Genetic Variants in Panamanian Patients with Hereditary Cardiomyopathies

What is it about?

In Panama, the national incidence of Hereditary Cardiomyopathies remains unknown. The objective was to identify genetic variants in Panamanian patients diagnosed with HCs or cardiac arrhythmias and subsequently to identify carrier families to provide genetic counseling. This was an observational, descriptive, cross-sectional study. Patients clinically diagnosed with HCs or ARs were referred from various cardiology and pediatric services between 2019 and 2023. Next-Generation Sequencing (NGS) was performed using a targeted panel of 128 associated genes. The sequencing was conducted on the Illumina MiniSeq platform using a capture-based technology assay. The sample consisted predominantly of patients from urban areas, with no ethnic distinctions made due to the high degree of genetic

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Photo by Robina Weermeijer on Unsplash

Photo by Robina Weermeijer on Unsplash

Why is it important?

The identification of P/LP genetic variants associated with HCs in the Panamanian population has facilitated appropriate genetic counseling for affected families and enabled the active screening and identification of asymptomatic carriers within these high-risk lineages, which is essential for early intervention and prevention strategies.

Perspectives