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Atrial standstill in a young patient with ischemic stroke associated with inheritance of a novel HCN4 mutation
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Atrial standstill in a young patient with ischemic stroke associated with inheritance of a novel HCN4 mutation
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Journal Article
Atrial standstill in a young patient with ischemic stroke associated with inheritance of a novel HCN4 mutation
2024
Overview
The cardiac causes predominantly include rheumatic heart disease, mitral valve prolapse and congenital heart disease. Since the patient presented in junctional rhythm, our main differential included either transient causes (new onset atrial fibrillation, transient electrolyte abnormalities (hyperkalaemia), digoxin toxicity, acute myocarditis with atrial involvement, dilated cardiomyopathy) or permanent causes (associated with muscular dystrophies and genetic cardiomyopathies). Atrial standstill is a rare condition with absence of atrial mechanical/electrical activity characterized by “(1) the absence of P waves in the ECG and of A waves in the intracardiac recordings, (2) narrow QRS complexes, (3) evidence of atrial paralysis (absence of A waves in the jugular venous pulse, in the atrial pressure recording and in the mitral Doppler recording), and (4) inability to stimulate the atria.” Germline pathogenic variations in the HCN4 gene have been shown to be associated with familial sick sinus syndrome, specifically the autosomal dominant type 2 variety.5 The mechanism by which sick sinus syndrome due to gene mutations result in atrial standstill have been best described for SCN5A mutation which is the most common genetic cause in paediatric patients with atrial standstill.1 In patients with SCN5A mutations, slowing down of both pacemaker function and conduction of action potential across the SA node-atrium occurs.6 Histological examination of the atrial wall have been described to show presence of dense collagenous tissue, different stages of fibrosis with scattered myocardium.7 A combination of reducing pacemaking activity and atrial fibrosis contributes to the atrial standstill.
