Copyright © 2004 by the European Society of Cardiology.
Editorial
Often seen but rarely recognised: cardiac complications of lamin A/C mutations
a Department of Cardiology, University Hospital Maastricht and Experimental and Molecular Cardiology, Maastricht, Netherlands
b Service de Cardiologie, GH Cochin, Paris, France
* Correspondence to: Yigal M. Pinto, Department of Cardiology, University Hospital Maastricht and Experimental and Molecular Cardiology, CARIM, P. Debyelaan 25, Postbus 5800, 6202 AZ, Maastricht, Netherlands. Tel.: +31-433877097; fax: +31-433875104
E-mail address: Y.pinto@cardio.azm.nl
| The first 10% of the full text of this article appears below. |
This editorial refers to "A novel mutation, Ser143Pro, in the lamin A/C gene is common in Finnish patients with familial dilated cardiomyopathy"1 by S. Kärkkäinen on page 885.
Most cardiologists are quite alarmed when they learn that a patient carries a mutation in the SCN5a gene responsible for "Brugada" syndrome. In contrast, when confronted with a family carrying a lamin A/C mutation, they are often less aroused. In this issue of the Journal, a founder mutation in the lamin A/C gene that causes cardiomyopathy with a particularly grave prognosis is reported.1 This finding underscores the fact that mutations in the lamin A/C gene very often affect the heart, often with devastating consequences. However, in contrast with SCN5a and other genes known to cause sudden death, the role of lamin
Pathophysiology of lamin A/C mutations
Prevalence of lamin A/C mutations
Clinical characteristics of lamin A/C mutations
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- A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy
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EHJ 2004 25: 885-893.[Abstract] [Full Text]
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