AimsDiscrete subaortic stenosis (DSS) is often diagnosed early in life and known for its sometimes rapid haemodynamic progression in childhood and strong association with aortic regurgitation (AR). However, data about the evolution of DSS in adulthood are scarce. Therefore, we aimed to evaluate the natural history of DSS, and identify risk factors for the progression of DSS, AR, and intervention-free survival.Methods and resultsConservatively managed adult DSS patients were included in this retrospective multicentre cohort study. Mixed-effects and joint models were used to assess the progression of DSS and AR, and intervention-free survival. Longitudinal natural history data were available for 149 patients [age 20 (IQR: 18-34) years, 48% male]. Sixty patients (40.3%) had associated congenital heart defects (CHDs). The median follow-up duration was 6.3 (IQR: 3.0-12.4) years. The baseline peak left ventricular outflow tract (LVOT) gradient was 32.3 ± 17.0 mmHg and increased by 0.8 ± 0.1 mmHg/year. While the baseline LVOT gradient (P = 0.891) or age (P = 0.421) did not influence the progression rate, the presence of associated CHD was associated with faster progression (P = 0.005). Mild AR was common (58%), but did not significantly progress over time (P = 0.701). The median intervention-free survival was 16 years and associated with the baseline LVOT gradient [hazard ratio (HR) = 3.9 (95% CI: 2.0-7.6)], DSS progression [HR = 2.6 (95% CI: 2.0-3.5)], and AR [HR = 6.4 (95% CI 2.6-15.6)].ConclusionIn contrast to children, DSS progresses slowly in adulthood. In particular, patients with associated CHD are at risk for faster progression and should be monitored cautiously. Discrete subaortic stenosis progression is not influenced by the baseline LVOT gradient or age. Mild AR is common, but non-progressive over time.

adult, adulthood, aorta subvalvular stenosis, aorta valve regurgitation, aorta valve replacement, aortic valve repair, article, cardiovascular risk, cohort analysis, congenital heart malformation, conservative treatment, disease course, female, follow up, heart left ventricle hypertrophy, heart left ventricle outflow tract, heart ventricle septum defect, human, major clinical study, male, muscle resection, outcome assessment, postoperative complication, pressure gradient, priority journal, retrospective study, risk assessment, survival,
European Heart Journal
Erasmus MC: University Medical Center Rotterdam

van der Linde, D, Takkenberg, J.J.M, Rizopoulos, D, Heuvelman, H.J, Budts, W, van Dijk, A.P.J, … Oechslin, E.N. (2013). Natural history of discrete subaortic stenosis in adults: A multicentre study. European Heart Journal, 34(21), 1548–1556. doi:10.1093/eurheartj/ehs421