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Unclassifiable arrhythmic cardiomyopathy associated with Emery–Dreifuss caused by a mutation in FHL1

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dc.contributor.authorSan Román, I.
dc.contributor.authorMartínez, F.
dc.contributor.authorAlbert, L.
dc.contributor.authorPolo, L.
dc.contributor.authorGuardiola, J.
dc.contributor.authorGarcía-Molina, E.
dc.contributor.authorMuñoz-Esparza, C.
dc.contributor.authorLópez-Ayala, J.M.
dc.contributor.authorSabater Molina, María
dc.contributor.authorGimeno Blanes, Juan Ramón
dc.contributor.departmentMedicina
dc.contributor.otherFacultad de Medicina
dc.date.accessioned2026-01-15T11:19:14Z
dc.date.available2026-01-15T11:19:14Z
dc.date.copyright© 2016, John Wiley & Sons A/S
dc.date.issued2016-02-09
dc.description.abstractEmery–Dreifuss muscular dystrophy (EDMD) is a heterogeneous genetic disorder characterized by peripheral muscular weakness often associated with dilated cardiomyopathy. We characterize clinically a large family with a mutation in FHL1 gene (p.Cys255Ser). Penetrance was 44%, 100% for males and 18% for females. The heart was the main organ involved. Affected adult males had mild hypertrophy, systolic dysfunction and restriction with non-dilated ventricles. Carriers had significant QTc prolongation. The proband presented with resuscitated cardiac arrest. There were two transplants. Pathological study of explanted heart showed fibrofatty replacement and scarring consistent with arrhythmogenic cardiomyopathy and prominent left ventricular trabeculations. Myopathic involvement was evident in all males. Females had no significant neuromuscular disease. Mutations in FHL1 cause unclassifiable cardiomyopathy with coexisting EDMD. Prognosis is poor and systolic impairment and arrhythmias are frequent. Thrombopenia and raised creatine phosphokinase should raise suspicion of an FHL-1 disorder in X-linked cardiomyopathy.
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dc.format.extent6
dc.identifier.doihttps://doi.org/10.1111/cge.12760
dc.identifier.eissn1399-0004
dc.identifier.issn0009-9163
dc.identifier.urihttp://hdl.handle.net/10201/187089
dc.languageeng
dc.publisherWiley
dc.relationInvestigators are part of a cardiovascular research network, Red de Investigación Cardiovascular (RIC;RD12/0042/0049) and of an Institute Murciano de Investigación Biosanitaria (IMIB) both of them from the Carlos III Health Institute.
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/10.1111/cge.12760
dc.rights.accessRightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectEmery
dc.subjectDreifuss muscular dystrophy
dc.subjectFHL1
dc.subjectMutation
dc.subjectCardiomyopathy
dc.subject.odsNo relacionado con ningún objetivo de desarrollo sostenible
dc.titleUnclassifiable arrhythmic cardiomyopathy associated with Emery–Dreifuss caused by a mutation in FHL1
dc.typeinfo:eu-repo/semantics/article
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dspace.entity.typePublicationes
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relation.isAuthorOfPublication4d37f6b7-66c0-4f9a-81c7-72d9bd67f2fb
relation.isAuthorOfPublication.latestForDiscoveryf4a8b11b-9980-45e4-9d87-c430bde8beb2
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