Identification of a novel NKX2-5 variant in a young Ecuadorian patient with atrioventricular block and bradycardia: a case report
Cardiovascular diseases (CVDs) are the leading global cause of mortality, with South America reflecting similar trends. Among congenital heart diseases (CHDs), atrioventricular (AV) block is included. AV block is a condition defined by abnormal electrical signal transmission between the atria and ve...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-04-01
|
| Series: | Frontiers in Cardiovascular Medicine |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2025.1552423/full |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849766658930900992 |
|---|---|
| author | Viviana A. Ruiz-Pozo Santiago Cadena-Ullauri Elius Paz-Cruz Rafael Tamayo-Trujillo Patricia Guevara-Ramirez Paul Onofre-Ruiz Ana Karina Zambrano |
| author_facet | Viviana A. Ruiz-Pozo Santiago Cadena-Ullauri Elius Paz-Cruz Rafael Tamayo-Trujillo Patricia Guevara-Ramirez Paul Onofre-Ruiz Ana Karina Zambrano |
| author_sort | Viviana A. Ruiz-Pozo |
| collection | DOAJ |
| description | Cardiovascular diseases (CVDs) are the leading global cause of mortality, with South America reflecting similar trends. Among congenital heart diseases (CHDs), atrioventricular (AV) block is included. AV block is a condition defined by abnormal electrical signal transmission between the atria and ventricles. Advances in Next-Generation Sequencing (NGS) have facilitated the identification of genetic variants associated with cardiac disorders, such as AV block. Notably, the transcription factor NKX2-5 plays a crucial role in heart development and function, and mutations in this gene have been linked to bradycardia and AV block. This article describes the case report of a young Ecuadorian child diagnosed with AV block and bradycardia. Furthermore, by performing NGS, a missense variant, p.(Tyr274Ser) substitution, in the NKX2-5 gene has been identified and classified as a variant of uncertain significance (VUS). Ancestral analysis has shown a genetic background of 16.5% African, 45.9% European, and 37.6% Native American. These findings suggest a potential association between the identified NKX2-5 variant and the patient's phenotype, highlighting the importance of integrating genomic and ancestral analyses to advance personalized diagnostics and therapeutics in diverse populations, such as the mestizo population. |
| format | Article |
| id | doaj-art-4a3d955b688749c69435e4c255b8d554 |
| institution | DOAJ |
| issn | 2297-055X |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj-art-4a3d955b688749c69435e4c255b8d5542025-08-20T03:04:30ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2025-04-011210.3389/fcvm.2025.15524231552423Identification of a novel NKX2-5 variant in a young Ecuadorian patient with atrioventricular block and bradycardia: a case reportViviana A. Ruiz-Pozo0Santiago Cadena-Ullauri1Elius Paz-Cruz2Rafael Tamayo-Trujillo3Patricia Guevara-Ramirez4Paul Onofre-Ruiz5Ana Karina Zambrano6Universidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigación Genética y Genómica, Quito, EcuadorUniversidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigación Genética y Genómica, Quito, EcuadorUniversidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigación Genética y Genómica, Quito, EcuadorUniversidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigación Genética y Genómica, Quito, EcuadorUniversidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigación Genética y Genómica, Quito, EcuadorUniversidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Quito, EcuadorUniversidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigación Genética y Genómica, Quito, EcuadorCardiovascular diseases (CVDs) are the leading global cause of mortality, with South America reflecting similar trends. Among congenital heart diseases (CHDs), atrioventricular (AV) block is included. AV block is a condition defined by abnormal electrical signal transmission between the atria and ventricles. Advances in Next-Generation Sequencing (NGS) have facilitated the identification of genetic variants associated with cardiac disorders, such as AV block. Notably, the transcription factor NKX2-5 plays a crucial role in heart development and function, and mutations in this gene have been linked to bradycardia and AV block. This article describes the case report of a young Ecuadorian child diagnosed with AV block and bradycardia. Furthermore, by performing NGS, a missense variant, p.(Tyr274Ser) substitution, in the NKX2-5 gene has been identified and classified as a variant of uncertain significance (VUS). Ancestral analysis has shown a genetic background of 16.5% African, 45.9% European, and 37.6% Native American. These findings suggest a potential association between the identified NKX2-5 variant and the patient's phenotype, highlighting the importance of integrating genomic and ancestral analyses to advance personalized diagnostics and therapeutics in diverse populations, such as the mestizo population.https://www.frontiersin.org/articles/10.3389/fcvm.2025.1552423/fullcase reportcardiovascular diseasegeneticsgenomicshealthcare |
| spellingShingle | Viviana A. Ruiz-Pozo Santiago Cadena-Ullauri Elius Paz-Cruz Rafael Tamayo-Trujillo Patricia Guevara-Ramirez Paul Onofre-Ruiz Ana Karina Zambrano Identification of a novel NKX2-5 variant in a young Ecuadorian patient with atrioventricular block and bradycardia: a case report Frontiers in Cardiovascular Medicine case report cardiovascular disease genetics genomics healthcare |
| title | Identification of a novel NKX2-5 variant in a young Ecuadorian patient with atrioventricular block and bradycardia: a case report |
| title_full | Identification of a novel NKX2-5 variant in a young Ecuadorian patient with atrioventricular block and bradycardia: a case report |
| title_fullStr | Identification of a novel NKX2-5 variant in a young Ecuadorian patient with atrioventricular block and bradycardia: a case report |
| title_full_unstemmed | Identification of a novel NKX2-5 variant in a young Ecuadorian patient with atrioventricular block and bradycardia: a case report |
| title_short | Identification of a novel NKX2-5 variant in a young Ecuadorian patient with atrioventricular block and bradycardia: a case report |
| title_sort | identification of a novel nkx2 5 variant in a young ecuadorian patient with atrioventricular block and bradycardia a case report |
| topic | case report cardiovascular disease genetics genomics healthcare |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2025.1552423/full |
| work_keys_str_mv | AT vivianaaruizpozo identificationofanovelnkx25variantinayoungecuadorianpatientwithatrioventricularblockandbradycardiaacasereport AT santiagocadenaullauri identificationofanovelnkx25variantinayoungecuadorianpatientwithatrioventricularblockandbradycardiaacasereport AT eliuspazcruz identificationofanovelnkx25variantinayoungecuadorianpatientwithatrioventricularblockandbradycardiaacasereport AT rafaeltamayotrujillo identificationofanovelnkx25variantinayoungecuadorianpatientwithatrioventricularblockandbradycardiaacasereport AT patriciaguevararamirez identificationofanovelnkx25variantinayoungecuadorianpatientwithatrioventricularblockandbradycardiaacasereport AT paulonofreruiz identificationofanovelnkx25variantinayoungecuadorianpatientwithatrioventricularblockandbradycardiaacasereport AT anakarinazambrano identificationofanovelnkx25variantinayoungecuadorianpatientwithatrioventricularblockandbradycardiaacasereport |