While genetic inheritance is known to play a role in the multifactorial development of most diseases of the heart, there are also a number of clearly diagnosed cardiac conditions which owe their development to quite specific genetic abnormalities. When these genetic disorders affect the integrity of the heart's muscle they are known as a "cardiomyopathy"; when the disorder affects the heart's "excitability", it is known as a "channelopathy".
Both conditions predispose to arrhythmias and sudden cardiac death - often in the young. A reliable genetic test for the presence of DNA changes in the genes which encode for ion channels and relevant proteins would not only help identify affected patients and reduce these serious risks, but also provide information for personalised treatment.
An expert consensus statement on the value of diagnostic genetic testing for these inherited cardiac conditions will be unveiled today at the EHRA EUROPACE 2011 congress in Madrid. The report, the HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies, is a joint development of the Heart Rhythm Society and the European Heart Rhythm Association (EHRA). The latter is the organiser of EHRA EUROPACE 2011.
According to Dr Silvia Priori, who will present details of the consensus statement today, its aim is to provide recommendations on how each of 13 inherited conditions might be tested for and diagnosed using genetic analysis. The guidance makes clear that these recommendations deal with uncommon diseases and are based on the results of studies which are much smaller than those available for more common diseases, such as myocardial infarction or heart failure. But, says Dr Priori, the field is evolving rapidly. In deed, the genetics of inherited arrythmogenic diseases is a recent sub-specialty of cardiology and it's only in the past 25 years that the first causative genes for channelopathies and cardiomy
|Contact: Jacqueline Partarrieu|
European Society of Cardiology