Comorbidities in situs inversus totalis: A hospital-based study

Area of Science:

• Pediatric Medicine
• Genetics and Genomics
• Congenital Disorders

Background:

• Situs inversus totalis (SIT) is a rare congenital condition where major visceral organs are mirrored.
• Comprehensive assessment of comorbidities in pediatric SIT cases is limited.
• Understanding associated conditions is vital for patient management.

Purpose of the Study:

• To investigate the spectrum and prevalence of comorbid diseases in children with SIT.
• To highlight common co-occurring conditions in pediatric SIT.

Main Methods:

• Retrospective observational study of children diagnosed with SIT.
• Inclusion criteria: Children aged 18 years or younger with SIT.
• Confirmation of situs status and comorbidities by two independent physicians using medical records.

Main Results:

• 155 children with SIT were analyzed (median age 1.24 years).
• Comorbidities were present in 73.5% of children.
• Most frequent comorbidities included congenital heart defects (46.5%), primary ciliary dyskinesia (12.3%), and renal disorders (7.7%).
• Multiple system anomalies affected 16.1% of patients.

Conclusions:

• Children with SIT often present with comorbidities affecting multiple organ systems, especially cardiovascular and respiratory systems.
• Thorough evaluation for congenital and acquired abnormalities is recommended for children with SIT.