The genomic bases of atrial fibrillation in an Ecuadorian patient: a case report

Abstract

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: Ecuadorian; cardiovascular diseases; case report; genomics; healthcare.

Figure 1

Ancestry composition of the subject. The subject's ancestry is represented in yellow, with African ancestry depicted in red, Native American ancestry in blue, and European ancestry in light green.

Figure 2

Timeline of clinical events. The figure illustrates the chronological progression of the patient's clinical history, including the diagnosis of hyperthyroidism in 2014, the onset of atrial fibrillation in 2017, radioiodine treatment in 2021, subsequent development of hypothyroidism, genetic testing, and successful electrical cardioversion in 2022 and 2023.

Figure 3

Patient's electrocardiogram. Left atrial enlargement, likely secondary to atrial fibrillation, is evidenced by a broad terminal P wave (>0.12 s) in leads V1 and V2 and a notched P wave in lead D2, indicating left atrial hypertrophy.