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.

Introduction: Marfan syndrome MFS is an inherited connective tissue disorder. Aortic root dilatation remains the significant indicator for morbidity and mortality. After recent publication of the pediatric multicenter study and the publication of our data the year before concerning the effectiveness and tolerability Angiotensin II inhibitor (ARB) therapy versus β-blocker (BB) we now present an actual update after six years of experience.

Background: Marfan syndrome (MFS) is an inherited connective-tissue disorder classically caused by different mutations in FBN1 gene. In childhood specific type of mutation and its correlation with cardiac pathologies is deficient known. This study evaluates detailed mutation and association with cardiac pathology. After all we want to evaluate whether there is a need to differentiate between specific mutations concerning prognosis, follow-up and medical treatment.