Key result
Two novel HCN4-pore mutations were identified in a patient presenting with sick sinus syndrome, left ventricular noncompaction, mood and anxiety disorders, and ventricular fibrillation.
Case Report (n=1)
Expands the phenotypic spectrum of HCN4 mutations to include ventricular fibrillation alongside sick sinus syndrome and left ventricular noncompaction.
May warrant HCN4 testing in complex cardiac-psychiatric cases; extends the phenotypic spectrum of HCN4 mutations.
VIGNETTEST he hyperpolarization-activated cyclic nucleotide-gated (HCN) cation (Na+/K+) currents (If/Ih) are generated by 4 members of the channel family (HCN1-4). 1These currents contribute to the pacemaker function 2 in heart and brain. 3The HCN4 current is known to play a crucial role in the automaticity of the sinus node through the generation of a slow diastolic depolarization during the phase 4 of the cardiac action potential. 4Thus, it is a crucial channel for appropriate pacemaker activity and conduction system function because it facilitates rapid repolarization.Interestingly, HCN4 has been shown to be expressed in essentially the entire heart tissue. 5Mutations in HCN4 have been associated mainly with sick sinus syndrome phenotype 6 ; however, in recent years, a broad spectrum of phenotypes has been reported, including sinus bradycardia, 7 inappropriate sinus tachycardia, 8 early-onset atrial fibrillation, 9,10 atrioventricular block, 11,12 idiopathic ventricular tachycardia, 13 left ventricular noncompaction (LVNC), [14][15][16][17] dilation of the aorta, and mood and anxiety disorders. 19In the present study, we report a case with sick sinus syndrome, LVNC, mood and anxiety disorders, and ventricular fibrillation (VF) hosting 2 novel HCN4-pore mutations.
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Servatius et al. (2018) conducted a case report in Sick sinus syndrome, left ventricular noncompaction, mood and anxiety disorders, and ventricular fibrillation (n=1). HCN4-pore mutations was evaluated. Two novel HCN4-pore mutations were identified in a patient presenting with sick sinus syndrome, left ventricular noncompaction, mood and anxiety disorders, and ventricular fibrillation.
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