CASE REPORT article
Front. Cardiovasc. Med.
Sec. Cardiovascular Genetics and Systems Medicine
Volume 12 - 2025 | doi: 10.3389/fcvm.2025.1552417
This article is part of the Research TopicCase Reports in Cardiovascular Genetics and Systems Medicine: 2024View all 15 articles
The Genomic bases of atrial fibrillation in an Ecuadorian patient: a case report
Provisionally accepted
Rafael Tamayo-Trujillo1
Patricia Guevara-Ramírez1
Leonel Meza-Chico1
Santiago Cadena-Ullauri1
Viviana A. Ruiz-Pozo1
Elius Andrés Paz Cruz1
José Luis Laso-Bayas2
Rita Ibarra2
Ana Karina Zambrano1*- 1Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador, Quito, Ecuador
- 2Clinical Cardiac electrophysiologist, Quito, Pichincha, Ecuador
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Atrial fibrillation (AF) is one of the most globally prevalent arrhythmias with multifactorial factors, including environmental and genetic predisposition influences. The present case report describes a 30-year-old Ecuadorian mestizo male diagnosed with persistent AF with an history of hyperthyroidism, later progressing to hypothyroidism post-radioactive iodine therapy. Genomic test identified variants of uncertain significance in the TTN, MYH11, and RAF1 genes, which are associated with cardiovascular diseases but not directly linked to AF.The interplay between thyrotoxicosis and genetic predispositions is discussed as a potential mechanism underlying AF development. This report emphasizes the need for genomic screening and personalized strategies in populations like Ecuador with complex genetic and environmental backgrounds.
Keywords: case report, healthcare, Cardiovascular Diseases, Genomics, Ecuadorian
Received: 28 Dec 2024; Accepted: 09 Jun 2025.
Copyright: © 2025 Tamayo-Trujillo, Guevara-Ramírez, Meza-Chico, Cadena-Ullauri, Ruiz-Pozo, Paz Cruz, Laso-Bayas, Ibarra and Zambrano. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Ana Karina Zambrano, Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador, Quito, Ecuador
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