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Severe Aortic Root Dilatation in a Patient With Larsen Syndrome
Ruth Eletta1, Abinash Pandey1, Tarathya Dharmasaputra1
1Pediatrics, Woodhull Medical Center, New York, NY, USA.
Summary
Larsen syndrome, a rare genetic disorder, can cause severe aortic root dilatation and developmental delays in children. This case highlights the importance of early diagnosis and comprehensive management for affected individuals.
Area of Science:
- Genetics
- Pediatrics
- Cardiology
Background:
- Larsen syndrome is a rare autosomal dominant disorder characterized by skeletal abnormalities.
- Key features include joint dislocations, characteristic facial features, and potential cardiac and developmental issues.
Observation:
- A five-year-old female with Larsen syndrome presented with severe aortic root dilatation.
- The patient also exhibited failure to thrive and significant developmental delay.
Findings:
- This case underscores the complex presentation of Larsen syndrome, involving cardiovascular and neurodevelopmental complications.
- Detailed physical findings, advanced imaging, and genetic analysis were crucial for diagnosis.
Implications:
- Early identification and multidisciplinary management are vital for improving outcomes in Larsen syndrome.
- This case contributes to understanding the spectrum of Larsen syndrome manifestations and surgical interventions.
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