Marfan syndrome in children: correlation between musculoskeletal features and cardiac Z-score.

We investigated the correlation between the musculoskeletal features and the cardiovascular anomalies in pediatric patients affected by Marfan syndrome, in order to identify possible orthopedic deformities that could be a warning sign for severe aortic dilatation. Moreover, we analyzed the role of the orthopedic aspects in the early diagnosis of the disease in a pediatric population. Seventy-two patients from 3 to 14 years of age, underwent interdisciplinary evaluation that included an orthopedic and cardiological examination. At the orthopedic examination, we analyzed the musculoskeletal features included in the systemic score of the revised Ghent criteria. Cardiological evaluation included a transthoracic echocardiography with de nition of the cardiac Z-score, which is an index that evaluates aortic diameter. A statistical analysis was performed. We identi ed a statistically signi cant correlation between the presence of pectus excavatum and cardiac Z-score ≥3 (P = 0.022). Clinically, this data means that pectus excavatum is frequently observed in patients with larger aortic root diameter. On the contrary, no statistically signi cant correlation was found between the other Introduction Marfan syndrome is an autosomal dominant heritable disorder of the connective tissue caused by mutation in the brillin-1 gene (FBN1), which is located on chromo- some 15 and encodes the micro brillar protein FBN1. It is an important component of the elastic bers of the connective tissue and therefore Marfan syndrome affects virtually every organ [1–3]. This disease occurs world- wide and affects both sexes equally with an estimated prevalence of 2–3 people per 10 000 [4]. Cardinal man- ifestations involve the cardiovascular, skeletal and ocu- lar systems. The phenotypic features of this syndrome are tall stature, arachnodactyly, disproportionately long and thin limbs, skin striae and joint laxity, but the most severe clinical features are represented by the aortic root aneurysm and ectopia lentis. Progressive aortic dilatation, especially in the sinus of Valsalva, associated with aortic valve incompetence leads to aortic dissection or rupture and is the main cause of mortality [5–7]. The diagnosis of Marfan syndrome is de ned by the Ghent criteria [8], that were revised in 2010 [9]. The most important ortho- pedic abnormalities in this syndrome are the wrist sign, investigated musculoskeletal features and a pathological Z-score. In the pediatric population, the diagnosis of Marfan syndrome remains dif cult because many clinical manifestations are age-dependent and the Ghent criteria, usually used for adults, are not reliable in children. Our results show that the presence of pectus excavatum could help in the early identi cation of patients at greater risk of developing possibly fatal aortic disease. However, it is always indicated to screen all patients with Marfan syndrome for cardiac abnormalities, even in absence of pectus excavatum.