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.
Novel SCN5A gene mutation in a patient affected by multifocal ectopic premature Purkinje-related contractions syndrome / N. Ventrella, L. Bianchini, S. Riva, F. Pizzamiglio, M.A. Dessanai, F. Tundo, T. Sattin, F. De Lio, S. Cellucci, C. Tondo. - In: ESC HEART FAILURE. - ISSN 2055-5822. - (2024), pp. 1-6. [Epub ahead of print] [10.1002/ehf2.14677]
Novel SCN5A gene mutation in a patient affected by multifocal ectopic premature Purkinje-related contractions syndrome
C. TondoUltimo
2024
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.File | Dimensione | Formato | |
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