TY  - JOUR
AU  - Cedeño-Escudero, José A.
AU  - Sotillo-Bent, Luis A.
AU  - Medina-Batista, Evelyn
AU  - Méndez-Rosado, Luis A.
PY  - 2026
DA  - 2026/05/20
TI  - Genetic Variants in Panamanian Patients with Hereditary Cardiomyopathies
JO  - OBM Genetics
SP  - 342
VL  - 10
IS  - 02
AB  - Hereditary Cardiomyopathies (HCs) are defined as genetically determined cardiovascular diseases (CVDs) that frequently exhibit a familial inheritance pattern. These conditions include cardiomyopathies (CMs), arrhythmias (ARs), and other inherited cardiovascular syndromes. 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 admixture characteristic of the country’s population. 91 patients were included, presenting with CM (75 cases), AR (12 cases), or both (11 cases). The overall diagnostic yield was 21% (17/81) for cardiomyopathies and 26.1% (6/23) for arrhythmias. In CM cases, all patients with identified Pathogenic (P) or Likely Pathogenic (LP) variants also had a confirmed family history of the disease. Conversely, CM patients without a family history only presented Variants of Uncertain Significance (VUS) or negative results. In AR cases, P/LP variants were identified in four patients with a family history and in two without. The study also reported the identification of four novel pathogenic genetic variants in the FLNC, TTN, DSC2, and LAMA4 genes. 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.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2602342
DO  - 10.21926/obm.genet.2602342
ID  - Cedeño-Escudero2026
ER  -