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Novel use of trametinib for treatment of atrial arrhythmia in absence of cardiomyopathy in a patient with Costello syndrome

Published online by Cambridge University Press:  06 January 2025

Andrew S. Kato Open the ORCID record for Andrew S. Kato [Opens in a new window] ,
Natalie S. Shwaish ,
Eugene Y. Hwang ,
Ravi Mandapati  and
Jesse W. Lee
Andrew S. Kato*
Affiliation:
Department of Pediatrics, Loma Linda Children’s Hospital, Loma Linda, CA, USA
Natalie S. Shwaish
Affiliation:
Department of Pediatrics, Division of Cardiology, Loma Linda Children’s Hospital, Loma Linda, CA, USA
Eugene Y. Hwang
Affiliation:
Pediatric Cardiology, Kaiser Permanente Fontana Medical Center. Fontana, CA, USA
Ravi Mandapati
Affiliation:
Department of Pediatrics, Division of Cardiology, Loma Linda Children’s Hospital, Loma Linda, CA, USA
Jesse W. Lee
Affiliation:
Department of Pediatrics, Division of Cardiology, Loma Linda Children’s Hospital, Loma Linda, CA, USA
*
Corresponding author: Andrew S. Kato; Email: akato@llu.edu
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Abstract

We describe a case of novel use of trametinib in treating arrythmia without concomitant cardiomyopathy. Our patient is a two-year-old female born with Costello syndrome due to heterozygous mutations in the HRAS gene c34 G > T p (G12C). Shortly after birth, she was diagnosed with multifocal atrial tachyarrhythmia. Her imaging studies have shown no hypertrophy or CHD. There was poor arrhythmia control despite triple antiarrhythmic therapy. Trametinib, a MEK1 and MEK2 inhibitor, was used in treating her isolated atrial arrythmia, allowing her to wean off other antiarrhythmics. Other case reports have shown trametinib to benefit certain RASopathy patients with lymphatic abnormalities, hypertrophic cardiomyopathy, and concurrent arrhythmias. This case demonstrates effective treatment of isolated arrhythmia without cardiomyopathy, broadening the potential indications for use of trametinib in certain RASopathy patients.

Keywords

RASopathyCostello syndromeNoonan syndromeHRAS mutationTrametinibAtrial arrythmia
Type
Brief Report
Information
Cardiology in the Young , First View , pp. 1 - 3
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Copyright
© The Author(s), 2025. Published by Cambridge University Press

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References

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