Beyond the usual spectrum: Atrial septal defect in a Marfan syndrome patient with severe aortic pathologies

Marfan's syndrome is a rare connective tissue disorder which mainly affects cardiovascular, skeletal, and ocular systems. Common cardiovascular manifestation of Marfan's includes aortic root dilatation, aortic regurgitation, and mitral valve prolapse. However, presence of congenital heart defects like atrial septal defect (ASD) is very rare. Here, we report the case of a 22-year-old male with Marfan's syndrome who had an uncommon coexistence of ASD and severe aortic pathologies. The patient had clinical features like tall stature, long arm span, and musculoskeletal abnormalities such as pectus carinatum, pes cavus, and positive wrist and thumb sign, found characteristically in Marfan's syndrome. On cardiovascular examination, hyperdynamic apical impulse and murmurs indicating aortic regurgitation and mitral valve prolapse were revealed. Further on 2D echocardiography, severe aortic root dilatation (67 mm), moderate aortic regurgitation, left ventricular hypokinesia, and a small ASD with left to right shunt (a Qp/Qs ratio of 1.8) were confirmed. This case spotlights the rare conjunction of ASD and severe aortic pathologies in MFS, highlighting the need of a thorough evaluation in management of a disease because early identification and interference are important in management of such a complex phenotype to prevent life-threatening complications and to further improve patient outcomes.