Arteriopathies: Too big to be true

Area of Science:

• Pediatric Cardiology
• Medical Genetics
• Vascular Biology

Background:

• Early childhood arteriopathies pose diagnostic challenges due to overlapping symptoms with Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, and hereditary cutis laxa.
• Consanguinity in parents can increase the risk of rare genetic disorders.

Purpose of the Study:

• To report a case of a 2-year-old male with clinical features suggestive of Arterial Tortuosity Syndrome (ATS).
• To emphasize the diagnostic challenges and importance of recognizing ATS in pediatric patients with complex vascular presentations.

Main Methods:

• Clinical evaluation of a 2-year-old male presenting with persistent cough and hypertension.
• Echocardiography to assess aortic dimensions, valve function, and identify coarctation.
• CT angiography to visualize diffuse arterial tortuosity and tracheobronchial compression.

Main Results:

• The patient exhibited coarse facies, pectus excavatum, and mild hepatomegaly.
• Echocardiography revealed massive ascending aortic dilatation (56 mm), aortic insufficiency, and severe coarctation.
• CT angiography showed diffuse thoracic and abdominal aortic tortuosity with tracheobronchial compression, strongly suggesting ATS.

Conclusions:

• The presented case underscores the critical need for a high index of suspicion for Arterial Tortuosity Syndrome in pediatric patients with extreme aortic dilatation and diffuse arterial tortuosity.
• Prompt recognition and diagnosis of ATS are essential for implementing appropriate management strategies, distinct from other connective tissue disorders.