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Revista Cubana de Medicina General Integral
On-line version ISSN 1561-3038
Abstract
MORENO-LOAIZA, Oscar; FLORES-LOVON, Kevin and MONTES-MADARIAGA, Elizbet Susan. Noonan Syndrome and Severe Aortic Regurgitation in an Adult Patient. Rev Cubana Med Gen Integr [online]. 2020, vol.36, n.4 Epub Dec 01, 2020. ISSN 1561-3038.
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.
Keywords : Noonan syndrome; endocarditis; aortic valve regurgitation.