Differences in Cardiovascular Manifestation of Marfan Syndrome Between Children and Adults

Abstract

Marfan syndrome (MFS) is a connective tissue disorder characterized by a broad range of clinical manifestations. Cardiovascular involvement is the most life-threatening aspect of the syndrome. Although abnormalities within the cardiovascular system in adults are well documented, there is still a paucity of data regarding manifestation of MFS in childhood. The aim of the study was to compare cardiovascular manifestation of MFS between children and adults. The study population consisted of 236 patients (144 children and 92 adults), who were referred to our department with suspicion of MFS. All patients underwent complete clinical evaluation in order to confirm the diagnosis of MFS according to the modified Ghent criteria. MFS was diagnosed in 101 (44 children and 57 adults) out of the 236 patients. The other patients were diagnosed with Ehlers-Danlos syndrome, Loeys–Dietz syndrome, MASS phenotype, ectopia lentis syndrome, marfanoid habitus and other rare syndromes. The most common cardiovascular abnormality was aortic root dilatation (81.19% of patients). It was found that both adults and children had similar high rates of aortic root dilatation. Similarly, there was no significant difference with regard to the prevalence of aortic valve regurgitation and mitral valve prolapse among children and adults. These findings equivocally indicate that the aforementioned abnormalities develop in early childhood, therefore, they may be used in the early identification of patients with MFS. Other assessed abnormalities, which included mitral valve regurgitation, pulmonary artery dilation, aneurysms of aortic arch, descending thoracic aorta and abdominal aorta were found mostly in adults, and thus, are of less use in the early detection of MFS.

New Screening Tool for Aortic Root Dilation in Children with Marfan Syndrome and Marfan-Like Disorders

“…These results indicate that the ratio proposed by Kemna et al is not suitable for precise screening of aortic root dilation and certainly cannot be used in patients with dilation of the descending aorta. As we previously demonstrated, the latter does not occur as often as dilation of the aortic root, but it is still one of the most characteristic abnormalities in patients with MFS and Marfan-like disorders [20].…”

Biology and Biomechanics of the Heart Valve Extracellular Matrix

“…MS is characterized by skeletal abnormalities, joint laxity, and ocular lens dislocation [ 127 , 128 ]. However, the cardiovascular manifestations, such as aortic dissection and mitral and aortic valvular dysfunction, are the most common cause of reduced life expectancy [ 21 ], and can be present at birth or acquired later [ 129 , 130 ]. It has been reported that mitral valve prolapse affects as many as 77% of MS patients by 60 years of age [ 131 ].…”

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

“…The opposing view holds, that a congenitally bicuspid aortic valve is an integral part of the Marfan syndrome. Advocators of this view describe an increased frequency of 4.5-4.7% of the bicuspid aortic valve in Marfan syndrome, and even 6.8-8.5% in pediatric Marfan patients [19,20], compared to 0.5-1.5% BAV prevalence in the general population. It is argued that common pathogenic mechanisms are likely to underlie both entities [21,22].…”

“…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].…”

“…Therefore, surgeons tend to assume pulmonary root disease in Marfan syndrome that leads them to dissuade a Ross procedure in Marfan syndrome [48,49]. However, main pulmonary artery aneurysms >6 cm diameter as an isolated indication for elective surgery [44], or more than mild pulmonary regurgitation occurs only exceptionally in Marfan syndrome [20]. In conclusion, the pulmonary artery root may be affected by the same connective tissue defect as the aortic root in Marfan syndrome.…”