Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes

Matolweni, L.O.; Bardien, Soraya; Rebello, George; Oppon, Ekow; Munclinger, M; Ramesar, Raj; Watkins, Hugh; Mayosi, Bongani M.

doi:10.1186/1471-2350-7-29

Cited by 18 publications

(14 citation statements)

References 23 publications

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“…So far, the results of this work suggest that there is a familial tendency to the condition, with at least six different causative genes and nine gene loci being implicated in its development (Calkins 2006, Corrado and Thiene 2006, Matolweni and others 2006). Genetic research in boxer dogs has also identified a familial predisposition to ARVC (Meurs and others 1999, Basso and others 2004).…”

Section: Discussionmentioning

confidence: 79%

Arrhythmogenic right ventricular cardiomyopathy as a cause of unexpected cardiac death in two horses

et al. 2010

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Postmortem and histological examination of the hearts from two horses, a five-year-old Clydesdale gelding and a 15-year-old cob gelding, revealed changes characteristic of arrhythmogenic right ventricular cardiomyopathy. In both cases, on gross examination, the right ventricular endocardium and interventricular septum were almost entirely replaced with a gelatinous yellow fibroareolar tissue. This tissue was histologically a combination of fibrous and adipose tissue that had replaced the normal myofibres and disrupted the Purkinje fibres.

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Section: Discussionmentioning

confidence: 79%

Arrhythmogenic right ventricular cardiomyopathy as a cause of unexpected cardiac death in two horses

et al. 2010

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“…To the best of our knowledge, the first confirmed cases of ARVC from Africa were reported in 2000, and a kindred that is linked to the ARVC6 locus was subsequently reported in 2006 53 54. The ARVC Registry of South Africa has presented the first findings of the molecular genetics of ARVC on the African continent 55.…”

Section: What Is New On the Pathogenesis Of Heart Failure And Cardiommentioning

confidence: 99%

Recent advances in the epidemiology, pathogenesis and prognosis of acute heart failure and cardiomyopathy in Africa

Sliwa

Mayosi

2013

Heart

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This review addresses recent advances in the epidemiology, pathogenesis and prognosis of acute heart failure and cardiomyopathy based on research conducted in Africa. We searched Medline/PubMed for publications on acute decompensated heart failure and cardiomyopathy in Africa for the past 5 years (ie, 1 January 2008 to 31 December 2012). This was supplemented with personal communications with colleagues from Africa working in the field. A large prospective registry has shown that acute decompensated heart failure is caused by hypertension, cardiomyopathy and rheumatic heart disease in 90% of cases, a pattern that is in contrast with the dominance of coronary artery disease in North America and Europe. Furthermore, acute heart failure is a disease of the young with a mean age of 52 years, occurs equally in men and women, and is associated with high mortality at 6 months (∼18%), which is, however, similar to that observed in non-African heart failure registries, suggesting that heart failure has a dire prognosis globally, regardless of aetiology. The molecular genetics of dilated cardiomyopathy, hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy in Africans is consistent with observations elsewhere in the world; the unique founder effects in the Afrikaner provide an opportunity for the study of genotype-phenotype correlations in large numbers of individuals with cardiomyopathy due to the same mutation. Advances in the understanding of the molecular mechanisms of peripartum cardiomyopathy have led to promising clinical trials of bromocriptine in the treatment of peripartum heart failure. The key challenges of management of heart failure are the urgent need to increase the use of proven treatments by physicians, and the control of hypertension in primary care and at the population level.

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“…Underlying gene mutations have been identified in ARVC/D [Coonar et al, 1998;McKoy et al, 2000;Tiso et al, 2001;Rampazzo et al, 2002;Gerull et al, 2004;Beffagna et al, 2005;Pilichou et al, 2006;Syrris et al, 2006;Asimaki et al, 2007;Merner et al, 2008] and, more recently, EA [Postma et al, 2011]. Chromosomal regions have been identified for ARVC/D types 3, 4, 6, and 7 (14q12-q22; 2q32.1; 10p12-p14; and 10q22.3, respectively), but the genes have not yet been pinpointed [Severini et al, 1996;Rampazzo et al, 1997;Matolweni et al, 2006;Kuhl et al, 2008]. TUAPVS is much rarer and is usually lethal in infancy; determining a genetic cause awaits the availability of low cost whole genome sequencing.…”

Section: Introductionmentioning

confidence: 99%

Arrhythmogenic right ventricular cardiomyopathy/Dysplasia (ARVC/D)

Iyer¹,

Chin²

2013

American J of Med Genetics Pt C

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Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a progressive genetic cardiomyopathy characterized by progressive fatty and fibrous replacement of ventricular myocardium. The clinical presentation is marked by ventricular arrhythmias, some fatal. The disease has evolved from a primary electrical/electrophysiological disorder (in the 1980s-1990s) to a diagnostic imaging conundrum (in the 2000s) to the current day understanding of a genetic cardiomyopathy caused by defects in cell-cell adhesion proteins or intracellular signaling components. The pathogenesis, clinical presentation, and the genetics of the disease are discussed in this review.

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Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes

Cited by 18 publications

References 23 publications

Arrhythmogenic right ventricular cardiomyopathy as a cause of unexpected cardiac death in two horses

Arrhythmogenic right ventricular cardiomyopathy as a cause of unexpected cardiac death in two horses

Recent advances in the epidemiology, pathogenesis and prognosis of acute heart failure and cardiomyopathy in Africa

Arrhythmogenic right ventricular cardiomyopathy/Dysplasia (ARVC/D)

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