Isolated left ventricular noncompaction in a newborn with Pierre-Robin sequence.

Area of Science:

• Cardiology
• Genetics
• Pediatrics

Background:

• Pierre-Robin sequence (PRS) is a congenital condition characterized by micrognathia, glossoptosis, and airway obstruction.
• Congenital heart defects (CHDs) are observed in 20% of PRS patients, with common lesions including VSD, PDA, and ASD.
• Left ventricular noncompaction (LVNC) is a rare cardiomyopathy resulting from abnormal endomyocardial morphogenesis.

Observation:

• This report describes a newborn diagnosed with PRS.
• The patient presented with isolated left ventricular noncompaction (LVNC).
• Genetic analysis, including karyotyping and FISH for 22q11.2 deletion, revealed normal results.

Findings:

• This is the first reported case of isolated LVNC in a patient with Pierre-Robin sequence.
• LVNC, previously associated with various genetic syndromes, was identified in a PRS patient without other known genetic causes.
• Echocardiography is crucial for diagnosing LVNC, which presents with prominent trabeculations and deep intertrabecular recesses.

Implications:

• This case expands the known clinical spectrum associated with PRS.
• Early identification and monitoring of LVNC in PRS patients are essential for managing potential cardiac dysfunction.
• Further research is needed to understand the potential link between PRS and isolated LVNC and its long-term cardiac outcomes.