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Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns
Olga María Diz1,2, Rocio Toro3, Sergi Cesar4
1UGC Laboratorios, Hospital Universitario Puerta del Mar, 11009 Cadiz, Spain.
Insights
Genetic variants are key to congenital heart disease (CHD), a major cause of neonatal mortality. Early diagnosis using advanced genetic technologies enables personalized treatment approaches for these common heart malformations.
Area of Science:
- Cardiology
- Medical Genetics
- Developmental Biology
Background:
- Congenital heart disease (CHD) encompasses structural heart and great vessel malformations during embryonic development.
- CHD is the most common severe congenital malformation and a leading cause of neonatal mortality.
- Severity varies based on anatomical defects; causes are multifactorial with significant genetic contributions.
Purpose of the Study:
- To provide an updated review of the genetic underpinnings of frequent CHDs and associated syndromes.
- To explore the translation of genetic data into clinical practice for personalized CHD management.
Main Methods:
- Review of current literature on genetic bases of congenital heart defects.
- Analysis of high-throughput genetic technologies for variant identification (aneuploidies, deletions/duplications, single nucleotide variants).
Main Results:
- Genetic variants play a crucial role in the etiology of congenital heart disease.
- High-throughput technologies facilitate the identification of various pathogenic genetic alterations.
- Early diagnosis is essential for personalized management strategies.
Conclusions:
- Genetic factors are fundamental to understanding congenital heart disease.
- Advanced genetic diagnostics are vital for early and precise diagnosis.
- Translating genetic findings into clinical practice is key for personalized patient care.
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.
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