DEVELOPMENTAL CARDIAC ANOMALIES IN CHILDREN WITH EDWARDS SYNDROME: A COMPREHENSIVE REVIEW
Abstract
Introduction and objective: Edwards Syndrome, also known as Trisomy 18, is the second most common autosomal trisomy following Down Syndrome. This chromosomal disorder is characterized by the presence of a third copy of chromosome 18, in contrast to the usual two. The condition is associated with a wide spectrum of severe congenital anomalies, significant developmental delays, and a high rate of fetal loss and infant mortality. Therefore, a comprehensive synthesis of these associated developmental anomalies is crucial for accurate prenatal counseling, clinical guidance, and postnatal management. The primary objective of this comprehensive review is to systematically identify, collate, and synthesize the existing literature regarding the range and prevalence of congenital heart defects in children diagnosed with Edwards Syndrome. Recognizing that cardiac anomalies are a cardinal feature and a leading cause of mortality in this condition, this review aims to provide a detailed, evidence-based overview of these specific manifestations. Ultimately, this focused analysis seeks to enhance clinical understanding of the cardiovascular complications in Edwards Syndrome and inform targeted management strategies.
Brief description of the state of knowledge: Edwards Syndrome (Trisomy 18) is characterized by a high burden of congenital anomalies, with cardiac defects affecting the vast majority of patients and serving as a primary determinant of survival. Historically regarded as a uniformly lethal condition requiring only palliative care, the clinical perspective is evolving. Recent data indicate that cardiac interventions may offer survival benefits, challenging traditional non-interventional paradigms and necessitating an updated understanding of the cardiovascular phenotype.
Methods: A systematic literature review was performed by searching major biomedical databases (PubMed, Google Scholar, Elicit) using a combination of keywords and MeSH terms, including "Edwards Syndrome" and "congenital abnormalities." Inclusion criteria prioritized peer-reviewed articles such as case series, observational studies, and systematic reviews. Data extraction focused on the types, frequency, and systemic impact of anomalies, as well as postnatal developmental outcomes. The collected data were then synthesized to create a comprehensive syndrome profile.
Conclusions: The clinical paradigm for Edwards Syndrome is shifting from a uniform designation of lethality toward a personalized, multidisciplinary model. Accurate prenatal diagnosis via fetal echocardiography is essential for early risk stratification. Contemporary management requires a balanced approach integrating palliative care with the option of active cardiac intervention. Consequently, parental counseling must emphasize shared decision-making, providing families with evidence-based data on potential surgical outcomes to optimize the quality of life for the affected child.
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