[Congenital cardiopathy in a patient with Sotos syndrome. Description of a case]

Area of Science:

• Cardiology
• Genetics
• Pediatrics

Background:

• Sotos syndrome, also known as cerebral gigantism, is a genetic disorder characterized by overgrowth and developmental delays.
• Over 200 cases of Sotos syndrome have been documented, with cardiac malformations reported in a small subset.

Observation:

• This report details a specific case of Sotos syndrome.
• The patient presented with concurrent malformations affecting both the aortic and mitral valves.

Findings:

• The case demonstrates a rare co-occurrence of aortic and mitral valve anomalies in Sotos syndrome.
• This finding expands the known spectrum of cardiac manifestations associated with the condition.

Implications:

• Increased awareness of potential cardiac involvement in Sotos syndrome is crucial for early diagnosis and management.
• Further research into the genetic and developmental pathways linking Sotos syndrome to complex cardiac defects is warranted.