High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations

Abstract Mutations in the TGFβR2 gene have been associated with a life threatening risk of aortic dissection but no arrhythmic death has been previously reported. Two young females carrying a TGFβR2 mutation, initially diagnosed as Marfan syndrome or Loeys Dietz syndrome, presented sudden death with...

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Autores principales:	F. Extramiana, O. Milleron, S. Elbitar, A. Uccellini, M. Langeois, M. Spentchian, G. Delorme, F. Arnoult, I. Denjoy, C. Bouleti, V. Fressart, F. Iserin, P. Maison-Blanche, M. Abifadel, A. Leenhardt, C. Boileau, G. Jondeau
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/db8f2e09b007475a9d53422b5a3f6373
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spelling	oai:doaj.org-article:db8f2e09b007475a9d53422b5a3f63732021-12-02T15:08:18ZHigh prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations10.1038/s41598-018-31298-52045-2322https://doaj.org/article/db8f2e09b007475a9d53422b5a3f63732018-08-01T00:00:00Zhttps://doi.org/10.1038/s41598-018-31298-5https://doaj.org/toc/2045-2322Abstract Mutations in the TGFβR2 gene have been associated with a life threatening risk of aortic dissection but no arrhythmic death has been previously reported. Two young females carrying a TGFβR2 mutation, initially diagnosed as Marfan syndrome or Loeys Dietz syndrome, presented sudden death with autopsy ruling out dissection. The ECGs of the 2 Sudden Cardiac Deaths revealed profound ventricular repolarization abnormalities with a sinusoidal T-U morphology associated with normal left ventricular ejection fraction. These data strongly suggest sudden cardiac arrhythmic deaths and prompted us to systematically study the repolarization pattern in the patients with TGFβR2 mutations. ECG findings from 58 mutation carriers patients (TGFβR2 group) were compared with those of 46 non-affected first degree relatives (control group). TGFβR2 mutation was associated with ventricular repolarization abnormalities in 47% of patients (p < 0.001 vs. controls), including a 19.6 ms (95%CI 8.7; 30.5) QTc interval prolongation compared to the non-affected first degree relatives (p < 0.001), higher prevalence of abnormal U waves (16% vs. 2%), and sinusoidal T-U morphology (10% vs. 0%). TGFβR2 mutations can be associated with abnormal ventricular repolarization pattern, longer QT interval than non-carrier relatives and an increased risk for sudden death.F. ExtramianaO. MilleronS. ElbitarA. UccelliniM. LangeoisM. SpentchianG. DelormeF. ArnoultI. DenjoyC. BouletiV. FressartF. IserinP. Maison-BlancheM. AbifadelA. LeenhardtC. BoileauG. JondeauNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 8, Iss 1, Pp 1-8 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q F. Extramiana O. Milleron S. Elbitar A. Uccellini M. Langeois M. Spentchian G. Delorme F. Arnoult I. Denjoy C. Bouleti V. Fressart F. Iserin P. Maison-Blanche M. Abifadel A. Leenhardt C. Boileau G. Jondeau High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations
description	Abstract Mutations in the TGFβR2 gene have been associated with a life threatening risk of aortic dissection but no arrhythmic death has been previously reported. Two young females carrying a TGFβR2 mutation, initially diagnosed as Marfan syndrome or Loeys Dietz syndrome, presented sudden death with autopsy ruling out dissection. The ECGs of the 2 Sudden Cardiac Deaths revealed profound ventricular repolarization abnormalities with a sinusoidal T-U morphology associated with normal left ventricular ejection fraction. These data strongly suggest sudden cardiac arrhythmic deaths and prompted us to systematically study the repolarization pattern in the patients with TGFβR2 mutations. ECG findings from 58 mutation carriers patients (TGFβR2 group) were compared with those of 46 non-affected first degree relatives (control group). TGFβR2 mutation was associated with ventricular repolarization abnormalities in 47% of patients (p < 0.001 vs. controls), including a 19.6 ms (95%CI 8.7; 30.5) QTc interval prolongation compared to the non-affected first degree relatives (p < 0.001), higher prevalence of abnormal U waves (16% vs. 2%), and sinusoidal T-U morphology (10% vs. 0%). TGFβR2 mutations can be associated with abnormal ventricular repolarization pattern, longer QT interval than non-carrier relatives and an increased risk for sudden death.
format	article
author	F. Extramiana O. Milleron S. Elbitar A. Uccellini M. Langeois M. Spentchian G. Delorme F. Arnoult I. Denjoy C. Bouleti V. Fressart F. Iserin P. Maison-Blanche M. Abifadel A. Leenhardt C. Boileau G. Jondeau
author_facet	F. Extramiana O. Milleron S. Elbitar A. Uccellini M. Langeois M. Spentchian G. Delorme F. Arnoult I. Denjoy C. Bouleti V. Fressart F. Iserin P. Maison-Blanche M. Abifadel A. Leenhardt C. Boileau G. Jondeau
author_sort	F. Extramiana
title	High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations
title_short	High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations
title_full	High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations
title_fullStr	High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations
title_full_unstemmed	High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations
title_sort	high prevalence of ventricular repolarization abnormalities in people carrying tgfβr2 mutations
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/db8f2e09b007475a9d53422b5a3f6373
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High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations

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