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2020, Number 4

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Rev Cubana Med Gen Integr 2020; 36 (4)

Noonan Syndrome and severe aortic regurgitation in an adult patient

Moreno-Loaiza O, Flores-Lovon K, Montes-Madariaga ES

Language: Spanish
References: 13
Page: 1-8
PDF size: 391.69 Kb.


ABSTRACT

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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