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Arrhythmogenic right ventricular dysplasia 4(ARVD4; ARVC4)

MedGen UID:
356107
Concept ID:
C1865881
Disease or Syndrome
Synonyms: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 4; Arrhythmogenic right ventricular dysplasia, familial, 4; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 4
 
Monarch Initiative: MONDO:0011189
OMIM®: 602087

Authors:
Elizabeth McNally  |  Heather MacLeod  |  Lisa Dellefave-Castillo   view full author information

Additional descriptions

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).
From OMIM
Familial arrhythmogenic right ventricular dysplasia-4 (ARVD4) is characterized by progressive degeneration of the myocardium of the right ventricle, with focal necrosis of muscle cells followed by adipose and connective tissue replacement. The left ventricle may be partially involved. Patches of replacement tissue result in electrical instability and arrhythmias. Patients experience syncopal episodes, and sudden death may occur (summary by Rampazzo et al., 1997). For phenotypic information and evidence of genetic heterogeneity in this disorder, see ARVD1 (107970).  http://www.omim.org/entry/602087
From MedlinePlus Genetics
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.  https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy

Clinical features

From HPO
Sudden death
MedGen UID:
8257
Concept ID:
C0011071
Pathologic Function
Rapid and unexpected death.
Ventricular arrhythmia
MedGen UID:
39082
Concept ID:
C0085612
Disease or Syndrome
A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.
Right ventricular cardiomyopathy
MedGen UID:
384481
Concept ID:
C2063326
Disease or Syndrome
Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.
Focal necrosis of right ventricular muscle cells
MedGen UID:
871154
Concept ID:
C4025627
Pathologic Function
T-wave inversion in the right precordial leads
MedGen UID:
871172
Concept ID:
C4025646
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Moccia E, Papatheodorou E, Miles CJ, Merghani A, Malhotra A, Dhutia H, Bastiaenen R, Sheikh N, Zaidi A, Sanna GD, Homfray T, Bunce N, Anderson LJ, Tome M, Behr E, Moon J, Sharma S, Finocchiaro G, Papadakis M
Int J Cardiovasc Imaging 2022 Dec;38(12):2723-2732. Epub 2022 Jul 21 doi: 10.1007/s10554-022-02684-y. PMID: 36445664
Chen L, Song J, Chen X, Chen K, Ren J, Zhang N, Rao M, Hu Z, Zhang Y, Gu M, Zhao H, Tang H, Yang Z, Hu S
Eur Heart J 2019 Jun 1;40(21):1690-1703. doi: 10.1093/eurheartj/ehz172. PMID: 30945739
Silvano M, Mastella G, Zorzi A, Migliore F, Pilichou K, Bauce B, Rigato I, Perazzolo Marra M, Iliceto S, Thiene G, Basso C, Corrado D
Minerva Med 2016 Aug;107(4):194-216. Epub 2016 May 17 PMID: 27186923

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