Pectus excavatum and MASS phenotype: an unknown association.

INTRODUCTION Severe pectus excavatum (PE) is a deep chest wall deformity that generates both a cosmetic damage and a cardiac/respiratory function impairment. Excluding the scarce reports on Marfan's syndrome (MFS) and Ehlers-Danlos's syndrome (EDS), few studies have examined the relation between severe PE and connective tissue disorders. The aim of this study is to verify the clinical significance of such correlation. SUBJECTS AND METHODS Ninety-two consecutive patients, of whom 79 were males, between 6 and 34 years old, classified as having severe PE, were seen at our institution from June 2005 to September 2010. All patients underwent clinical, ophthalmological, cardiac, and radiological (chest and spine magnetic resonance imaging) screening. The following features were observed: skin stretch marks, scoliosis, joint hypermobility, echocardiographic signs, spinal defects, and myopia. RESULTS Classical connectivopathies such as MFS or EDS were present in only 5 patients (approximately 5%), whereas a single deformity was present in 4. The largest group (approximately 71%) was represented by phenotypical alterations such as mitral valve prolapse, aortic root enlargement, and skeletal and skin alterations (MASS). Among those patients, the most frequent clinical manifestations were the skeletal ones, followed by skin marks and mitral valve prolapse. CONCLUSIONS PE showed an evident association with an array of features that we describe as MASS. Although not one of this subgroup of patients has been described with increased aortic root diameter when screened (a feature widely present in MFS patients), they probably would require a thorough and longer follow-up than those affected by isolated PE because of the potential occurrence of severe cardiovascular complications such as aneurysms and dissection, which are major causes of morbidity and mortality in MFS.