JACC. Case reports · 2026
Novel SCN5A Variant in a Patient With Dilated Cardiomyopathy Complicated by Conduction Disorders and Recurrent Ventricular Arrhythmias.
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Shi Shun-Yi, Zhai Li-Shang, Zhu Jing, Tong De-Bing, Mao Yu, Huo Jun-Yu, Yang Ling, Jia Fang
Аннотация
BACKGROUND: Although sodium voltage-gated channel alpha subunit 5 (SCN5A) was traditionally linked to electrophysiological disorders, growing evidence underscores its significant involvement in structural abnormalities.
CASE SUMMARY: A young dilated cardiomyopathy patient presented with a distinctive electro-structural dual phenotype, characterized by progressive left ventricular systolic dysfunction, conduction disorders, and concomitant severe ventricular arrhythmias. Comorbidities included coronary artery disease, chronic kidney disease, obesity, and obstructive sleep apnea. Genetic testing identified a de novo heterozygous nonsense variant in the SCN5A gene. Comprehensive management included guideline-directed medical therapy for heart failure, antiarrhythmic agents, along with comorbidities management and risk factor modification.
CONCLUSIONS: This case highlights the diagnostic complexity of dilated cardiomyopathy in young patients with multiple overlapping etiologies-genetic, ischemic, metabolic. A de novo SCN5A variant may contribute to the arrhythmic phenotype and progressive cardiomyopathy.
TAKE-HOME MESSAGES: Beyond its classical electrophysiological role, SCN5A is increasingly implicated in structural remodeling. This case emphasizes the complexity of genotype-phenotype correlation and gene-environment interaction.
CASE SUMMARY: A young dilated cardiomyopathy patient presented with a distinctive electro-structural dual phenotype, characterized by progressive left ventricular systolic dysfunction, conduction disorders, and concomitant severe ventricular arrhythmias. Comorbidities included coronary artery disease, chronic kidney disease, obesity, and obstructive sleep apnea. Genetic testing identified a de novo heterozygous nonsense variant in the SCN5A gene. Comprehensive management included guideline-directed medical therapy for heart failure, antiarrhythmic agents, along with comorbidities management and risk factor modification.
CONCLUSIONS: This case highlights the diagnostic complexity of dilated cardiomyopathy in young patients with multiple overlapping etiologies-genetic, ischemic, metabolic. A de novo SCN5A variant may contribute to the arrhythmic phenotype and progressive cardiomyopathy.
TAKE-HOME MESSAGES: Beyond its classical electrophysiological role, SCN5A is increasingly implicated in structural remodeling. This case emphasizes the complexity of genotype-phenotype correlation and gene-environment interaction.