Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.

doi:10.1002/jimd.12826

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Article

Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.

Journal of inherited metabolic disease - 1 Jan 2025

Holubova Veronika, Barone Rita, Grunewald Stephanie, Tesařová Markéta, Hansíková Hana, Augustínová Jana, Sykut-Cegielska Jolanta, De Nictolis Francesca, Diaz-Moreno Unai, Elangovan Ramyia, Epifani Florencia, Gasperini Serena, Jansen Mirian, Lefeber Dirk, Maksym-Gasiorek Dorota, Diego Martinelli, Ounap Katrin, Pettinato Fabio, Põder Haide, Rymen Daisy, Vals Mari-Anne, Serrano Mercedes, Witters Peter, Honzík Tomáš

Abstract excerpt

Cardiac involvement (CI) in phosphomannomutase 2-congenital disorders of glycosylation (PMM2-CDG) is part of the multisystemic presentation contributing to high mortality rates. The most common cardiac manifestations are pericardial effusion, cardiomyopathy, and structural heart defects. A genotype-phenotype correlation with organ involvement has not yet been described. We analyzed clinical, biochemical, and...

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PMID: 39633515
DOI: 10.1002/jimd.12826

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