Publication
Cardiac Anderson-Fabry disease : lessons from a 25-year-follow up
| Summary: | Sarcomeric hypertrophic cardiomyopathy (HCM) is the most common genetic cause of unexplained left ventricular hypertrophy and has no specific treatment. Anderson-Fabry disease (AFD) is rare and usually multisystemic, but occasionally expresses clinically as a predominantly cardiac phenotype mimicking HCM. We describe an illustrative case of a patient followed regularly for 25 years with a diagnosis of familial HCM and no identified sarcomeric mutations. Next-generation sequencing analysis identified a novel pathogenic mutation in the GLA gene, leading to a diagnosis of previously unknown multisystemic AFD, with consequent implications for the patient's treatment and prognosis and familial screening. |
|---|---|
| Main Authors: | Brito, Dulce |
| Other Authors: | Miltenberger-Miltenyi, Gabriel; Moldovan, Oana; Navarro, Carmen; Madeira, Hugo Costa |
| Subject: | Hypertrophic cardiomyopathy Anderson-Fabry disease Next-generation sequencing |
| Year: | 2014 |
| Country: | Portugal |
| Document type: | article |
| Access type: | restricted access |
| Associated institution: | Universidade de Lisboa |
| Language: | English |
| Origin: | Repositório da Universidade de Lisboa |
| _version_ | 1866810301377150976 |
|---|---|
| author | Brito, Dulce |
| author2 | Miltenberger-Miltenyi, Gabriel Moldovan, Oana Navarro, Carmen Madeira, Hugo Costa |
| author2_role | author author author author |
| author_facet | Brito, Dulce Miltenberger-Miltenyi, Gabriel Moldovan, Oana Navarro, Carmen Madeira, Hugo Costa |
| author_role | author |
| contributor_name_str_mv | Repositório Científico de Acesso Aberto da ULisboa |
| country_str | PT |
| creators_json_txt | [{\"Person.name\":\"Brito, Dulce\"},{\"Person.name\":\"Miltenberger-Miltenyi, Gabriel\",\"Person.identifier.orcid\":\"0000-0003-0224-1281\"},{\"Person.name\":\"Moldovan, Oana\"},{\"Person.name\":\"Navarro, Carmen\"},{\"Person.name\":\"Madeira, Hugo Costa\"}] |
| datacite.contributors.contributor.contributorName.fl_str_mv | Repositório Científico de Acesso Aberto da ULisboa |
| datacite.creators.creator.creatorName.fl_str_mv | Brito, Dulce Miltenberger-Miltenyi, Gabriel Moldovan, Oana Navarro, Carmen Madeira, Hugo Costa |
| datacite.date.Accepted.fl_str_mv | 2014-04-01T00:00:00Z |
| datacite.date.available.fl_str_mv | 2018-08-21T09:41:51Z |
| datacite.date.embargoed.fl_str_mv | 2018-08-21T09:41:51Z |
| datacite.rights.fl_str_mv | http://purl.org/coar/access_right/c_16ec |
| datacite.subjects.subject.fl_str_mv | Hypertrophic cardiomyopathy Anderson-Fabry disease Next-generation sequencing |
| datacite.titles.title.fl_str_mv | Cardiac Anderson-Fabry disease : lessons from a 25-year-follow up Doença cardíaca de Anderson-Fabry : lições de um caso com 25 anos de seguimento |
| dc.contributor.none.fl_str_mv | Repositório Científico de Acesso Aberto da ULisboa |
| dc.creator.none.fl_str_mv | Brito, Dulce Miltenberger-Miltenyi, Gabriel Moldovan, Oana Navarro, Carmen Madeira, Hugo Costa |
| dc.date.Accepted.fl_str_mv | 2014-04-01T00:00:00Z |
| dc.date.available.fl_str_mv | 2018-08-21T09:41:51Z |
| dc.date.embargoed.fl_str_mv | 2018-08-21T09:41:51Z |
| dc.format.none.fl_str_mv | application/pdf |
| dc.identifier.none.fl_str_mv | http://hdl.handle.net/10451/34495 |
| dc.language.none.fl_str_mv | eng |
| dc.publisher.none.fl_str_mv | Elsevier España |
| dc.rights.none.fl_str_mv | http://purl.org/coar/access_right/c_16ec |
| dc.subject.none.fl_str_mv | Hypertrophic cardiomyopathy Anderson-Fabry disease Next-generation sequencing |
| dc.title.fl_str_mv | Cardiac Anderson-Fabry disease : lessons from a 25-year-follow up Doença cardíaca de Anderson-Fabry : lições de um caso com 25 anos de seguimento |
| dc.type.none.fl_str_mv | http://purl.org/coar/resource_type/c_6501 |
| description | Sarcomeric hypertrophic cardiomyopathy (HCM) is the most common genetic cause of unexplained left ventricular hypertrophy and has no specific treatment. Anderson-Fabry disease (AFD) is rare and usually multisystemic, but occasionally expresses clinically as a predominantly cardiac phenotype mimicking HCM. We describe an illustrative case of a patient followed regularly for 25 years with a diagnosis of familial HCM and no identified sarcomeric mutations. Next-generation sequencing analysis identified a novel pathogenic mutation in the GLA gene, leading to a diagnosis of previously unknown multisystemic AFD, with consequent implications for the patient's treatment and prognosis and familial screening. |
