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

• Autores: Matta, María Gabriela, Dhonde, Prithviraj, Dababneh, Edward, Gopalapillai, Vaseekaran, Ng, Kevin, Essack, Nasser Mohamed, Sciberras, Clayton
• Formato: artículo
• Fecha de Publicación: 2025
• Institución: Instituto Nacional Cardiovascular
• Repositorio: Archivos peruanos de cardiología y cirugía cardiovascular
• Lenguaje: inglés
• OAI Identifier: oai:apcyccv.org.pe:article/496
• Enlace del recurso: https://apcyccv.org.pe/index.php/apccc/article/view/496
• Nivel de acceso: acceso abierto
• Materia: Heterotaxy Syndrome; Sick Sinus Syndrome; Ventricular Dysfunction; Genetic Diseases

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.