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Severe aortic root dilatation in infantile Marfan syndrome

Renita A Thomas1, Chikamuche T Anyanwu1, Maria Blazo1,2

  • 1College of Medicine, Texas A&M University Health Science CenterBryanTexas.

Proceedings (Baylor University. Medical Center)
|October 29, 2019
PubMed

Insights

Marfan syndrome can cause severe aortic root dilation in infants, increasing mortality risk. Early diagnosis and management are crucial for affected children, especially siblings.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Marfan syndrome is a genetic disorder affecting connective tissue.
  • Cardiovascular complications, particularly aortic root dilatation, are a major cause of mortality in Marfan syndrome, especially in children.

Observation:

  • Two siblings with genetically confirmed classical Marfan syndrome presented with severe infantile aortic root dilatation.
  • This familial presentation highlights a potential genetic predisposition within families.

Findings:

  • Severe infantile aortic root dilatation can be a presenting feature of classical Marfan syndrome.
  • Early recognition of cardiovascular manifestations is critical for timely intervention.

Implications:

  • Prompt diagnosis and management are essential for improving long-term outcomes in pediatric Marfan syndrome.
  • Understanding familial patterns of cardiovascular involvement aids in risk stratification and family screening.
  • Therapeutic strategies for infantile aortic root dilatation in Marfan syndrome require careful consideration.

Keywords:
Aortic valve dilatationFBN1classical Marfan syndromefibrillinneonatal Marfan syndrome

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