ABC | Volume 110, Nº1, January 2018

Review Article 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 Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS – Brazil Mailing Address: Priscila • Av. Princesa Isabel, 370. Postal Code 90040-371, Santana, Porto Alegre, RS – Brazil E-mail: priscila.hao@gmail.com Manuscript received April 20, 2017, revised manuscript August 31, 2017, accepted October 20, 2017 DOI: 10.5935/abc.20180013 Abstract 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. Introduction Congenital heart disease (CHD) is any severe structural abnormality of the heart or intrathoracic vessels that is present at birth. CHDs are considered the most common congenital malformation, significantly contributing to child mortality and morbidity, with an incidence of 4-50 cases per 1,000 births in the world. The etiology of CHDs is still little known, and approximately 15%-20% of the cases have an unknown cause. Chromosomal abnormalities are one of the main known causes of CHDs, affecting 3-18% of the cases. 2 Extracardiac malformations are common in patients with CHDs; defects in intra-abdominal organs and/or defects associated with genetic syndromes are observed in 7-50% of patients, 3 increasing even more the risk of morbidity, mortality as well as of cardiac surgery. Besides, these changes may require treatment, including surgery, regardless of the cardiac problem. Among these, ophthalmological abnormalities are among the main extracardiac malformations. Although a large number of genetic syndromes with heart disease combined with ocular manifestations have been described in the literature, 4-38 they have not been compiled and summarized for consultation and comparison. A systematic understanding of these conditions may provide important clinical implications, contributing to the investigation and detection of abnormalities. Their diagnosis with identification of all associated conditions is crucial not only for the pediatric cardiologist seeing a patient with CHD and who should suspect ophthalmologic abnormalities, but also for the ophthalmologist whomay suspect heart injury according to patients’ clinical conditions. The aim of this study was to systematize available evidence in the literature on different syndromes that may cause CHDs associated with ocular changes, focusing on the types of anatomical and functional changes. 84