Ultrasonography and autopsy correlation of fetal hypoplastic left heart syndrome

Area of Science:

• Cardiology
• Medical Imaging
• Pediatric Pathology

Background:

• Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect characterized by underdevelopment of the left side of the heart.
• Accurate prenatal diagnosis is crucial for management and counseling.
• Understanding the spectrum of HLHS pathology aids in improving diagnostic accuracy.

Observation:

• This study presents two cases of HLHS diagnosed via ultrasound (US).
• The core pathologies identified were isolated mitral atresia in one case and aortic atresia in the other.
• Both couples opted for pregnancy termination after diagnosis and consented to autopsy.

Findings:

• Correlation between US imaging and autopsy confirmed the antenatal diagnosis of HLHS.
• Autopsy provided a detailed understanding of the cardiac pathology visualized on US.
• Autopsy revealed additional pathological findings beyond the initial US interpretation.

Implications:

• The study underscores the importance of correlating prenatal imaging with post-mortem examination for a comprehensive understanding of HLHS.
• This correlation enhances diagnostic accuracy and provides valuable insights into the spectrum of HLHS pathologies.
• Findings contribute to improved understanding and potential future diagnostic refinements for congenital heart defects.