Pectus excavatum and MASS phenotype: an unknown association

Area of Science:

• Cardiovascular Medicine
• Genetics
• Thoracic Surgery

Background:

• Severe pectus excavatum (PE) is a chest wall deformity impacting cosmetic appearance and cardiopulmonary function.
• The association between severe PE and connective tissue disorders, beyond Marfan's syndrome (MFS) and Ehlers-Danlos's syndrome (EDS), is under-researched.

Purpose of the Study:

• To investigate the clinical significance of the correlation between severe pectus excavatum and connective tissue disorders.

Main Methods:

• Ninety-two patients with severe PE (ages 6-34) underwent comprehensive clinical, ophthalmological, cardiac, and radiological screening.
• Evaluated features included skin stretch marks, scoliosis, joint hypermobility, echocardiographic findings, spinal defects, and myopia.

Main Results:

• Classical connective tissue disorders (MFS, EDS) were found in only 5% of patients.
• The majority (71%) presented with Mitral valve prolapse, Aortic root enlargement, Skeletal and Skin alterations (MASS) phenotype.
• Skeletal manifestations were most common, followed by skin alterations and mitral valve prolapse.

Conclusions:

• Pectus excavatum is associated with the MASS phenotype, distinct from classical MFS.
• Patients with PE and MASS may require extended follow-up due to potential cardiovascular risks like aneurysms and dissection.