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 ect...

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Bibliographic Details
Published in:ESC Heart Failure 2024-08, Vol.11 (4), p.2399-2404
Main Authors: Ventrella, Nicoletta, Bianchini, Lorenzo, Riva, Stefania, Pizzamiglio, Francesca, Dessanai, Maria Antonietta, Tundo, Fabrizio, Sattin, Tommaso, De Lio, Francesca, Cellucci, Selene, Tondo, Claudio
Format: Article
Language:English
Subjects:
Ablation
Acute heart failure
Adult
Cardiac arrhythmia
Cardiomyopathy
Cardiovascular disease
Case Report
Dilated cardiomyopathy
DNA - genetics
DNA Mutational Analysis
Ejection fraction
Electrocardiography
Female
Genetic disorders
Genotype & phenotype
Heart failure
Humans
Hyperthyroidism
Morphology
Multifocal ectopic premature Purkinje‐related contractions syndrome
Mutation
NAV1.5 Voltage-Gated Sodium Channel - genetics
Patients
Phenotype
Purkinje Fibers - physiopathology
SCN5A gene
Sinuses
Sodium
Thyroid gland
Ventricular Premature Complexes - diagnosis
Ventricular Premature Complexes - genetics
Ventricular Premature Complexes - physiopathology
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Summary: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.
ISSN:2055-5822
2055-5822
DOI:10.1002/ehf2.14677