Pectus excavatum as debut of Marfan syndrome: case report

case report

Abstract

Introduction: Marfan syndrome (MS) is an autosomal dominant disorder characterized by connective tissue disorders; in which tall stature, elongated limbs and fingers are associated with abnormalities in the cardiovascular, skeletal, and ocular systems. Its diagnosis is based on the Ghent criteria, which combines clinical findings and hereditary factors. Its main catastrophic complication is dilation and dissection of the aorta. Analyzing a clinical case, it is hoped to collect the main characteristics related to this important pathology that provide key arguments to the medical literature for an early diagnosis and timely follow-up that reduce the morbidity and mortality of this disease.

Clinical case: a male patient who was monitoring by Internal Medicine was presented in this medical case, due to his pectus excavatum (PE), he also presents skin striae, wrist and thumb signs, dorsal scoliosis, reduced proportion of the upper / lower segment, stroke index / increased stature and mitral valve prolapse, adding a total score of 8 on the Ghent scale confirms the diagnosis of MS.

Conclusions: MS presents a heterogeneous clinical picture, whose diagnosis is based on the Ghent criteria. There is a high risk of aortic complications, with a high mortality rate, so early diagnosis is essential.