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[Down's syndrome with congenital acute leukemia and congenital heart disease]

O V Petrova1,2, O I Murygina1, S A Shashin2

  • 1Federal Center for Cardiovascular Surgery, Astrakhan, Russia.

Khirurgiia
|December 10, 2020
PubMed

Insights

This study reports a rare case of Down syndrome (DS) with congenital heart disease and acute leukemia. The combination of these conditions in children with DS leads to poor outcomes.

Area of Science:

  • Pediatric Cardiology
  • Hematology-Oncology
  • Medical Genetics

Background:

  • Down syndrome (DS) is frequently associated with congenital heart defects (CHDs).
  • Congenital leukemia is a rare but severe complication in infants with DS.
  • The co-occurrence of DS, CHD, and acute leukemia presents significant clinical challenges.

Observation:

  • A retrospective analysis of pediatric patients (0-17 years) treated for CHD between 2010-2018 was conducted.
  • Down syndrome was identified in 5.36% of children with CHD, with common defects including VSD, AVSD, ASD, PDA, and TOF.
  • A rare case of Down syndrome, congenital heart disease, and congenital acute leukemia was documented, with an unfavorable treatment outcome.

Findings:

  • The incidence of DS among children with CHD was 5.36%.
  • Common CHDs in DS patients included ventricular septal defect and atrioventricular septal defect.
  • The combined diagnosis of DS, CHD, and acute leukemia resulted in high morbidity and mortality.

Implications:

  • Early prenatal diagnosis of Down syndrome is crucial for timely management and genetic counseling.
  • The presence of multiple comorbidities in DS significantly increases the risk of adverse outcomes, particularly post-operatively.
  • Further research is needed to improve treatment strategies and outcomes for children with this rare combination of conditions.
Abstract

Keywords:
Down’s syndromeacute leukemiachildren of the first year of lifecongenital heart disease

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