ONOFRE RUIZ, PAUL FERNANDO

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Identification of a novel NKX2-5 variant in a young Ecuadorian patient with atrioventricular block and bradycardia: a case report
(Frontiers Media SA, 2025-04-03)
Ruiz Pozo Viviana A.
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CADENA ULLAURI, SANTIAGO ANDRE
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PAZ CRUZ, ELIUS ANDRES
;
Rafael Tamayo-Trujillo
;
GUEVARA RAMIREZ, ALEXANDRA PATRICIA
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. 2025 Ruiz-Pozo, Cadena-Ullauri, Paz-Cruz, Tamayo-Trujillo, Guevara-Ramirez, Onofre-Ruiz and Zambrano.
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Associations of MYPN, TTN, SCN5A, MYO6 and ELN Mutations With Arrhythmias and Subsequent Sudden Cardiac Death: A Case Report of an Ecuadorian Individual
(Elmer Press, Inc., 2023-10)
PAZ CRUZ, ELUIS ANDRES
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RUIZ POZO, VIVIANA ALEJANDRA
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Rita Ibarra-Castillo
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CADENA ULLAURI, SANTIAGO ANDRE
;
Jose Luis Laso-Bayas

ONOFRE RUIZ, PAUL FERNANDO

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