Septal defect with polyvalvular involvement: A cardiac imaging hallmark of Trisomy 18

Area of Science:

• Pediatric Cardiology
• Medical Imaging
• Genetics

Background:

• Congenital heart diseases (CHDs) affect nearly 90% of children diagnosed with Trisomy 18.
• Ventricular septal defects (VSDs) and multiple cardiac valve abnormalities are characteristic imaging findings in Trisomy 18.

Purpose of the Study:

• To present echocardiographic findings in an infant with Trisomy 18.
• To highlight the association between Trisomy 18 and complex cardiac malformations.

Main Methods:

• Echocardiography was used to image the heart of an infant with Trisomy 18.
• Detailed analysis of cardiac structure, including the ventricular septum and all four cardiac valves.

Main Results:

• The infant presented with a large ventricular septal defect.
• Abnormalities were identified in all cardiac valves: mitral, tricuspid, aortic, and pulmonary.

Conclusions:

• This case illustrates the significant cardiac burden associated with Trisomy 18.
• Comprehensive echocardiographic evaluation is crucial for diagnosing complex congenital heart disease in infants with Trisomy 18.