CLINICAL VIGNETTES A Clinical Case he hyperpolarization-activated cyclic nucleotide-gated (HCN) cation (Na+/K+) Helge Servatius, MD currents (If/Ih) are generated by 4 members of the channel family (HCN1–4). Alessandro Porro, BS 2 3 TThese currents contribute to the pacemaker function in heart and brain. The Stephan A. Pless, PhD HCN4 current is known to play a crucial role in the automaticity of the sinus node André Schaller, PhD through the generation of a slow diastolic depolarization during the phase 4 of the Babken Asatryan, MD cardiac action potential. Thus, it is a crucial channel for appropriate pacemaker activity Hildegard Tanner, MD and conduction system function because it facilitates rapid repolarization. Interestingly, Stefano F. de Marchi, MD HCN4 has been shown to be expressed in essentially the entire heart tissue. Mutations Laurent Roten, MD in HCN4 have been associated mainly with sick sinus syndrome phenotype ; however, Jens Seiler, MD in recent years, a broad spectrum of phenotypes has been reported, including sinus Andreas Haeberlin, MD, 7 8 9,10 bradycardia, inappropriate sinus tachycardia, early-onset atrial fibrillation, atrio- PhD 11,12 13 ventricular block, idiopathic ventricular tachycardia, left ventricular noncompac- Samuel H. Baldinger, MD 14–17 19 tion (LVNC), dilation of the aorta, and
Circulation: Cardiovascular Genetics – Wolters Kluwer Health
Published: Feb 1, 2018
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