Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome.

doi:10.1002/ajmg.a.63872

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Article

Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome.

American journal of medical genetics. Part A - 1 Jan 2025

Gluckman Jake, Levy Tess, Friedman Kate, Garces Francesca, Filip-Dhima Rajna, Quinlan Aisling, Iannotti Isabelle, Pekar Margaret, Hernandez Alexandra Lopez, Nava Madison T, Kravets Elijah, Siegel Abigail, Bernstein Jonathan A, Berry-Kravis Elizabeth, Powell Craig M, Soorya Latha Valluripalli, Thurm Audrey, Srivastava Siddharth, Buxbaum Joseph D, Sahin Mustafa, Kolevzon Alexander, Gelb Bruce D

Abstract excerpt

Phelan-McDermid syndrome (PMS) is a rare genetic neurodevelopmental disorder that results from the loss of one functional copy of the SHANK3 gene. While many clinical features of PMS are well-understood, there is currently limited literature on cardiovascular abnormalities in PMS. This report aims to evaluate the prevalence of aortic root dilation (ARD) among individuals with PMS and to understand if underlying...

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PMID: 39257296
DOI: 10.1002/ajmg.a.63872
PMCID: PMC11637948

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