Dilatation of Pulmonary Artery Correlates with Severity of Marfan Phenotype in Childhood

Introduction: Marfan syndrome (MFS) is an inherited connective tissue disorder with multifaceted phenotype especially in childhood. Due to risk of dilatation of sinus of valsalvae (SV) frequent echocardiographic follow-up is indispensable for patients. Another symptom of MFS is dilatation of pulmonary artery (PA). Measurement of diameter of PA is easy executable using echocardiography and MRI. This study aims to demonstrate the correlation of PA dilatation with other organ manifestations in MFS to evaluate its usefulness for estimation of severity of Marfan phenotype.

Methods: We investigated 114 patients (11.1 ± 5.5 years, 64 male) with confirmed MFS. We subjected patients to a standardized diagnostic program including echocardiography, MRI and examination according to revised Ghent Criteria. We evaluated PA dilatation according to Zilberman et al. We analyzed correlation of PA dilatation with other organ manifestations.

Results: Pediatric patients with PA dilatation (8%) developed dilatation of SV and systemic manifestation earlier than patients without (p < 0.05). Mitral valve prolapse occurred more often in this patient group (Table 1).

Table 1 Comparison of prevalence and age of manifestation (Age) of dilatation of SV, mitral valve prolapse (MVP), systemic manifestation (SysMan), ectopia lentis (EL), FBN1 mutation between MFS with and without PA dilatation

	Patients with dilatation of PA (n = 9, 6.5 ± 5.5 years)		Patients without dilatation of PA (n = 105, 10.0 ± 5.9)		p
	Prevalence (%)	Age (y)	Prevalence (%)	Age (y)	Prevalence	Age
SV	100	5.9 ± 4.0	69	10.0 ± 5.8	0.102	0.023
MVP	87.5	7.0 ± 5.0	53.3	10.3 ± 5.7	0.049	0.144
SysMan	62.5	7.1 ± 5.9	50.5	13.0 ± 4.3	0.717	0.092
EL	37.5	6.1 ± 4.0	18.1	7.80 ± 5.4	0.185	0.551
FBN1	45	-	69	-	0.435

Conclusion: We conclude that PA dilatation correlates with age of onset of dilatation of SV which is most important for morbidity and mortality and systemic manifestation which represents a major part of the MFS phenotype. Thus measurement of PA in pediatric patients with MFS is essential and relevant for assessment of potential morbidity and mortality.