[CLINICAL CHARACTERISTICS OF CONGENITAL HEART DISEASES ASSOCIATED WITH CONNECTIVE TISSUE DISPLASIA AT CHILDREN LIVING

M Madiyeva1, T Rymbayeva1

  • 1Republic of Kazakhstan, Semey State Medical University, Department of aftergraduated and additional education.

Georgian Medical News
|December 12, 2017
PubMed

Insights

Congenital heart defects (CHD) are often linked with connective tissue dysplasia, increasing disease severity. This study analyzed these combinations in children, finding high dysplasia rates and specific blood markers associated with CHD.

Area of Science:

  • Pediatrics
  • Cardiology
  • Genetics

Background:

  • The interplay between congenital heart defects (CHD) and connective tissue dysplasia (CTD) is not well-defined.
  • Connective tissue dysplasia can exacerbate the clinical presentation of CHD.

Purpose of the Study:

  • To perform a clinical and laboratory analysis of combined CHD and CTD in children from Semey, Kazakhstan.
  • To identify risk factors for the development of these co-occurring conditions.

Main Methods:

  • Clinical and laboratory examinations of children aged 1-14 with CHD and CTD, healthy children, and their mothers.
  • Assessment of external and visceral signs of dysplasia, blood serum microelement composition, and hemostasis parameters.

Main Results:

  • A high frequency of external and visceral signs of dysplasia was observed in children with CHD, with 88.1% diagnosed with moderate to severe dysplasia (2-3 degrees).
  • Children with CHD exhibited hypofibrinogenemia, hypocalcemia, and hypomagnesemia.
  • Mothers of children with CHD showed a higher prevalence of dysplasia signs compared to controls, suggesting a maternal influence.

Conclusions:

  • Connective tissue dysplasia is a significant factor influencing the clinical outcomes of congenital heart defects.
  • Maternal dysplasia may contribute to the development or severity of CHD in offspring.
  • Further research is warranted to elucidate the genetic and environmental factors involved.

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