Genomic landscape of TTR gene variants associated with amyloidosis in Panama: experience of the National Institute of Medical Genetics and Genomics

Background Amyloidosis comprises a group of diseases characterized by extracellular deposition of misfolded proteins. Among them, transthyretin amyloidosis (ATTR) stands out due to its increasing prevalence and clinical impact. Genetic testing is essential to confirm the diagnosis, establish prognosis and guide treatment. Since most variants associated with ATTR are single-nucleotide changes, next-generation sequencing (NGS) is the method of choice for their detection. Methods We conducted a descriptive, retrospective–prospective, cross-sectional study to identify variants in the TTR gene in patients with suspected ATTR. A total of 41 patients registered at the National Institute of Medical Genetics and Genomics and referred by the Cardiology Service were included. All were analyzed by next-generation sequencing using a 128-gene cardiomyopathy panel. Results Forty-one patients were evaluated, of whom 21 met the criteria for final analysis. Five patients (23.8%) carried variants in the TTR gene, while 16 (76.2%) showed no detectable alterations in TTR . Conclusion Our findings provide a first approximation of the distribution of TTR gene variants in Panamanian patients with suspected transthyretin amyloidosis. The detection of pathogenic variants in this cohort highlights the need to improve diagnostic strategies and to better guide therapeutic decision-making in carriers of these variants.