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Pattern of congenital heart diseases in Rwandan children with genetic defects

Raissa Teteli1, Annette Uwineza2, Yvan Butera3

  • 1Department of Pediatrics, Kigali University Teaching Hospital, University of Rwanda, Kigali, Rwanda.

The Pan African Medical Journal
|February 28, 2015
PubMed

Insights

Congenital heart diseases (CHDs) are frequently linked to genetic defects in Rwandan children. Routine echocardiography and genetic testing are recommended for early detection in at-risk pediatric patients.

Area of Science:

  • Medical Genetics
  • Pediatric Cardiology
  • Clinical Genetics

Background:

  • Congenital heart diseases (CHDs) are often associated with underlying genetic abnormalities.
  • Understanding the prevalence and patterns of CHD in genetically affected pediatric populations is crucial for diagnosis and management.

Purpose of the Study:

  • To determine the occurrence and specific patterns of congenital heart disease (CHD) association with genetic defects in pediatric patients in Rwanda.
  • To investigate the relationship between genetic defects and the types of CHDs observed in this cohort.

Main Methods:

  • Recruited 125 pediatric patients exhibiting clinical signs suggestive of genetic defects.
  • Conducted echocardiography to assess cardiac structures and function in all participants.
  • Performed standard karyotype analysis to identify chromosomal abnormalities.

Main Results:

  • Congenital heart diseases (CHDs) were prevalent in the majority of pediatric patients with identified genetic defects.
  • Ventricular septal defect was the most common isolated CHD, frequently observed in cases of Down syndrome.
  • Chromosomal abnormalities constituted the majority of genetic diagnoses and were linked to a diverse range of CHDs.

Conclusions:

  • Congenital heart diseases (CHDs) are common among Rwandan pediatric patients with genetic defects.
  • Routine echocardiography and systematic genetic investigations, including karyotyping, are essential for pediatric patients with suspected CHD and genetic abnormalities.
  • Early and comprehensive assessment can improve diagnostic yield and inform clinical management strategies.
Abstract

Keywords:
Congenital heart diseaseRwandagenetic defectspediatric patients

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