Left ventricular outflow tract obstruction as a primary phenotypic expression of hypertrophic cardiomyopathy in mutation carriers without hypertrophy

Lopes, LuisCotrim, CarlosCruz, InêsPicano, EugenioPinto, FátimaPereira, Hélder2022-02-162022-02-162014Int J Cardiol. 2014 Oct 20;176(3):1264-12670167-5273http://hdl.handle.net/10451/51346© 2014 Elsevier Ireland Ltd. All rights reserved.The late and incomplete penetrance that characterizes hypertrophic cardiomyopathy (HCM), combined with the relatively low – 40–50% – yield of genetic testing, has stimulated the search for markers of early disease in “pre-hypertrophic” relatives of index patients. The main suggested aims of those markers are to identify relatives at risk of developing HCM in families where a causal mutation is not identified, or to predict the risk of developing disease in carriers of a causal mutation in a non-hypertrophic stage. The clinical value of identifying these markers remains to be validated. We describe a possible novel and clinical relevant marker of this subclinical/pre-hypertrophic stage, as we report two pathogenic mutation carriers without hypertrophy, where a significant latent left ventricular outflow tract (LVOT) gradient was identified by treadmill stress echocardiography.engExercise stress echocardiographyGeneticsHypertrophic cardiomyopathyLeft ventricular outflow tract obstructionMutation carriersLeft ventricular outflow tract obstruction as a primary phenotypic expression of hypertrophic cardiomyopathy in mutation carriers without hypertrophyjournal article10.1016/j.ijcard.2014.07.1911874-1754