A patient with Phelan-McDermid syndrome and dilation of the great vessels
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Updated: Jan 26, 2026

Author Spotlight: Assessing the Cardiovascular Profile of Patients with Metabolic Syndrome
Published on: September 27, 2024
Emily Deibert1, Melissa Crenshaw2, Michelle S Miller3
1Florida State University College of Medicine Tallahassee Florida.
Abstract:
We present a patient with Phelan-McDermid syndrome, a rare neurodevelopmental disorder caused by a 22q13 deletion, with the previously undescribed finding of progressive dilation of the great arteries. While congenital heart defects have been identified in patients previously, dilation of the great arteries has not been described to our knowledge.
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