Abstract
Congenital heart defects (CHDs) represent the biggest fraction of morbid congenital anomalies worldwide. Owing to their complex inheritance patterns and multifactorial etiologies, these defects are difficult to identify before complete manifestation. Research over the past two decades has established firmly the role of genetics in the development of these congenital defects. While syndromic CHDs are more straightforward, non-syndromic CHDs are usually characterized by multiple mutations that affect intricate inter-connected developmental pathways. Knock-out and gene expression studies in mice and other genetic models have been performed to elucidate the roles of these implicated genes. Functional analysis has not been able to resolve the complete picture, as increasingly more downstream effects are continuously being assigned to CHD mutant factors. NKX2-5, a cardiac transcription factor, has received much attention for its role in cardiac dysmorphogenesis. Approximately 50 different mutations in this gene have been identified to date, and only a few have been functionally characterized. The mutant NKX2-5 factor can regulate a number of off-targets downstream to facilitate CHD development. This review summarizes the genetic etiology of congenital heart defects and emphasizes the need for NKX2-5 mutation screening.
Highlights
Congenital heart defects (CHDs) are defects in the structure of the heart and great vessels that occur at birth
The rate of affected individuals who survive into adulthood varies with the severity of the disease; these figures vary from 98% of patients with a mild CHD, 96% of patients with a moderate CHD, and only 56% of patients with a severe CHD [2]
The past decade has witnessed a significant amount of research aiming to establish causative factors for various CHDs
Summary
Congenital heart defects (CHDs) are defects in the structure of the heart and great vessels that occur at birth. Most deaths resulting from CHDs occurred during infancy. With great advancements in prenatal diagnosis and corrective strategies, the number of infantile deaths has declined, and more than 3/4 of children with congenital malformations survive into adulthood, including those with complex abnormalities [1]. CHDs are normally found in the pediatric age group (0–15 years), it is not uncommon to see adults with corrected or uncorrected CHDs. Some patients may not manifest any symptoms characteristic of congenital heart diseases, and the condition might not be noticed until complications arise later. Adults who previously underwent corrective procedures for CHDs need to be monitored, as they are at risk for late complications such as arrhythmias, endocarditis, and heart failure, leading to the need for additional surgery [3].
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