<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Ventricular septal defects (VSDs) are the most common type of heart malformation and may occur like a part of a syndrome or as an isolated form. Clinical manifestations are related to the interventricular flow, which is determined by the size of the defect. Aiming at the identification of genetic causes is important in both syndromic and non-syndromic forms of VSD, to estimate the prognosis and choose the optimal management. Other reasons of the identification of genetic factors in the etiopathogenesis include the assessment of the neurodevelopmental delay risk, recurrence in the offspring, and association with extracardiac malformations. The diagnostic process has been improved, and currently the use of the most suitable and accessible technique in the clinical practice represents a challenge. Additional advantages in genetic testing were brought by next-generation sequencing technique, various testing panels being available in many laboratories.</p></abstract>

Ventricular septal defects (VSDs) are the most common type of heart malformation and may occur like a part of a syndrome or as an isolated form. Clinical manifestations are related to the interventricular flow, which is determined by the size of the defect. Aiming at the identification of genetic causes is important in both syndromic and non-syndromic forms of VSD, to estimate the prognosis and choose the optimal management. Other reasons of the identification of genetic factors in the etiopathogenesis include the assessment of the neurodevelopmental delay risk, recurrence in the offspring, and association with extracardiac malformations. The diagnostic process has been improved, and currently the use of the most suitable and accessible technique in the clinical practice represents a challenge. Additional advantages in genetic testing were brought by next-generation sequencing technique, various testing panels being available in many laboratories.

An Update on the Genetic Aspects in Congenital Ventricular Septal Defect

George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures

Acta Marisiensis - Seria Medica

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

{"article-title":"An Update on the Genetic Aspects in Congenital Ventricular Septal Defect"}

Ventricular septal defects (VSDs) are the most common type of heart malformation and may occur like a part of a syndrome or as an isolated form. Clinical...

An Update on the Genetic Aspects in Congenital Ventricular Septal Defect

Publié en ligne: 15 juil. 2020

Pages: 43 - 49

Reçu: 03 avr. 2020

Accepté: 11 mai 2020

DOI: https://doi.org/10.2478/amma-2020-0012

Mots clés
ventricular septal defects, genetic analysis, updates

© 2020 George Andrei Crauciuc et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

An Update on the Genetic Aspects in Congenital Ventricular Septal Defect

Publié en ligne: 15 juil. 2020

Pages: 43 - 49

Reçu: 03 avr. 2020

Accepté: 11 mai 2020

DOI: https://doi.org/10.2478/amma-2020-0012

Mots clésventricular septal defects, genetic analysis, updates

© 2020 George Andrei Crauciuc et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Mots clés
ventricular septal defects, genetic analysis, updates