Novel SCN5A gene mutation in a patient affected by multifocal ectopic premature Purkinje-related contractions syndrome.
ESC Heart Fail
; 2024 Mar 19.
Article
em En
| MEDLINE
| ID: mdl-38504463
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.
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Bases de dados:
MEDLINE
Idioma:
En
Revista:
ESC Heart Fail
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Itália