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[Heart malformations in trisomy 13 and trisomy 18]
M A Lizárraga1, S Mintegui, J Sánchez Echániz
1Servicio de Cardiología Pediátrica, Hospital Infantil de Cruces, Baracaldo, Vizcaya.
Revista Espanola De Cardiologia
|November 1, 1991
Summary
Congenital heart disease is invariably present in children with trisomy 13 and trisomy 18. These cardiac malformations, including ventricular septal defects, are key indicators for fetal ultrasonography screening.
Area of Science:
- Pediatric Cardiology
- Medical Genetics
- Prenatal Diagnosis
Background:
- Congenital heart diseases (CHDs) are common in chromosomal abnormalities.
- Trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) are associated with high rates of cardiac malformations.
Purpose of the Study:
- To analyze the spectrum of congenital heart diseases in patients with trisomy 13 and trisomy 18.
- To evaluate the diagnostic significance of cardiac malformations in these syndromes.
Main Methods:
- Retrospective review of pediatric patients diagnosed with trisomy 13 or 18 between 1973 and 1990.
- Analysis of echocardiographic and necropsy findings for cardiac malformations.
Main Results:
- All 20 patients with trisomy 18 had cardiac malformations, most commonly ventricular septal defect (80%) and valvular anomalies (63%).
- Seven of nine patients with trisomy 13 had cardiac defects, including ventricular septal defect (77%) and valvular disease (100% in necropsy studies).
- Complex CHDs were observed in both trisomy groups, highlighting the severity of cardiac involvement.
Conclusions:
- Cardiac malformations are a consistent feature of trisomy 13 and trisomy 18.
- The presence of specific CHDs should raise suspicion for these chromosomal abnormalities during fetal ultrasonography.