Key result
Ablation, ICD, and enzyme replacement treat late-onset Pompe disease presenting with metabolic HCM and severe arrhythmias.
Why the study?
To illustrate the difficulties of differential diagnosis and highlight clinical, laboratory, and genetic aspects of late-onset Pompe disease presenting as metabolic hypertrophic cardiomyopathy.
Case Report (n=1)
Highlights the diagnostic challenges and management of severe cardiovascular manifestations, including hypertrophic cardiomyopathy and complex arrhythmias, in late-onset Pompe disease.
May prompt consideration of Pompe disease in metabolic HCM with arrhythmias; leaves open optimal multimodal management strategies.
The article presents a clinical case of metabolic hypertrophic cardiomyopathy against the background of a late-onset form of Pompe disease, illustrating the difficulties of differential diagnostic search for the cause of the disease. The clinical, laboratory and genetic aspects of the diagnosis of Pompe disease are highlighted. The features of laboratory diagnostics, the difficult path to the correct diagnosis and the appointment of enzyme replacement therapy are discussed. Much attention is paid to the clinical symptoms of the disease — the most significant damage to the cardiovascular system, there is no damage to the musculoskeletal sphere. Clinical picture of late Pompe disease is presented: cardiac rhythm and conduction disorders (ventricular preexcitation syndrome — multiple additional atrioventricular fenestrations), unstable ventricular tachycardia, supraventricular tachycardia, sinus node weakness syndrome. Considered approaches to the prevention of sudden cardiac death the patient underwent surgical treatment: radiofrequency ablation, endocardial implantation of a cardioverter defibrillator. Pathogenetic therapy for Pompe disease has been started.
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Leontyeva et al. (2023) conducted a case report in Late-onset Pompe disease with metabolic hypertrophic cardiomyopathy (n=1). Radiofrequency ablation, ICD implantation, and enzyme replacement therapy was evaluated. A clinical case of late-onset Pompe disease presented with metabolic hypertrophic cardiomyopathy and severe arrhythmias, managed with radiofrequency ablation, ICD, and enzyme replacement therapy.
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