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

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.

Reference: Novel SCN5A gene mutation in a patient affected by multifocal ectopic premature Purkinje-related contractions syndrome.
Ventrella N, Bianchini L, Riva S, Pizzamiglio F, Dessanai MA, Tundo F, Sattin T, De Lio F, Cellucci S, Tondo C. ESC Heart Fail. 2024 Mar 19.

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