Case report of heterotaxy syndrome with sinus node dysfunction and left ventricular hypertrabeculation: clinical and genetic insights

María Gabriela Matta; Prithviraj Dhonde; Edward Dababneh; Vaseekaran Gopalapillai; Kevin Ng; Nasser Mohamed Essack; Clayton Sciberras

doi:10.47487/apcyccv.v6i3.496

Authors

María Gabriela Matta Department of Cardiology, Division of Specialist Medical Services, Gold Coast Hospital and Health Services, Southport, QLD 4215, Australia. https://orcid.org/0000-0002-9651-1109
Prithviraj Dhonde Department of Cardiology, Division of Specialist Medical Services, Gold Coast Hospital and Health Services, Southport, QLD 4215, Australia. https://orcid.org/0009-0004-3251-9744
Edward Dababneh Department of Cardiology, Division of Specialist Medical Services, Gold Coast Hospital and Health Services, Southport, QLD 4215, Australia. https://orcid.org/0009-0009-8947-2963
Vaseekaran Gopalapillai Department of Cardiology, Division of Specialist Medical Services, Gold Coast Hospital and Health Services, Southport, QLD 4215, Australia. https://orcid.org/0009-0003-4428-8085
Kevin Ng Department of Cardiology, Division of Specialist Medical Services, Gold Coast Hospital and Health Services, Southport, QLD 4215, Australia. https://orcid.org/0009-0007-8435-8972
Nasser Mohamed Essack Department of Cardiology, Division of Specialist Medical Services, Gold Coast Hospital and Health Services, Southport, QLD 4215, Australia. https://orcid.org/0009-0002-1762-4146
Clayton Sciberras Department of Cardiology, Division of Specialist Medical Services, Gold Coast Hospital and Health Services, Southport, QLD 4215, Australia. https://orcid.org/0009-0007-2152-2376

DOI:

https://doi.org/10.47487/apcyccv.v6i3.496

Keywords:

Heterotaxy Syndrome, Sick Sinus Syndrome, Ventricular Dysfunction, Genetic Diseases

Abstract

We present the case of a 41-year-old woman with left atrial isomerism, severe sinus node dysfunction, and left ventricular hypertrabeculation, who required implantation of a dual-chamber implantable cardioverter-defibrillator with left bundle branch area pacing. Her family history revealed multiple cases of heterotaxy and conduction disorders. Genetic testing identified a heterozygous interstitial duplication on chromosome 17q23.2 involving the MED13 gene, whose clinical significance has not yet been determined.

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References

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