Abstract
Aims: Retrospective studies have identified a mutation in the lamin A/C (LMNA) gene in patients selected on the basis of a phenotype characterized by dilated cardiomyopathy, atrioventricular conduction disturbances and sudden death. However, the features of -cardiac abnormalities in patients with an initial diagnosis of Emery-Dreifuss muscular dystrophy (EDMD) are poorly known. Aim of the present study was to investigate the spectrum of cardiac disease in patients with an initial diagnosis of EDMD caused by a mutation in the LMNA gene. Methods and results: Ten consecutive patients with EDMD and a LMNA gene mutation were evaluated with structured medical interview, physical examination, ECG, echocardiogram and 24-h Holter monitoring. Electrophysiological testing and cardiac catheterization were performed if a class 1 or 2 American Heart Association guidelines indication was present. Cardiac disease was found in eight of 10 patients and consisted in the variable combination of supraventricular arrhythmias, disorders of atrioventricular conduction, ventricular arrhythmias, dilated cardiomyopathy, non-dilated cardiomyopathy, restrictive cardiomyopathy and sudden death despite pacemaker implant. Conclusions: Cardiac disease is common in patients with an initial diagnosis of EDMD caused by a mutation in the LMNA gene and consists of arrhythmias, disorders of atrioventricular conduction, cardiomyopathies and sudden death despite pacemaker implant.
| Original language | English |
|---|---|
| Pages (from-to) | 2227-2236 |
| Number of pages | 10 |
| Journal | European Heart Journal |
| Volume | 24 |
| Issue number | 24 |
| DOIs | |
| Publication status | Published - Dec 2003 |
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Keywords
- Arrhythmia
- Cardiac disease
- Cardiomyopathy
- Lamin A/C
- Muscular dystrophy
- Sudden death
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine
Cite this
Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. / Sanna, Tommaso; Dello Russo, Antonio; Toniolo, Daniela; Vytopil, Michal; Pelargonio, Gemma; De Martino, Giuseppe; Ricci, Enzo; Silvestri, Gabriella; Giglio, Vincenzo; Messano, Loredana; Zachara, Elisabetta; Bellocci, Fulvio.
In: European Heart Journal, Vol. 24, No. 24, 12.2003, p. 2227-2236.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations
AU - Sanna, Tommaso
AU - Dello Russo, Antonio
AU - Toniolo, Daniela
AU - Vytopil, Michal
AU - Pelargonio, Gemma
AU - De Martino, Giuseppe
AU - Ricci, Enzo
AU - Silvestri, Gabriella
AU - Giglio, Vincenzo
AU - Messano, Loredana
AU - Zachara, Elisabetta
AU - Bellocci, Fulvio
PY - 2003/12
Y1 - 2003/12
N2 - Aims: Retrospective studies have identified a mutation in the lamin A/C (LMNA) gene in patients selected on the basis of a phenotype characterized by dilated cardiomyopathy, atrioventricular conduction disturbances and sudden death. However, the features of -cardiac abnormalities in patients with an initial diagnosis of Emery-Dreifuss muscular dystrophy (EDMD) are poorly known. Aim of the present study was to investigate the spectrum of cardiac disease in patients with an initial diagnosis of EDMD caused by a mutation in the LMNA gene. Methods and results: Ten consecutive patients with EDMD and a LMNA gene mutation were evaluated with structured medical interview, physical examination, ECG, echocardiogram and 24-h Holter monitoring. Electrophysiological testing and cardiac catheterization were performed if a class 1 or 2 American Heart Association guidelines indication was present. Cardiac disease was found in eight of 10 patients and consisted in the variable combination of supraventricular arrhythmias, disorders of atrioventricular conduction, ventricular arrhythmias, dilated cardiomyopathy, non-dilated cardiomyopathy, restrictive cardiomyopathy and sudden death despite pacemaker implant. Conclusions: Cardiac disease is common in patients with an initial diagnosis of EDMD caused by a mutation in the LMNA gene and consists of arrhythmias, disorders of atrioventricular conduction, cardiomyopathies and sudden death despite pacemaker implant.
AB - Aims: Retrospective studies have identified a mutation in the lamin A/C (LMNA) gene in patients selected on the basis of a phenotype characterized by dilated cardiomyopathy, atrioventricular conduction disturbances and sudden death. However, the features of -cardiac abnormalities in patients with an initial diagnosis of Emery-Dreifuss muscular dystrophy (EDMD) are poorly known. Aim of the present study was to investigate the spectrum of cardiac disease in patients with an initial diagnosis of EDMD caused by a mutation in the LMNA gene. Methods and results: Ten consecutive patients with EDMD and a LMNA gene mutation were evaluated with structured medical interview, physical examination, ECG, echocardiogram and 24-h Holter monitoring. Electrophysiological testing and cardiac catheterization were performed if a class 1 or 2 American Heart Association guidelines indication was present. Cardiac disease was found in eight of 10 patients and consisted in the variable combination of supraventricular arrhythmias, disorders of atrioventricular conduction, ventricular arrhythmias, dilated cardiomyopathy, non-dilated cardiomyopathy, restrictive cardiomyopathy and sudden death despite pacemaker implant. Conclusions: Cardiac disease is common in patients with an initial diagnosis of EDMD caused by a mutation in the LMNA gene and consists of arrhythmias, disorders of atrioventricular conduction, cardiomyopathies and sudden death despite pacemaker implant.
KW - Arrhythmia
KW - Cardiac disease
KW - Cardiomyopathy
KW - Lamin A/C
KW - Muscular dystrophy
KW - Sudden death
UR - http://www.scopus.com/inward/record.url?scp=10744225746&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=10744225746&partnerID=8YFLogxK
U2 - 10.1016/j.ehj.2003.09.020
DO - 10.1016/j.ehj.2003.09.020
M3 - Article
C2 - 14659775
AN - SCOPUS:10744225746
VL - 24
SP - 2227
EP - 2236
JO - European Heart Journal
JF - European Heart Journal
SN - 0195-668X
IS - 24
ER -