Novel SCN5A gene mutation in a patient affected by multifocal ectopic premature Purkinje-related contractions syndrome

Abstract

We report the case of a 36-year-old woman who presented to the emergency department complaining of palpitations and asthenia. Investigations showed frequent ventricular ectopy and severe left ventricular ejection fraction impairment. She was diagnosed with a peculiar condition defined multifocal ectopic premature Purkinje-related contractions syndrome, which in some cases can be associated with a dilated cardiomyopathy phenotype. Genetic testing showed a novel mutation in the SCN5A gene (c.673C > G). In the context of acute left ventricular dysfunction in a young patient, we discuss the clinical presentation of this rare condition and its clinical management, as well as its genetic substrate.

Keywords: Acute heart failure; Dilated cardiomyopathy; Genetic disorders; Multifocal ectopic premature Purkinje-related contractions syndrome; SCN5A gene.