Marfan syndrome in children: large, single centre experience on management and outcome

Abstract Introduction Beta-blockers (BBs) and angiotensin receptor blockers (ARBs) have been proved to decrease the growth rate of the aortic root in Marfan patients, we describe our single centre experience at a large tertiary paediatric institution. Methods This is a retrospective longitudinal study of a large, paediatric only, Marfan cohort through review of medical notes for clinical data and treatment and assessment of serial echocardiograms. Results 167 patients were included, mean age at first assessment was 4.05 ± 3.12 years, 86 (51.50%) were males. 41 pts (24.55%) had a de novo FBN1 mutation. A 35.32% had a cysteine loss mutation. Median follow up was 9.54±4.37 years. 2 patients had a clinical and molecular diagnosis of early-onset Marfan, they both underwent mitral valve surgery in infancy and one of them died at 7 years old. No other deaths or acute aortic events in our cohort until transition to adult services at 18 years old. Of the entire study population 12 pts (7.2%) underwent aortic surgery at a median age of 13±7.02 years, 1 patient had a mitral valve repair. Chemoprophylaxis (currently only evaluated in a subgroup of our youngest 65 patients) was offered to all patients, 27.69% declined medicines. The remining 47 subjects are on treatment which was started at a mean age of 4.88 ±2.96 years, surveillance data available for a mean follow up of 2.75±2.41 years. 50 received BB (58.50% atenolol [average dose 0.79 mg/kg/day] and 19.15% bisoprolol [average dose 0.087 mg/kg/day]), 5 (8.51%) losartan [average dose 0.763 mg/kg/day], and 10 (15.38%) double therapy with BB and ARBs. The Sinus of Valsalva (SOV) z-scores, as assessed on echocardiograms and normalised according to Lopez dataset, showed a reduction over time in children treated with chemoprophylaxis (see figure 1). SOV mean z-score at starting treatment was 3.38 ± 2.06 which reduced to 2.79± 1.81, however, differences were not statistically significant (paired T-student p-value 0.078). In non-treated patients, initial SOV z-score was 1.89 ± 1.05. When comparing evolution there was a trend towards decreased average SOV z-score over the years in the treated group, not seen in the non-treated patients (see figure 2). No statistical differences in the SOV z-score reduction change were found when comparing different treatment groups (ANOVA p-value 0.851), but a tendency to more profound decrease in the losartan groups was observed. Reduction in blood pressure or heart rate did not differ amongst the treatment groups. Conclusions We present one of the largest single centre reviews on management of paediatric Marfan patients. Our data confirm a decrease in SOV z-score with chemoprophylaxis in a real-world cohort. This is in line with current evidence and corroborates clinical practice.SOV Z-SCORE EVOLUTION AFTER TREATMENTSOV Z-SCORE GROUP AVERAGE CHANGE