Portuguese | English

Pressione Enter para iniciar a Busca.

Volume 110, Nº 1, January 2018


DOI: http://www.dx.doi.org/10.5935/abc.20180013


Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes – Systematization for Diagnosis in the Clinical Practice

Priscila H. A. Oliveira

Beatriz S. Souza

Eimi N. Pacheco

Michele S. Menegazzo

Ivan S. Corrêa

Paulo R. G. Zen

Rafael F. M. Rosa

Claudia C. Cesa

Lucia C. Pellanda

Manuel A. P. Vilela

Figure 1 – Flowchart of the studies included in this review.


Background: Numerous 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.

Objective: The 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.

Method: A 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.

Results: The 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%).

Conclusion: Due 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. (Arq Bras Cardiol. 2018; 110(1):84-90)

Keywords: Heart Defects, Congenital/genetic; Eye Diseases; Diagnostic Tevhniques, Ophtalmologic; Heart Septal Defects, Atrial; Tetralogy of Fallot.