Berry syndrome with trisomy 13.

Area of Science:

• Cardiology
• Medical Genetics
• Neonatology

Background:

• Trisomy 13 (Patau syndrome) is a severe genetic disorder associated with multiple congenital anomalies.
• Congenital heart defects are common in trisomy 13, but specific combinations can be rare.
• Berry syndrome is a rare congenital heart malformation characterized by specific aortopulmonary and aortic arch anomalies.

Observation:

• A 2-day-old neonate diagnosed with trisomy 13 presented with a complex set of cardiovascular anomalies.
• The observed defects included a distal aortopulmonary septal defect, aortic origin of the right pulmonary artery, interrupted aortic arch, intact ventricular septum, and a patent ductus arteriosus.
• Diagnosis was confirmed using two-dimensional and color Doppler echocardiography.

Findings:

• This patient represents the 24th reported case of Berry syndrome in the medical literature.
• This is the first reported instance of this specific constellation of cardiovascular defects coexisting with trisomy 13.
• The echocardiographic findings provided a detailed anatomical diagnosis of the complex congenital heart disease.

Implications:

• This case expands the known spectrum of cardiovascular malformations associated with trisomy 13.
• It underscores the importance of comprehensive echocardiographic evaluation in neonates with trisomy 13.
• Further research into the genetic and developmental mechanisms linking trisomy 13 and complex congenital heart disease is warranted.