| Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation. | |
| | |
MedLine Citation:
|
PMID: 18031519 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
Eeva Hookana; M Juhani Junttila; Terttu Särkioja; Raija Sormunen; Matti Niemelä; M J Pekka Raatikainen; Paavo Uusimaa; Eric Lizotte; Keijo Peuhkurinen; Ramon Brugada; Heikki V Huikuri |
Related Documents
:
|
10403059 - A potentially exhaustive screening strategy reveals two novel divergent myosins in dict... 11728149 - Frequency and clinical characteristics of dilated cardiomyopathy caused by desmin gene ... 12359139 - Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy. 15466629 - Hypertrophy, fibrosis, and sudden cardiac death in response to pathological stimuli in ... 19378229 - Polymorphisms of the beta-1 and beta-2 adrenergic receptors in polish patients with idi... 11716909 - Cardiomyopathies: from genetics to the prospect of treatment. 10403059 - A potentially exhaustive screening strategy reveals two novel divergent myosins in dict... 17225249 - Whole genome genotyping technologies on the beadarray platform. 10743879 - Do individual differences in sociosexuality represent genetic or environmentally contin... |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2007-11-21 |
Journal Detail:
|
Title: Journal of cardiovascular electrophysiology Volume: 19 ISSN: 1540-8167 ISO Abbreviation: J. Cardiovasc. Electrophysiol. Publication Date: 2008 Jul |
Date Detail:
|
Created Date: 2008-08-29 Completed Date: 2009-01-09 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9010756 Medline TA: J Cardiovasc Electrophysiol Country: United States |
Other Details:
|
Languages: eng Pagination: 743-7 Citation Subset: IM |
Affiliation:
|
Division of Cardiology, Department of Medicine, University of Oulu, Oulu, Finland. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adolescent Adult Endomyocardial Fibrosis / diagnosis*, genetics* Family Female Finland Genetic Predisposition to Disease / genetics Heterozygote Humans Lamin Type A / genetics* Lipopolysaccharides Polymorphism, Single Nucleotide / genetics Ventricular Dysfunction, Left / diagnosis*, genetics* |
| Chemical | |
Reg. No./Substance:
|
0/LMNA protein, human; 0/Lamin Type A; 0/Lipopolysaccharides; 0/lipoarabinomannan |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Life-threatening left atrial wall hematoma secondary to a pulmonary vein laceration: an unusual comp...
Next Document: Rationale and design of ATHENA: A placebo-controlled, double-blind, parallel arm Trial to assess the...