| dirty | 0 |
| eu_rights_str_mv | restrictedAccess |
| format | article |
| fulltext.url.fl_str_mv | https://repositorio.ulisboa.pt/bitstreams/e94e0ed1-e4a9-4a6c-9d7f-7fc8d282f1ac/download |
| id | ul_6ceeaf2f6fff44d4843a55b0bb7cc8a2 |
| identifier.url.fl_str_mv | http://hdl.handle.net/10451/34495 |
| instacron_str | ul |
| institution | Universidade de Lisboa |
| instname_str | Universidade de Lisboa |
| language | eng |
| network_acronym_str | ul |
| network_name_str | Repositório da Universidade de Lisboa |
| oai_identifier_str | oai:repositorio.ulisboa.pt:10451/34495 |
| organization_str_mv | urn:organizationAcronym:ul |
| person_str_mv | Brito, Dulce Miltenberger-Miltenyi, Gabriel Miltenberger-Miltenyi, Gabriel https://www.ciencia-id.pt/AE16-3A8D-0392 AE16-3A8D-0392 http://orcid.org/0000-0003-0224-1281 0000-0003-0224-1281 Moldovan, Oana Navarro, Carmen Madeira, Hugo Costa |
| publishDate | 2014 |
| publisher.none.fl_str_mv | Elsevier España |
| reponame_str | Repositório da Universidade de Lisboa |
| repository_id_str | urn:repositoryAcronym:ul |
| service_str_mv | urn:repositoryAcronym:ul |
| spelling | engElsevier Españapt_PTSarcomeric hypertrophic cardiomyopathy (HCM) is the most common genetic cause of unexplained left ventricular hypertrophy and has no specific treatment. Anderson-Fabry disease (AFD) is rare and usually multisystemic, but occasionally expresses clinically as a predominantly cardiac phenotype mimicking HCM. We describe an illustrative case of a patient followed regularly for 25 years with a diagnosis of familial HCM and no identified sarcomeric mutations. Next-generation sequencing analysis identified a novel pathogenic mutation in the GLA gene, leading to a diagnosis of previously unknown multisystemic AFD, with consequent implications for the patient's treatment and prognosis and familial screening.application/pdfpt_PTCardiac Anderson-Fabry disease : lessons from a 25-year-follow upAlternativeTitlept_PTDoença cardíaca de Anderson-Fabry : lições de um caso com 25 anos de seguimentoBrito, DulcePersonalMiltenberger-Miltenyi, GabrielDSpacehttp://dspace.org/items/58c7f5b7-9f9d-42b6-9b39-c53dd40a79c7DSpacehttp://dspace.org/items/58c7f5b7-9f9d-42b6-9b39-c53dd40a79c7Miltenberger-MiltenyiGabrielCiência IDhttps://www.ciencia-id.ptAE16-3A8D-0392ORCIDhttp://orcid.org0000-0003-0224-1281Moldovan, OanaNavarro, CarmenMadeira, Hugo CostaHostingInstitutionOrganizationalRepositório Científico de Acesso Aberto da ULisboae-mailmailto:repositorio@reitoria.ulisboa.ptrepositorio@reitoria.ulisboa.ptISSNIsPartOf0870-2551DOIIsPartOf10.1016/j.repc.2013.10.0142018-08-21T09:41:51Z2014-042014-04-01T00:00:00ZHandlehttp://hdl.handle.net/10451/34495http://purl.org/coar/access_right/c_16ecrestricted accessHypertrophic cardiomyopathyAnderson-Fabry diseaseNext-generation sequencing2341211 bytesliteraturehttp://purl.org/coar/resource_type/c_6501journal articlehttp://purl.org/coar/access_right/c_16ecapplication/pdffulltexthttps://repositorio.ulisboa.pt/bitstreams/e94e0ed1-e4a9-4a6c-9d7f-7fc8d282f1ac/downloadRevista Portuguesa de Cardiología334247.e1-7 |
| spellingShingle | Cardiac Anderson-Fabry disease : lessons from a 25-year-follow up Brito, Dulce Hypertrophic cardiomyopathy Anderson-Fabry disease Next-generation sequencing |
| status | SINGLETON |
| subject.fl_str_mv | Hypertrophic cardiomyopathy Anderson-Fabry disease Next-generation sequencing |
| title | Cardiac Anderson-Fabry disease : lessons from a 25-year-follow up |
| title_full | Cardiac Anderson-Fabry disease : lessons from a 25-year-follow up |
| title_fullStr | Cardiac Anderson-Fabry disease : lessons from a 25-year-follow up |
| title_full_unstemmed | Cardiac Anderson-Fabry disease : lessons from a 25-year-follow up |
| title_short | Cardiac Anderson-Fabry disease : lessons from a 25-year-follow up |
| title_sort | Cardiac Anderson-Fabry disease : lessons from a 25-year-follow up |
| topic | Hypertrophic cardiomyopathy Anderson-Fabry disease Next-generation sequencing |
| topic_facet | Hypertrophic cardiomyopathy Anderson-Fabry disease Next-generation sequencing |
| url | http://hdl.handle.net/10451/34495 |
| visible | 1 |