Article
Defining the cardiovascular phenotype of adults with Alström syndrome.
International journal of cardiology - 15 Aug 2024
Roy Ashwin, Patel Leena, Yuan Mengshi, O'Shea Christopher, Alvior Amor Mia B, Charalambides Maria, Moxon Daniel, Baig Shanat, Bunting Karina V, Gehmlich Katja, Geberhiwot Tarekegn, Steeds Richard P
Abstract excerpt
BACKGROUND: >40% of infants with Alström Syndrome (AS) present with a transient, severe cardiomyopathy in the first months of life, with apparent recovery in survivors. One in five individuals then develop a later-onset cardiomyopathy but wide clinical variability is observed, even within the same family. The rationale for this study is to provide a comprehensive evaluation of the cardiovascular phenotype in...
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