, Judge D, Link MS, Marchlinski FE, Mazzanti A, Mestroni L, Pantazis A, Pelliccia A, Marra MP, Pilichou K, Platonov PGA, Protonotarios A, Rampazzo A, Saffitz JE, Saguner AM, Schmied C, Sharma S, Tandri H, Te Riele ASJM, Thiene G, Tsatsopoulou A, Zareba W, Zorzi A, Wichter T, Marcus FI, Calkins H; International Experts
Eur Heart J 2020 Apr 7;41(14):1414-1429. doi: 10.1093/eurheartj/ehz669. PMID: 31637441Free PMC Article
Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MG, Daubert JP, Fontaine G, Gear K, Hauer R, Nava A, Picard MH, Protonotarios N, Saffitz JE, Sanborn DM, Steinberg JS, Tandri H, Thiene G, Towbin JA, Tsatsopoulou A, Wichter T, Zareba W
Eur Heart J 2010 Apr;31(7):806-14. Epub 2010 Feb 19 doi: 10.1093/eurheartj/ehq025. PMID: 20172912Free PMC Article

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