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European Heart Journal 2004 25(10):812-814; doi:10.1016/j.ehj.2004.03.007
Copyright © 2004 by the European Society of Cardiology.
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Editorial

Often seen but rarely recognised: cardiac complications of lamin A/C mutations

Jop H van Berloa, Denis Dubocb and Yigal M Pintoa,*

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 . . . [Full Text of this Article]

Pathophysiology of lamin A/C mutations

Prevalence of lamin A/C mutations

Clinical characteristics of lamin A/C mutations


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Related articles in EHJ:

A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy
Satu Kärkkäinen, Tiina Heliö, Raija Miettinen, Petri Tuomainen, Paula Peltola, Juha Rummukainen, Kari Ylitalo, Maija Kaartinen, Johanna Kuusisto, Lauri Toivonen, Markku S Nieminen, Markku Laakso, and Keijo Peuhkurinen
EHJ 2004 25: 885-893. [Abstract] [FREE Full Text]  



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