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August 13, 2025Revista Portuguesa de CardiologiaOpen Access

Genetic aspects of congenital heart disease in heterotaxy syndrome

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Authors

NRNur Nabihah Ahmad RafiePYPutri YubbuSAShankar Aissvarya

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Overview

Review summarizes gene variants and inheritance patterns associated with congenital heart disease in heterotaxy syndrome, indicating potential clinical implications.

Key Points

  • The review reveals that gene variants significantly contribute to congenital heart disease in heterotaxy syndrome, affecting both cardiac and extracardiac functions.
  • Key findings include that common congenital heart defects linked to heterotaxy syndrome are atrial septal defects and ventricle septal defects.
  • The review analyzes multiple gene variants, including DNAH11 and ZIC3, along with their potential inheritance patterns such as autosomal dominant and recessive.
  • Understanding these genetic aspects may enhance clinical approaches to managing congenital heart disease associated with heterotaxy syndrome.

Cite This Study

Rafie et al. (2025) studied this question.

synapsesocial.com/papers/68a363490a429f797332a224https://doi.org/10.1016/j.repc.2025.05.007
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