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

Abstract

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.

Clinical orofacial and myofunctional manifestations in an adolescent with Noonan Syndrome: a case report

“…Other clinical alterations were also verified and ratified by the literature, such as triangular face, external palpebral fissure diverted downward, low implantation of the auricular pavilion, with thickening of the auricular helix and short neck and high anterior hair implantation 7,11 , ocular hypertelorism and telecanthus 7,11,19 , nystagmus 20 , short stature 18 , and hearing loss 21 .…”

Pattern of Congenital Heart Diseases in Children with Congenital Malformations: An Echocardiographic study from a Tertiary Health facility in Sokoto, Nigeria

“…[14][15][16] Also, all those with ocular anomalies had CHD which wasmainly PDA which could be due to genetic causes. [17][18] Two of the ocular anomalies were cataracts which is associated with Congenital rubella syndrome of which the cardiac component is PDA. A study in Italy has reported significant association between ocular anomalies and CHD.…”

El adulto con tetralogía de Fallot: Lo que el cardiólogo clínico necesita saber

“…La etiología de TOF es multifactorial y alrededor del 25% de los pacientes presentan alguna alteración cromosómica. Entre las más frecuente se encuentran la microdeleción de la región q11 del cromosoma 22 (15) , seguido de la trisomía 21 (especialmente asociada con el canal atrioventricular) y menos frecuentemente las trisomías 18 y 13, así como el síndrome de CHARGE (16) .…”