The Pulmonary Artery in Pediatric Patients with Marfan Syndrome: An Underestimated Aspect of the Disease

Abstract

Aortic root dilatation and its complications are known to be the most important and life limiting features in patients with Marfan syndrome (MFS). Since monitoring of patients, preventive medical and surgical treatments are available nowadays, other MFS pathologies are becoming more relevant for the outcome of the disease. Main pulmonary artery (MPA) dilatation is a cardiac finding, which has not been fully investigated in children. Due to the similarities in tissue composition of the aortic and pulmonary root, MPA dilatation may cause complications and require treatment. In addition, it may be a predictor for severe connective tissue involvement. We retrospectively examined 135 pediatric patients with MFS. 8.1% showed MPA dilatation. MPA dilatation was associated with earlier occurrence of aortic dilatation, mitral valve prolapse, and systemic manifestations of MFS compared with patients without MPA dilatation (p < 0.05). The presence of MPA dilatation was also associated with a higher incidence of ectopia lentis (p < 0.05). Medical treatment was started earlier in MPA dilatation patients than in those without (p < 0.05). We conclude that MPA dilatation is a sign of more severe vascular and connective tissue involvement. Regular examination of the pulmonary artery is essential in MFS to avoid complications. As medical treatment of life threatening MFS events has improved, other features of MFS need to be investigated to improve quality of life.

A scoping review presenting a wide variety of research on paediatric and adolescent patients with Marfan syndrome

“…The literature search revealed 2341 de‐duplicated records, of which 289 were read in full. After the application of the inclusion criteria, 92 papers were included in the present review …”

“…Several papers reported on mitral valve prolapse. Meanwhile, one study showed the prevalence of main pulmonary artery dilatation and its association with the occurrence of aortic root diameter, mitral valve prolapse and systemic manifestations of Marfan syndrome compared to patients without main pulmonary artery dilatations . A trial with children with no previous aortic surgeries or dissections studied the prevalence of arrhythmias in relation to clinical and echocardiographic factors .…”

“…Data were also analysed from echocardiograms at 0, 12, 24 and 36 months for 608 trial subjects to identify predictors of rapid aortic root diameter or referrals for aortic root surgery . Regarding study design, there were three prospective studies, one cross‐sectional study, eight retrospective chart reviews and one randomised controlled trial (two papers), that provided baseline data and findings . The studies included between eight and 608 children and adolescents, aged 0.5‐18 years, for a total of 1260.…”

Progressive Pulmonary Artery Dilatation is Associated with Type B Aortic Dissection in Patients with Marfan Syndrome

“…More recently, Stark and co-workers also found that dilated PA diameters on echocardiography in children are associated with an earlier occurrence of aortic dilatation, mitral valve prolapse, and systemic manifestations of MFS. In conclusion, there seems to be an association between pulmonary artery dimensions and aortic root involvement in Marfan patients, but longitudinal data are lacking [20].…”

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

“…Dilatation of the main pulmonary artery, 'in the absence of valvular or peripheral pulmonic stenosis, before the age of 40 years' was a diagnostic criterion of Marfan syndrome in the first Ghent nosology, but it was removed from the list of diagnostic signs [44] in the revised nosology due to the lack of diagnostic specificity [16,29]. The prevalence of pulmonary artery dilatation ranges between 8% and 16% in children [20,45] and 37% and 74% in adults with Marfan syndrome [20,44,46]. In addition, the pulmonary valve was shown to exhibit echocardiographic signs of cusp prolapse in 6% children and in 4% adults with Marfan syndrome, as well as of mild pulmonary regurgitation in 11% children, and 6% adults with Marfan syndrome [47].…”