Fatal cardiac dysfunction in a child with Williams syndrome

Area of Science:

• Genetics
• Pediatric Cardiology
• Pathology

Background:

• Williams syndrome (WS) is a rare genetic disorder resulting from a 7q11.23 microdeletion.
• WS can be associated with cardiovascular complications, including coronary artery stenosis and sudden cardiac death.
• The mortality rate in WS is generally low, but cardiac issues pose a significant risk.

Observation:

• A 3-month-old infant with supravalvular aortic stenosis and peripheral pulmonary stenosis presented with sudden collapse.
• Postmortem examination revealed cardiac dysfunction, severe fibrotic changes in coronary arteries and aorta, and hippocampal malformation.
• DNA microarray identified concurrent 7q11.23 (WS) and 16p11.2 deletions.

Findings:

• The infant's death was attributed to cardiac dysfunction secondary to Williams syndrome.
• Histological findings showed significant vascular pathology in the coronary arteries and aorta.
• The co-occurrence of 16p11.2 deletion syndrome and dentate gyrus malformation may have contributed to the fatal outcome.

Implications:

• This case underscores the critical risk of cardiac complications in Williams syndrome, even in infancy.
• The presence of multiple microdeletion syndromes may increase the complexity and severity of clinical presentation.
• Further autopsy studies are needed to elucidate the role of microdeletion disorders in sudden infant death.