Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation.
INTRODUCTION: We screened the candidate genes from a Finnish family in which the mother was resuscitated from ventricular fibrillation and the daughter died suddenly without any prior cardiac symptoms. METHODS AND RESULTS: In addition to screening of potential structural gene mutations, phenotyping...
| Publicado en: | Journal of Cardiovascular Electrophysiology Vol. 19; no. 7; pp. 743 - 748 |
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| Autores principales: | , , , , , , , , , , |
| Formato: | case study Journal Article |
| Publicado: |
Wiley-Blackwell
Jul2008
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=105552298&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 105552298 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10453873 GSB jtl: Journal of Cardiovascular Electrophysiology issn: 10453873 maglogo: Y pubinfo: dt: Jul2008 vid: 19 iid: 7 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 105552298 105552298 2010024575 10.1111/j.1540-8167.2007.01017.x NLM18031519 105552298 ppf: 743 ppct: 5 formats: fmt: @attributes: type: P tig: atl: Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation. aug: au: Hookana E Junttila MJ Särkioja T Sormunen R Niemelä M Raatikainen MJ Uusimaa P Lizotte E Peuhkurinen K Brugada R Huikuri HV affil: Division of Cardiology, Department of Medicine, University of Oulu, Oulu, Finland. sug: subj: Myocardial Diseases Myocardial Diseases Diagnosis Proteins Ventricular Dysfunction, Left Ventricular Dysfunction, Left Diagnosis Adolescence Adult Heterozygote Disease Susceptibility Family Female Finland Lipids Polymorphism, Genetic Adolescent: 13-18 years Adult: 19-44 years Female ab: INTRODUCTION: We screened the candidate genes from a Finnish family in which the mother was resuscitated from ventricular fibrillation and the daughter died suddenly without any prior cardiac symptoms. METHODS AND RESULTS: In addition to screening of potential structural gene mutations, phenotyping of the proband and medico-legal autopsy of the victim of the sudden death, including histopathological examinations, were performed. Genetic screening revealed an R541C mutation in the lamin A/C gene both in the proband and her daughter. None of the 16 first- or second-degree relatives, or 96 unrelated healthy subjects, carried the same mutation. In the proband, the size and the global function of the left ventricle (LV) were normal, but a local hypokinesia and thinning of inferoposterior area of the LV were seen in 2D echocardiography and magnetic resonance imaging. Coronary angiogram and the results of the electrophysiological study were normal. Autopsy of the victim of sudden death showed localized thinning and fibrosis in the inferoposterior area of the LV, with only minimal fibrosis in the right ventricle and no abnormalities in the interventricular septum. CONCLUSION: These observations indicate that a fatal or near-fatal cardiac arrhythmia can be the first clinical manifestation of a 'de novo' mutation R541C of the lamin A/C gene. Replacement of cardiac myocytes by fibrosis seems to be the predominant pathologic-anatomic finding. pubtype: Academic Journal doctype: case study Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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