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September 10, 2025Archivos Peruanos de Cardiología y Cirugía CardiovascularOpen Access

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

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Authors

MMMaría Gabriela MattaPDP. DhondeEDEdward Dababneh

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Overview

Case report shows severe sinus node dysfunction in a patient with heterotaxy, highlighting genetic testing results.

Key Points

  • Sinus node dysfunction was observed in a patient with heterotaxy syndrome, necessitating an implantable cardioverter-defibrillator.
  • The patient presented with left atrial isomerism and left ventricular hypertrabeculation, indicating serious cardiac complications.
  • Genetic testing revealed a heterozygous interstitial duplication on chromosome 17q23.2 affecting the MED13 gene, raising questions about its effects.
  • Family history showed multiple cases of heterotaxy, suggesting possible genetic links to conduction disorders.

Cite This Study

Matta et al. (2025) studied this question.

synapsesocial.com/papers/68c23e4fb210217d64791b52https://doi.org/10.47487/apcyccv.v6i3.496
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Case of a Middle-Aged Woman with Sick Sinus Syndrome and Cor Triatriatum Dexter2025 · 1 citations
  2. 2Case Report: Hypertrophic cardiomyopathy meets left ventricular hypertrabeculation: from mixed cardiomyopathy to hypertrophic cardiomyopathy with hypertrabeculation2025
  3. 3Genetic aspects of congenital heart disease in heterotaxy syndrome2025 · 1 citations
  4. 4Trileaflet mitral valve in hypertrophic obstructive cardiomyopathy: A rare anatomical variant requiring surgical intervention2026
  5. 5Prenatal diagnosis of left isomerism: A case report2025