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2018 ; 110
(1
): 84-90
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Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic
Changes - Systematization for Diagnosis in the Clinical Practice
#MMPMID29538527
Oliveira PHA
; Souza BS
; Pacheco EN
; Menegazzo MS
; Corrêa IS
; Zen PRG
; Rosa RFM
; Cesa CC
; Pellanda LC
; Vilela MAP
Arq Bras Cardiol
2018[Jan]; 110
(1
): 84-90
PMID29538527
show ga
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.