From Abraham Lincoln to Michael Phelps: Concerning a Chest Pain Case…

Abstract

The Marfan syndrome (MS) is a genetic disorder, mostly autosomal dominant, affecting the connective tissue. The mutations
in the fibrillin-1 gene occur in 90% of cases. Aortic dissection/ dilation and lens luxation are cardinal manifestations of MS. We
present the case of a 35-year-old woman, assessed in an Internal Medicine clinic for an oppressive, recurrent and intense
retrosternal discomfort, episodic, radiating to the epigastrium, worsening with cough and supine position, relieved by non-steroidal anti-inflammatory drugs and anteflexion, interpreted as dyspepsia given the normality of electrocardiography, cardiac
biomarkers, chest radiogram and transthoracic echocardiogram (routinely performed 4 months earlier). She had a personal history of bilateral lens luxation. Under the suspicion of myopericarditis, an urgent transthoracic echocardiogram was
requested which revealed acute type A aortic dissection and severe aortic regurgitation. She was immediately transferred
to the Cardiothoracic Surgery department of a Central Hospital and underwent a Bentall procedure. MS has a systemic
involvement, often affecting the aorta and heart valves, osteoarticular, ocular and respiratory tract. The wide phenotypic
variability often impairs early recognition.