Genetic factors contributing to hereditary cardiovascular disorders

Hereditary cardiovascular disorders (HCDs) represent a group of conditions with a significant genetic component, contributing to the development of various heart-related diseases. These disorders are influenced by mutations in specific genes that affect cardiac structure, function, and susceptibility to cardiovascular events. Hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), congenital heart defects, and arrhythmogenic right ventricular cardiomyopathy (ARVC) are some of the prominent HCDs linked to genetic factors. Recent advancements in genomic technologies, such as whole-exome sequencing (WES) and next-generation sequencing (NGS), have facilitated the identification of pathogenic variants and their role in disease pathology. These technologies have not only improved the accuracy of genetic diagnosis but have also enabled the development of precision medicine strategies tailored to individual genetic profiles. Additionally, gene editing tools, such as CRISPR/Cas9, are being explored for potential therapeutic applications, offering hope for correcting specific genetic mutations responsible for HCDs. This study reviews the current understanding of genetic factors contributing to HCDs, explores novel diagnostic and therapeutic approaches, and discusses the challenges associated with translating genetic findings into clinical practice.

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Publication Details

Journal
Journal of Neonatal Surgery
Published
2025-02-06
DOI
https://doi.org/10.52783/jns.v14.1559
Primary Topic
Nutrition, Genetics, and Disease
Type
article
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article

Genetic factors contributing to hereditary cardiovascular disorders

Ritesh Patel, Venu Anand Das Vaishnav
Journal of Neonatal Surgery
Nutrition, Genetics, and Disease
article

Genetic factors contributing to hereditary cardiovascular disorders

Ritesh Patel, Venu Anand Das Vaishnav
article en

Abstract

Hereditary cardiovascular disorders (HCDs) represent a group of conditions with a significant genetic component, contributing to the development of various heart-related diseases. These disorders are influenced by mutations in specific genes that affect cardiac structure, function, and susceptibility to cardiovascular events. Hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), congenital heart defects, and arrhythmogenic right ventricular cardiomyopathy (ARVC) are some of the prominent HCDs linked to genetic factors. Recent advancements in genomic technologies, such as whole-exome sequencing (WES) and next-generation sequencing (NGS), have facilitated the identification of pathogenic variants and their role in disease pathology. These technologies have not only improved the accuracy of genetic diagnosis but have also enabled the development of precision medicine strategies tailored to individual genetic profiles. Additionally, gene editing tools, such as CRISPR/Cas9, are being explored for potential therapeutic applications, offering hope for correcting specific genetic mutations responsible for HCDs. This study reviews the current understanding of genetic factors contributing to HCDs, explores novel diagnostic and therapeutic approaches, and discusses the challenges associated with translating genetic findings into clinical practice.

Journal of Neonatal SurgeryVol. 14(1S)
Openalex Percentile: Top 96%
Nutrition, Genetics, and Disease
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