Ventricular Fibrillation in a Patient with Pompe Disease: A Cautionary Tale

Abstract

Pompe disease is a rare genetic disorder resulting from a deficiency of the acid α-glucosidase enzyme. Although arrhythmias occur in these patients undergoing general anesthesia, they have not received sufficient emphasis in pediatric cardiology. We report a case of an infant with Pompe disease who experienced ventricular fibrillation during induction of anesthesia.

Perioperative management of patients with genetic multisystem diseases associated with pre‑excitation

“…Ιt follows an autosomal recessive pattern of inheritance, and may present at any time of life, mainly as skeletal muscle weakness and hypotonia [8]. Glycogen deposition on cardiac muscle, nodes and conduction pathways causes left ventricular hypertrophy -with or without outflow obstruction -and serious arrhythmias [8,[23][24][25]. Specifically, the infantile Pompe disease has been strongly associated with pre-excitation [23].…”

“…Characteristic ECG findings include a short PQ (PR) interval and high QRS voltages due to the hypertrophic cardiomyopathy [8,24]. Also, ST-segment depression and T-wave inversion may be seen [24,26].…”

“…Characteristic ECG findings include a short PQ (PR) interval and high QRS voltages due to the hypertrophic cardiomyopathy [8,24]. Also, ST-segment depression and T-wave inversion may be seen [24,26]. Echocardiography can reveal possible dynamic obstruction and assess the ventricular cavity volume; left ventricular mass index values higher than 350 g m -2 seem to correlate with the development of lethal arrhythmias [25][26][27].…”

“…There is no evidenced relation between a specific anaesthetic drug and cardiovascular complications [25]. Nevertheless, haemodynamic instability, especially after anaesthesia induction, has been reported in patients with Pompe disease, who seem to be extremely sensitive to the negative inotropic and vasodilating actions of general anaesthetics [24][25][26][27]. The use of dexmedetomidine (1 μg kg -1 in 10 min, followed by 0.5 μg kg -1 h -1 infusion) has been recently described as useful and haemodynamically stable [28]; it should be noted, though, that this particular patient had no signs suggesting serious cardiac involvement, according to preoperative ECG and echocardiography.…”

“…Most patients with Pompe disease requiring anaesthesia are infants undergoing muscle biopsy or placement of central venous catheters [24][25][26][30][31][32][33]. Wang et al described the anaesthetic management and complications in 9 patients with infantile Pompe disease: seven patients developed ventricular tachycardia, ventricular fibrillation or torsades de pointes, and three of them died [25].…”