Thoracic coarctation associated with neurofibromatosis

Area of Science:

• Pediatric Cardiology
• Vascular Biology
• Genetics

Background:

• Neurofibromatosis is a genetic disorder associated with various complications.
• Hypertension is a known complication, often linked to renal artery stenosis.
• Abdominal coarctation has been previously reported in neurofibromatosis patients.

Purpose of the Study:

• To report a rare case of a child with neurofibromatosis presenting with hypertension.
• To highlight the co-occurrence of renal artery stenosis, abdominal coarctation, and a novel finding of thoracic coarctation.
• To emphasize the importance of considering thoracic coarctation in neurofibromatosis patients with hypertension.

Main Methods:

• Case report of a pediatric patient.
• Clinical evaluation including imaging studies to assess vascular abnormalities.
• Review of existing literature on neurofibromatosis and associated cardiovascular complications.

Main Results:

• The patient presented with hypertension, renal artery stenosis, and abdominal coarctation.
• Thoracic coarctation was identified, a finding not previously described in association with neurofibromatosis.
• Rib notching was observed, which can be associated with neurofibromatosis but also warrants consideration for coarctation.

Conclusions:

• Neurofibromatosis can present with a spectrum of vascular anomalies including rare forms of coarctation.
• Thoracic coarctation should be considered in the differential diagnosis of hypertension in children with neurofibromatosis, even with apparent rib notching.
• Early diagnosis and management of these vascular complications are crucial for pediatric patients.