Abstract
Congenital heart disease is a group of pathologies characterized by structural malformations of the heart or great vessels. These alterations occur during the embryonic period and are the most frequently observed severe congenital malformations, the main cause of neonatal mortality due to malformation, and the second most frequent congenital malformations overall after malformations of the central nervous system. The severity of different types of congenital heart disease varies depending on the combination of associated anatomical defects. The causes of these malformations are usually considered multifactorial, but genetic variants play a key role. Currently, use of high-throughput genetic technologies allows identification of pathogenic aneuploidies, deletions/duplications of large segments, as well as rare single nucleotide variants. The high incidence of congenital heart disease as well as the associated complications makes it necessary to establish a diagnosis as early as possible to adopt the most appropriate measures in a personalized approach. In this review, we provide an exhaustive update of the genetic bases of the most frequent congenital heart diseases as well as other syndromes associated with congenital heart defects, and how genetic data can be translated to clinical practice in a personalized approach.
Highlights
All affected members carried an alteration in the NKX2-5 gene, a transcription factor involved in correct heart development
Different genetic defects may be related to the cardiac presentation; the SOS1 defect is more related to pulmonary stenosis (PS), atrial septal defect (ASD) is relatively rare in patients with a PTPN11 mutation, and RAF1 mutations are associated with a high prevalence of hypertrophic cardiomyopathy [129,130]
congenital heart disease (CHD) are defects that occur during embryonic development of the heart
Summary
It is important to note that the diagnostic performance of the genetic analysis is not always successful, so that some cases remain without a definitive genetic diagnosis after the study is carried out This situation usually occurs when a genetic alteration is identified but the interpretation is not conclusive, leaving an ambiguous role. Sometimes no genetic alteration is identified as a potential cause of disease after analysis of all known defects; performing a wide-ranging analysis may allow the identification of possible causal but localized alterations in genes/chromosomes not definitively associated with suspected disease. These alterations are again classified with an ambiguous role. Around a third of patients with CHD undergo at least one surgery during the first year of life; the results of these interventions are improving, which allows many patients to lead a relatively normal life and reach adulthood [6]
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