Show simple item record

dc.contributor.authorDomínguez, Fernando
dc.contributor.authorZorio, Esther
dc.contributor.authorJiménez Jaimez, Juan
dc.contributor.authorSalguero Bodes, Rafael
dc.contributor.authorZwart, Robert
dc.contributor.authorGonzález López, Esther
dc.contributor.authorMolina, Pilar
dc.contributor.authorBermúdez Jiménez, Francisco
dc.contributor.authorDelgado, Juan F.
dc.contributor.authorBraza-Boïls, Aitana
dc.contributor.authorBornstein, Belen
dc.contributor.authorToquero, Jorge
dc.contributor.authorSegovia, Javier
dc.contributor.authorVan Tintelen, Peter
dc.contributor.authorLara Pezzi, Enrique
dc.contributor.authorGarcía Pavía, Pablo
dc.description.abstractBackground Arrhythmogenic right ventricular cardiomyopathy type V (ARVC-5) is the most aggressive heterozygous form of ARVC. It is predominantly caused by a fully penetrant mutation (p.S358L) in the nondesmosomal gene TMEM43—endemic to Newfoundland, Canada. To date, all familial cases reported worldwide share a common ancestral haplotype. It is unknown whether the p.S358L mutation by itself causes ARVC-5 or whether the disease is influenced by genetic or environmental factors. Objective The purpose of this study was to examine the phenotype, clinical course, and the impact of exercise on patients with p.S358L ARVC-5 without the Newfoundland genetic background. Methods We studied 62 affected individuals and 73 noncarriers from 3 TMEM43-p.S358L Spanish families. The impact of physical activity on the phenotype was also evaluated. Results Haplotype analysis revealed that the 3 Spanish families were unrelated to patients with ARVC-5 with the Newfoundland genetic background. Two families shared 10 microsatellite markers in a 4.9 cM region surrounding TMEM43; the third family had a distinct haplotype. The affected individuals showed a 38.7% incidence of sudden cardiac death, which was higher in men. Left ventricular involvement was common, with 40% of mutation carriers showing a left ventricular ejection fraction of <50%. Compared with noncarriers, the R-wave voltage in lead V 3 was lower (3.2 ± 2.8 mV vs 7.5 ± 3.6 mV; P < .001) and QRS complex in right precordial leads wider (104.7 ± 24.0 ms vs 88.2 ± 7.7 ms; P = .001). A history of vigorous exercise showed a trend toward more ventricular arrhythmias only in women ( P = .053). Conclusion ARVC-5 is associated with a high risk of sudden cardiac death and characteristic clinical and electrocardiographic features irrespective of geographical origin and genetic background. Our data suggest that, as in desmosomal ARVC, vigorous physical activity could aggravate the phenotype of TMEM43 mutation
dc.publisherHeart Rhythmspa
dc.rightsAtribución-NoComercial-SinDerivadas 3.0 España*
dc.subjectArrhythmogenic right ventricular cardiomyopathyspa
dc.titleClinical characteristics and determinants of phenotype in TMEM43 Arrhythmogenic right ventricular cardiomyopathy type
dc.typejournal articlespa
dc.rights.accessRightsopen accessspa
dc.description.extent5762 KBspa

Files in this item

3.- Clinical characteristics and ...5.626MbPDFView/Open

This item appears in the following Collection(s)

Show simple item record

Atribución-NoComercial-SinDerivadas 3.0 España
Except where otherwise noted, this item's license is described as Atribución-NoComercial-SinDerivadas 3.0 España