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Cardiovascular Research 2006 72(3):361-363; doi:10.1016/j.cardiores.2006.09.004
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Copyright © 2006, European Society of Cardiology

Why the Brugada syndrome is not yet a disease: Syndromes, diseases, and genetic causality

Ruben Coronel*, Géza Berecki and Tobias Opthof

From the Experimental and Molecular Cardiology groups, the Academic Medical Center Amsterdam, The Netherlands

* Corresponding author. Department of Experimental Cardiology, Academic Medical Center, Rm M0-108, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Tel.: +31 20 566 3267; fax: +31 20 697 5458. Email address: r.coronel@amc.uva.nl

Received 27 June 2006; revised 15 August 2006; accepted 12 September 2006

The first 10% of the full text of this article appears below.

A syndrome is a collection of symptoms and clinical signs that often occur in concert and suggest a common cause. Contrary to a disease, the cause–effect relations and pathophysiological mechanisms of syndromes are unknown or at least incompletely understood. The unveiling of pathophysiological mechanisms underlying a syndrome is one of the most rewarding accomplishments of biomedical research. Definitions of a syndrome are often disputed (see, for example, the definition of heart failure [1]), and its identifying signs may change.

In some syndromes an association exists with a genetic mutation that is present in only a minority of patients. This apparent discrepancy can indicate that 1) standard genetic screening methods fail to detect mutations; 2) other (genetic) factors are required; 3) the genetic mutation establishes a modulating . . . [Full Text of this Article]


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