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.

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