Congenitally corrected transposition of the great arteries in a patient with cor triatriatum: a rare combination

Area of Science:

• Cardiology
• Developmental Biology
• Medical Genetics

Background:

• Congenitally corrected transposition of the great arteries (ccTGA) is a rare congenital heart defect originating from abnormal primitive cardiac tube looping.
• Cor triatriatum is another rare congenital anomaly characterized by faulty incorporation of the common pulmonary vein into the left atrium.

Observation:

• This report details an exceptionally rare instance of a single patient exhibiting both ccTGA and cor triatriatum.
• The co-occurrence of these two distinct congenital cardiac anomalies is highly unusual.

Findings:

• The case highlights the complex interplay of developmental errors leading to multiple cardiac malformations.
• This presentation provides a unique opportunity to study the combined pathophysiology of ccTGA and cor triatriatum.

Implications:

• Understanding the embryological basis for such combined defects can improve diagnostic accuracy for rare congenital heart diseases.
• This case may inform future research into the genetic and environmental factors contributing to complex congenital heart anomalies.