In order to bring you the best possible user experience, this site uses Javascript. If you are seeing this message, it is likely that the Javascript option in your browser is disabled. For optimal viewing of this site, please ensure that Javascript is enabled for your browser.
Did you know that your browser is out of date? To get the best experience using our website we recommend that you upgrade to a newer version. Learn more.

Quiz on genetic and atrial septal defect


1.     Brassington AME, Sung SS, Toydemir RM, Le T, Roeder AD, Rutherford AE, et al. Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. Am J Hum Genet. 2003 Jul;73(1):74–85.  

2.     Maury P, Gandjbakhch E, Baruteau AE, Bessière F, Kyndt F, Bouvagnet P, et al. Cardiac Phenotype and Long-Term Follow-Up of Patients With Mutations in NKX2-5 Gene. J Am Coll Cardiol. 2016 Nov 29;68(21):2389–90.  

3.     Ellesøe SG, Johansen MM, Bjerre JV, Hjortdal VE, Brunak S, Larsen LA. Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature. Congenit Heart Dis. 2016 May;11(3):283–90.  

4.     Monserrat L, Hermida-Prieto M, Fernandez X, Rodríguez I, Dumont C, Cazón L, et al. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur Heart J. 2007 Aug;28(16):1953–61.  

The content of this article reflects the personal opinion of the author/s and is not necessarily the official position of the European Society of Cardiology.