Congenital heart defects in Sotos sequence

Area of Science:

• Genetics
• Pediatrics
• Cardiology

Background:

• Sotos sequence is a genetic overgrowth disorder with variable clinical manifestations.
• Congenital heart defects (CHDs) are known to occur in some genetic syndromes, but their prevalence in Sotos sequence requires further investigation.

Purpose of the Study:

• To determine the prevalence of congenital heart defects in patients with Sotos sequence.
• To investigate the potential impact of CHDs on growth patterns in Sotos sequence.

Main Methods:

• Retrospective chart review of 10 patients diagnosed with Sotos sequence.
• Detailed analysis of cardiac anomalies and anthropometric measurements (head circumference, weight, length).

Main Results:

• Five out of 10 patients (50%) presented with congenital heart defects.
• Specific CHDs identified included secundum atrial septal defect (2 patients), patent ductus arteriosus with mitral valve regurgitation (1 patient), tricuspid atresia with pulmonary atresia (1 patient), and ventricular septal defect (1 patient).
• Patients with CHDs exhibited less accelerated increases in head circumference and weight gain compared to those without CHDs, while linear growth was similar.

Conclusions:

• The prevalence of congenital heart defects in Sotos sequence may be significantly underestimated in existing literature.
• Congenital heart defects appear to influence specific growth parameters in Sotos sequence patients, warranting closer monitoring.