High Prevalence Of Ventricular Repolarization Abnormalities In People Carrying Tgf Beta R2 Mutations

SCIENTIFIC REPORTS(2018)

Cited 4|Views63
No score
Abstract
Mutations in the TGF beta R2 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 TGF beta R2 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 TGF beta R2 mutations. ECG findings from 58 mutation carriers patients (TGF beta R2 group) were compared with those of 46 non-affected first degree relatives (control group). TGF beta R2 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%). TGF beta R2 mutations can be associated with abnormal ventricular repolarization pattern, longer QT interval than non-carrier relatives and an increased risk for sudden death.
More
Translated text
Key words
Cardiovascular genetics,Disease genetics,Science,Humanities and Social Sciences,multidisciplinary
AI Read Science
Must-Reading Tree
Example
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined