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Young adolescent with trisomy 13.

Britt C E Kramer1, Najma S Abdullahi2, Loekie C Ten Have1

  • 1Pediatrics, Reinier de Graaf Gasthuis, Delft, The Netherlands.

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|September 23, 2022
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Summary
This summary is machine-generated.

Adolescent girls with trisomy 13 may develop rare complications like hematocolpos and heart failure. Early screening for cardiac and genital issues is recommended for better survival in these patients.

Keywords:
Cardiovascular medicineCongenital disordersDevelopmental paediatrocsObstetrics and gynaecologyPaediatrics

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Area of Science:

  • Genetics
  • Cardiology
  • Gynaecology

Background:

  • Trisomy 13 (Edwards syndrome) historically has a high mortality rate, with limited data on complications in older patients.
  • Improved pediatric care has led to increased survival rates for individuals with trisomy 13 into adolescence.

Observation:

  • A case report of a young adolescent female with trisomy 13 presenting with two distinct serious conditions: hematocolpos secondary to uterus didelphys and unilateral transverse vaginal septum, and heart failure due to a ruptured sinus of Valsalva aneurysm.
  • These specific complications have not been widely documented in the trisomy 13 population, especially in older individuals.

Findings:

  • The patient's presentation highlights the potential for significant and previously unrecognized genitourinary and cardiovascular complications in adolescents with trisomy 13.
  • This case underscores the importance of considering a broader spectrum of potential health issues beyond the typical concerns associated with trisomy 13.

Implications:

  • Routine cardiac and female genital tract screening, particularly ultrasonography, should be considered for trisomy 13 patients reaching adolescence.
  • Early detection and management of these complications may improve the quality of life and long-term outcomes for individuals with trisomy 13.