Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.

doi:10.1007/s00109-021-02112-z

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Article

Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.

Journal of molecular medicine (Berlin, Germany) - 1 Nov 2021

Zhao Yan, Wang Lee-Kai, Eskin Ascia, Kang Xuedong, Fajardo Viviana M, Mehta Zubin, Pineles Stacy, Schmidt Ryan J, Nagiel Aaron, Satou Gary, Garg Meena, Federman Myke, Reardon Leigh C, Lee Steven L, Biniwale Reshma, Grody Wayne W, Halnon Nancy, Khanlou Negar, Quintero-Rivera Fabiola, Alejos Juan C, Nakano Atsushi, Fishbein Gregory A, Van Arsdell Glen S, Nelson Stanley F, Touma Marlin

Abstract excerpt

Among neonatal cardiomyopathies, primary endocardial fibroelastosis (pEFE) remains a mysterious disease of the endomyocardium that is poorly genetically characterized, affecting 1/5000 live births and accounting for 25% of the entire pediatric dilated cardiomyopathy (DCM) with a devastating course and grave prognosis. To investigate the potential genetic contribution to pEFE, we performed integrative genomic...

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PMID: 34387706
DOI: 10.1007/s00109-021-02112-z
PMCID: PMC8541947

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