Prediction of Cardiomyopathic Features of Marfan's Syndrome

Objectives: Marfan's syndrome (MFS) is an autosomal-dominant connective tissue disease which often causes severe complications in the cardiovascular system. While secondary cardiac manifestation often in the form of aorto- and/or valvulopathy is well described, a possible primary Marfan's cardiomyopathy is still being debated. The goal of this preliminary analysis is to quantify potential cardiomyopathic features in pediatric patients with MFS and to explore possible predictors of those.

Methods: Based on retrospective chart review and echocardiographic data of 40 randomly selected MFS-patients from our pediatric Marfan's clinic, we aimed to quantify the cardiomyopathic burden on this group and to determine its predictive factors. A patient was defined as to have a cardiomyopathy if either of the following was true: cardiac index (CI) below the age adjusted lower limit of normal (LLNaa), ejection fraction (EF) below 50%, or the presence of clinical symptoms of CHF (NYHA > 1). Using multivariable logistic regression analysis, predictive models of cardiomyopathy were determined.

Result: In the 40 patients with secured MFS (age, mean ± SD, 15.5 ± 3.62 years) the cardiomyopathy incidence was 50%. Only 17.5% experienced symptoms of CHF (NYHA > 1). The CI and the EF was on average lower in the CHF-cohort (mean ± SD, CI: 2.2 ± 0.8 versus 3.0 ± 1.3 L/min/m², p = 0.04; EF: 60.62 ± 12.81 vs. 67.72 ± 11.76%, p = 0.11). The presence of aortic valve regurgitation (23%) did not differ between the groups (p = 0.27). Multivariate analysis established the combination of the following dependent factors to be predictive of our outcome variable (p = 0.002): myopia >3 dpt, female sex, striae distensae, height <90th percentile, age <17 years, heart rate <LLNaa, and main pulmonary artery to sinus of Valsalva's ratio >0.7. Each additional parameter being true was associated with an 8.27-fold increase in the odds for cardiomyopathy (95% confidence interval: 2.4–28.0, p = 0.001). Availability of ≥3 of the factors predicts cardiomyopathy with a 90% sensitivity and an 85% specificity in the presented group.

Conclusion: In a randomly selected cohort of pediatric MFS-patients, 50% experience signs of cardiomyopathy. The combination of derived patient characteristics tracked on follow-up may open the opportunity to predict those at increased risk. Risk prediction along a continuum of clinical and imaging parameters may open opportunities to focus resources on preventing a cardiac function deterioration, based on a predictive score system.

Publication History

Article published online:
21 February 2021