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Dysmorphic Features, Consanguinity and Cytogenetic Pattern of Congenital Heart Diseases: a pilot study from Mansoura

Ahmad Settin1, Hala Almarsafawy, Ahmad Alhussieny

  • 1Genetics and Cardiology Unit, Mansoura University Hospital, Mansoura, Egypt.

International Journal of Health Sciences
|April 9, 2011
PubMed

Insights

Congenital heart disease (CHD) in Egyptian children is linked to family history, consanguinity, and specific dysmorphic features. Early diagnosis can be aided by cytogenetic studies and recognizing these associated signs.

Area of Science:

  • Pediatric Cardiology
  • Medical Genetics
  • Public Health

Background:

  • Congenital heart diseases (CHD) are a significant cause of birth defects with complex inheritance.
  • Understanding associated risk factors and clinical features is crucial for early detection and management.

Purpose of the Study:

  • To investigate dysmorphic features, parental consanguinity, and cytogenetic patterns in Egyptian children with CHD.
  • To identify potential risk factors for CHD in the Mansoura, Egypt population.

Main Methods:

  • A prospective controlled study involving 69 Egyptian children with CHD and 500 controls.
  • Data collection included family history, clinical examination for dysmorphic features, cardiac examination, echocardiography, and cytogenetic studies.

Main Results:

  • CHD cases showed significant associations with positive family history (OR=10.5), maternal conditions/drug use during pregnancy (OR=7.6), and parental consanguinity (OR=3.1).
  • Prominent dysmorphic features included ear anomalies (OR=217.6), eye anomalies (OR=176.6), cleft lip (OR=68.7), polydactyly (OR=37.07), and cleft palate.
  • Chromosomal aberrations were found in 7 cases (10.1%), correlating with dysmorphic features.

Conclusions:

  • Positive family history and consanguinity increase the risk of CHD.
  • Dysmorphic features and cytogenetic studies are valuable indicators for early CHD diagnosis in Egyptian children.
Abstract

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