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Case Report
Genetic insights of pediatric sudden cardiac death: A case report of anomalous left coronary artery originating from the right sinus of Valsalva
1 Department of Pathology at Texas Tech Health Sciences Center, El Paso, TX, USA
2 El Paso County Office of the Medical Examiner, El Paso, TX, USA
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Alejandro Partida Contreras
Department of Pathology at Texas Tech Health Sciences Center, 130 Rick Francis, MSB I Annex, Room 110, El Paso, TX,
USA
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Article ID: 100094Z11AC2025
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Contreras AP, Rascon MA. Genetic insights of pediatric sudden cardiac death: A case report of anomalous left coronary artery originating from the right sinus of Valsalva. J Case Rep Images Pathol 2025;11(2):11–16.ABSTRACT
Introduction: Sudden cardiac death (SCD) in children is an uncommon but devastating occurrence. It is most often associated with congenital or acquired cardiac conditions such as cardiomyopathies, structural coronary anomalies, arrhythmias, and, less frequently, trauma-related events like commotio cordis. Coronary artery anomalies are identified in up to 10% of pediatric SCD cases and are usually detected at autopsy. Anomalous origin of the left coronary artery (LCA) from the right sinus of Valsalva (RSV) represents a particularly high-risk variant, especially during physical exertion.
Case Report: We describe a 15-year-old Hispanic male who collapsed during physical activity. He had no prior medical or family history, and no substance use. Autopsy revealed an anomalous LCA originating from the RSV. Next-generation sequencing identified a Likely Pathogenic SCN1A mutation and Variants of Uncertain Significance (VUS) in LAMA4 and TRPM4, classified according to ACMG guidelines.
Conclusion: This case highlights the importance of comprehensive cardiac and genetic evaluation in pediatric sudden cardiac death. Morphologic assessment combined with molecular testing provides insights into the mechanisms of disease, improves risk stratification, and informs genetic counseling for at-risk family members.
Keywords: Cardiac death, Coronary artery anomalies, Forensic pathology, Sudden cardiac death
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Acknowledgments
We thank Emily Duncanson, M.D. at the Jesse E. Edwards Registry of Cardiovascular Disease in Minneapolis, MN, USA, for providing the cardiopathologic consultation and the gross examination image on this case.
Author ContributionsAlejandro Partida Contreras - Conception of the work, Design of the work, Acquisition of data, Analysis of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Mario A Rascon - Conception of the work, Design of the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Guarantor of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2025 Alejandro Partida Contreras et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
