A rare HCN4 variant with combined sinus bradycardia, left atrial dilatation, and hypertrabeculation/left ventricular noncompaction phenotype.

doi:10.1016/j.rec.2020.06.019

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Article

A rare HCN4 variant with combined sinus bradycardia, left atrial dilatation, and hypertrabeculation/left ventricular noncompaction phenotype.

Revista espanola de cardiologia (English ed.) - 1 Sept 2021

Alonso-Fernández-Gatta Marta, Gallego-Delgado María, Caballero Ricardo, Villacorta Eduardo, Díaz-Peláez Elena, García-BerrocaL Belén, Crespo-García Teresa, Plata-Izquierdo Beatriz, Marcos-Vadillo Elena, García-Cuenllas Luisa, Barreiro-Pérez Manuel, Isidoro-García María, Tamargo-Menéndez Juan, Delpón Eva, Sánchez Pedro L

Abstract excerpt

INTRODUCTION AND OBJECTIVES: HCN4 variants have been reported to cause combined sick sinus syndrome (SSS) and left ventricular noncompaction (LVNC) cardiomyopathy. This relationship has been proven in few cases and no previous patients have associated left atrial dilatation (LAD). Our objective was to study a familial disorder characterized by SSS, LAD, and hypertrabeculation/LVNC and to identify the underlying...

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PMID: 33008772
DOI: 10.1016/j.rec.2020.06.019

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