Schematic representation of the individual diagnosis of hypertrophic cardiomyopathy (HCM) within the study population, using the echocardiographic (Echo) and electrocardiographic (ECG) criteria proposed by McKenna et al10.
posted on 2013-02-20, 05:32authored byKai Hang Yiu, Douwe E. Atsma, Victoria Delgado, Arnold C. T. Ng, Tomasz G. Witkowski, See Hooi Ewe, Dominique Auger, Eduard R. Holman, Anneke M. van Mil, Martijn H. Breuning, Hung Fat Tse, Jeroen J. Bax, Martin J. Schalij, Nina Ajmone Marsan
The diagnosis of HCM is made in the presence of 1 major criterion or of 2 minor Echo criteria or of 1 minor Echo +2 minor ECG criteria. A total of 46 mutation carriers with phenotype expression (Mut+/Phen+) and 47 mutation carriers without phenotype expression (Mut+/Phen−) were identified.