Rare combination in an infant patient: trisomy 7p and tetralogy of fallot

Area of Science:

• Genetics and Pediatrics
• Cardiology

Background:

• Trisomy 7p is a chromosomal abnormality.
• Congenital heart defects (CHDs) are common in infants with genetic syndromes.
• Tetralogy of Fallot (TEF) is a complex CHD.

Purpose of the Study:

• To report a rare case of trisomy 7p associated with Tetralogy of Fallot (TEF).
• To highlight the importance of cardiac screening in infants with trisomy 7p.

Main Methods:

• Case report presentation.
• Review of relevant medical literature.

Main Results:

• An infant patient with trisomy 7p and Tetralogy of Fallot (TEF) is described.
• Common CHDs associated with trisomy 7p include ASD, VSD, and PDA.
• TEF is a rare but possible accompanying CHD.

Conclusions:

• Infants diagnosed with trisomy 7p require thorough echocardiographic examination.
• Screening for CHDs, including the rare possibility of TEF, is crucial for timely management.