Noonan syndrome and severe aortic regurgitation in an adult patient

Moreno-Loaiza O.; Flores-Lovon K.; Montes-Madariaga E.S. · Revista Cubana de Medicina General Integral (2020)

Resumen

Introduction: Noonan syndrome is a congenital disease with an incidence of 1: 1000-2500 live newborns. Due to its clinical variability, it is underdiagnosed in our setting, which does not allow adequate control and follow-up to detect complications resulting from congenital cardiovascular defects. In Peru, there are no case reports on Noonan syndrome and its complications. Objective: To discuss the importance of clinical examination for adequate diagnosis of Noonan syndrome, based on the characteristics of the disease in an adult. Clinical case: We present the case of a 33-year-old male patient with Noonan syndrome, infective endocarditis, and severe aortic regurgitation. Conclusions: The importance of physical examination and the use of diagnostic criteria to diagnose Noonan syndrome are highlighted.

Instituciones: Universidad Nacional de San Agustín de Arequipa