Document Detail

Long-term outcome and risk stratification in dilated cardiolaminopathies.
MedLine Citation:
PMID:  18926329     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: The aim of this study was to analyze the long-term follow-up of dilated cardiolaminopathies. BACKGROUND: Lamin A/C (LMNA) gene mutations cause a variety of phenotypes. In the cardiology setting, patients diagnosed with idiopathic dilated cardiomyopathy (DCM) plus atrioventricular block (AVB) constitute the majority of reported cases. METHODS: Longitudinal retrospective observational studies were conducted with 27 consecutive families in which LMNA gene defects were identified in the probands, all sharing the DCM phenotype. RESULTS: Of the 164 family members, 94 had LMNA gene mutations. Sixty of 94 (64%) were phenotypically affected whereas 34 were only genotypically affected, including 5 with pre-clinical signs. Of the 60 patients, 40 had DCM with AVB, 12 had DCM with ventricular tachycardia/fibrillation, 6 had DCM with AVB and Emery-Dreifuss muscular dystrophy type 2 (EDMD2), and 2 had AVB plus EDMD2. During a median of 57 months (interquartile range 36 to 107 months), we observed 49 events in 43 DCM patients (6 had a later event, excluded from the analysis). The events were related to heart failure (15 heart transplants, 1 death from end-stage heart failure) and ventricular arrhythmias (15 sudden cardiac deaths and 12 appropriate implantable cardioverter-defibrillator interventions). By multivariable analysis, New York Heart Association functional class III to IV and highly dynamic competitive sports for >or=10 years were independent predictors of total events. By a bivariable Cox model, splice site mutations and competitive sport predicted sudden cardiac death. CONCLUSIONS: Dilated cardiomyopathies caused by LMNA gene defects are highly penetrant, adult onset, malignant diseases characterized by a high rate of heart failure and life-threatening arrhythmias, predicted by New York Heart Association functional class, competitive sport activity, and type of mutation.
Michele Pasotti; Catherine Klersy; Andrea Pilotto; Nicola Marziliano; Claudio Rapezzi; Alessandra Serio; Savina Mannarino; Fabiana Gambarin; Valentina Favalli; Maurizia Grasso; Manuela Agozzino; Carlo Campana; Antonello Gavazzi; Oreste Febo; Massimiliano Marini; Maurizio Landolina; Andrea Mortara; Giovanni Piccolo; Mario Viganò; Luigi Tavazzi; Eloisa Arbustini
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of the American College of Cardiology     Volume:  52     ISSN:  1558-3597     ISO Abbreviation:  J. Am. Coll. Cardiol.     Publication Date:  2008 Oct 
Date Detail:
Created Date:  2008-10-17     Completed Date:  2008-11-04     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8301365     Medline TA:  J Am Coll Cardiol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1250-60     Citation Subset:  AIM; IM    
Centre for Inherited Cardiovascular Diseases, Molecular Diagnostic Laboratory, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
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MeSH Terms
Cardiomyopathy, Dilated / genetics*,  physiopathology
Follow-Up Studies
Lamin Type A / genetics*
Middle Aged
Risk Factors
Reg. No./Substance:
0/LMNA protein, human; 0/Lamin Type A
Comment In:
J Am Coll Cardiol. 2008 Oct 7;52(15):1261-2   [PMID:  18926330 ]

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