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Cardiac malformations in trisomy-18: a study of 41 postmortem cases
S Van Praagh1, T Truman, A Firpo
1Department of Cardiology, Children's Hospital, Boston, Massachusetts 02115.
Journal of the American College of Cardiology
|June 1, 1989
Summary
Trisomy-18 frequently causes severe cardiac defects, including ventricular septal defects and polyvalvular disease. These specific malformations may enable prenatal diagnosis via echocardiography.
Area of Science:
- Cardiology
- Genetics
- Developmental Biology
Background:
- Trisomy 18 (Edwards syndrome) is a genetic disorder associated with significant congenital anomalies.
- Cardiac malformations are common in trisomy 18 but detailed characterization is crucial for diagnosis and understanding pathogenesis.
Purpose of the Study:
- To comprehensively analyze the spectrum of cardiac malformations in a cohort of trisomy 18 cases.
- To identify specific cardiac features that could aid in the prenatal diagnosis of trisomy 18.
Main Methods:
- Detailed autopsy and karyotypic analysis of 41 cases with trisomy 18.
- Systematic documentation of all cardiac structural abnormalities, including septal defects, valve anomalies, and outflow tract abnormalities.
Main Results:
- All cases exhibited ventricular septal defects. High prevalence of tricuspid (80%), pulmonary (70%), aortic (68%), and mitral (66%) valve anomalies were observed.
- Polyvalvular disease (93%) and subpulmonary infundibulum (98%) were nearly universal. Transposition of great arteries and visceral inversions were notably absent.
- Ventricular septal defects were often associated with anterosuperior conal septal malalignment (61%).
Conclusions:
- Trisomy 18 is characterized by a consistent pattern of cardiac malformations, including specific valvular and septal defects.
- The absence of transposition and inversions, alongside characteristic valvular lesions, suggests potential for two-dimensional echocardiographic diagnosis of fetal trisomy 18.