The pediatric research groups in Brazil have relevant scientific production, including works published in international publications, and are concentrated in regions with higher socioeconomic index. Most groups registered in CNPq started their activity in the last five years (46%), reflecting the recent growth of scientific production in this area.
BackgroundNumerous genetic syndromes associated with heart disease and ocular manifestations
have been described. However, a compilation and a summarization of these syndromes
for better consultation and comparison have not been performed yet.ObjectiveThe objective of this work is to systematize available evidence in the literature
on different syndromes that may cause congenital heart diseases associated with
ocular changes, focusing on the types of anatomical and functional changes.MethodA systematic search was performed on Medline electronic databases (PubMed, Embase,
Cochrane, Lilacs) of articles published until January 2016. Eligibility criteria
were case reports or review articles that evaluated the association of ophthalmic
and cardiac abnormalities in genetic syndrome patients younger than 18 years.ResultsThe most frequent genetic syndromes were: Down Syndrome, Velo-cardio-facial /
DiGeorge Syndrome, Charge Syndrome and Noonan Syndrome. The most associated
cardiac malformations with ocular findings were interatrial communication (77.4%),
interventricular communication (51.6%), patent ductus arteriosus (35.4%),
pulmonary artery stenosis (25.8%) and tetralogy of Fallot (22.5%).ConclusionDue to their clinical variability, congenital cardiac malformations may progress
asymptomatically to heart defects associated with high morbidity and mortality.
For this reason, the identification of extra-cardiac characteristics that may
somehow contribute to the diagnosis of the disease or reveal its severity is of
great relevance.
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