The Innocent Delta Wave in Progressive Cardiomyopathy - Culprit vs Bystander.
Ahmad Ghayas Ansari, Sedhupathi Shanmugam, Jyothi Vijay et al.
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Case in brief
A 34-year-old man with a history of palpitations and dyspnea presented with atrial fibrillation and was found to have hypertrophic cardiomyopathy (HCM) and moderate left ventricular systolic dysfunction. His family history included a father with HCM and conduction disease. Electrophysiological studies revealed a fasciculoventricular pathway, and genetic testing identified a pathogenic PRKAG2 variant. Management focused on heart failure and rhythm control, as no arrhythmic substrate was present.
What made this case unusual
The case highlights the association of a PRKAG2 mutation with glycogen-storage cardiomyopathy, presenting as a phenocopy of HCM with ventricular pre-excitation and progressive conduction disease.
Diagnostic / clinical pearl
Clinicians should consider genetic testing for PRKAG2 mutations in patients with HCM-like phenotypes, especially when accompanied by ventricular pre-excitation.
Why it matters
Understanding the genetic basis of cardiomyopathies can guide management and family screening, particularly in cases with atypical presentations.