High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations

Autor:	O. Milleron, Fabrice Extramiana, Antoine Leenhardt, Marianne Abifadel, A. Uccellini, Franck Iserin, Claire Bouleti, Catherine Boileau, Maud Langeois, Myrtille Spentchian, Sandy Elbitar, G Delorme, G Jondeau, Véronique Fressart, Isabelle Denjoy, Pierre Maison-Blanche, F Arnoult
Jazyk:	angličtina
Rok vydání:	2018
Předmět:	0301 basic medicine Marfan syndrome medicine.medical_specialty Adolescent Science 030204 cardiovascular system & hematology QT interval Sudden death Loeys–Dietz syndrome Article 03 medical and health sciences Electrocardiography Young Adult 0302 clinical medicine Internal medicine medicine Repolarization Humans First-degree relatives Aortic dissection Multidisciplinary Ejection fraction business.industry Receptor Transforming Growth Factor-beta Type II Arrhythmias Cardiac medicine.disease 3. Good health 030104 developmental biology Death Sudden Cardiac Mutation Cardiology Medicine Female business
Zdroj:	Scientific Reports, Vol 8, Iss 1, Pp 1-8 (2018) Scientific Reports
ISSN:	2045-2322
Popis:	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 TGFβR2 mutations can be associated with abnormal ventricular repolarization pattern, longer QT interval than non-carrier relatives and an increased risk for sudden death.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00729f0214ad41af0c9f3a84f5d81da5 https://doaj.org/article/db8f2e09b007475a9d53422b5a3f6373 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.