Genetic testing for ventricular septal defect
Ventricular septal defects (VSDs) are the commonest heart malformations and may affect the membranous or the muscular septum. Clinical presentation depends on the amount of interventricular flow, which is determined by the size of the defect and the relative resistances of the pulmonary and systemic...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2018-09-01
|
| Series: | The EuroBiotech Journal |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/ebtj-2018-0037 |
| _version_ | 1819144752372645888 |
|---|---|
| author | Rakhmanov Yeltay Maltese Paolo Enrico Fanelli Francesca Beccari Tommaso Dundar Munis Bertelli Matteo |
| author_facet | Rakhmanov Yeltay Maltese Paolo Enrico Fanelli Francesca Beccari Tommaso Dundar Munis Bertelli Matteo |
| author_sort | Rakhmanov Yeltay |
| collection | DOAJ |
| description | Ventricular septal defects (VSDs) are the commonest heart malformations and may affect the membranous or the muscular septum. Clinical presentation depends on the amount of interventricular flow, which is determined by the size of the defect and the relative resistances of the pulmonary and systemic vascular beds. The prevalence of VSD is estimated at about 5% among infants. Many small malformations present at birth may later undergo spontaneous closure. VSD may have autosomal dominant or autosomal recessive inheritance and may exist as isolated forms or as part of a syndrome. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials. |
| first_indexed | 2024-12-22T12:47:08Z |
| format | Article |
| id | doaj.art-0126ab150e854230858db78f5d306798 |
| institution | Directory Open Access Journal |
| issn | 2564-615X |
| language | English |
| last_indexed | 2024-12-22T12:47:08Z |
| publishDate | 2018-09-01 |
| publisher | Sciendo |
| record_format | Article |
| series | The EuroBiotech Journal |
| spelling | doaj.art-0126ab150e854230858db78f5d3067982022-12-21T18:25:18ZengSciendoThe EuroBiotech Journal2564-615X2018-09-012s1515410.2478/ebtj-2018-0037ebtj-2018-0037Genetic testing for ventricular septal defectRakhmanov Yeltay0Maltese Paolo Enrico1Fanelli Francesca2Beccari Tommaso3Dundar Munis4Bertelli Matteo5MAGI’s Lab, Rovereto, ItalyMAGI’s Lab, Rovereto, ItalyMAGI Euregio, Bolzano, ItalyDepartment of Pharmaceutical Sciences, University of Perugia, Perugia, ItalyDepartment of Medical Genetics, Erciyes University Medical School, Kayseri, TurkeyMAGI’s Lab, Rovereto, ItalyVentricular septal defects (VSDs) are the commonest heart malformations and may affect the membranous or the muscular septum. Clinical presentation depends on the amount of interventricular flow, which is determined by the size of the defect and the relative resistances of the pulmonary and systemic vascular beds. The prevalence of VSD is estimated at about 5% among infants. Many small malformations present at birth may later undergo spontaneous closure. VSD may have autosomal dominant or autosomal recessive inheritance and may exist as isolated forms or as part of a syndrome. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.https://doi.org/10.2478/ebtj-2018-0037ventricular septal defectebtna utility gene test |
| spellingShingle | Rakhmanov Yeltay Maltese Paolo Enrico Fanelli Francesca Beccari Tommaso Dundar Munis Bertelli Matteo Genetic testing for ventricular septal defect The EuroBiotech Journal ventricular septal defect ebtna utility gene test |
| title | Genetic testing for ventricular septal defect |
| title_full | Genetic testing for ventricular septal defect |
| title_fullStr | Genetic testing for ventricular septal defect |
| title_full_unstemmed | Genetic testing for ventricular septal defect |
| title_short | Genetic testing for ventricular septal defect |
| title_sort | genetic testing for ventricular septal defect |
| topic | ventricular septal defect ebtna utility gene test |
| url | https://doi.org/10.2478/ebtj-2018-0037 |
| work_keys_str_mv | AT rakhmanovyeltay genetictestingforventricularseptaldefect AT maltesepaoloenrico genetictestingforventricularseptaldefect AT fanellifrancesca genetictestingforventricularseptaldefect AT beccaritommaso genetictestingforventricularseptaldefect AT dundarmunis genetictestingforventricularseptaldefect AT bertellimatteo genetictestingforventricularseptaldefect |