Cardiac valve involvement in ADAR-related type I interferonopathy.

Yanick CrowNandaki KeshavanJacques Patrick BarbetGeanina BercuVincent BondetCharlotte BoussardNathalie DedieuDarragh DuffyMarie HullyAlessandro GiardiniCyril GitiauxGillian Inara RiceLuis SeabraBrigitte Bader-MeunierShamima Rahman

Published in: Journal of medical genetics (2019)

Type I interferonopathies of differing genetic aetiology demonstrate an overlapping phenotypic spectrum which includes calcifying cardiac valvular disease. Individuals with ADAR-related type I interferonopathy may develop childhood-onset multivalvular stenosis and incompetence which can progress insidiously to symptomatic, and ultimately fatal, cardiac failure. Regular surveillance echocardiograms are recommended to detect valvular disease early.

Keyphrases

left ventricular
aortic valve
atrial fibrillation
public health
mitral valve
copy number
aortic stenosis
transcatheter aortic valve replacement