Discovery could improve screening for sudden cardiac death

Unfortunately, newspaper articles about young athletes dying suddenly on the field are not unheard of. Such reports fuel discussions about compulsory screening, for example of young footballers, for heart failure. Research by scientists from Ghent (VIB/UGent) and Italy will benefit these screening methods. They have discovered a link between mutations in a certain gene and the heart condition Arrhythmogenic Right Ventricular Cardiomyopathy.

ARVC is a hereditary heart condition in which the heart muscle (particularly the ) is partly replaced by fatty tissue and connective tissue. can occur as a result of the changes in the heart muscle. Severe arrhythmias can cause dizziness or even lead to fainting or an acute cardiac arrest (= sudden death). ARVC is a progressive disease that usually presents during the teenage years.

Known mutations in desmosomal proteins

Mutations in various genes have already been linked to ARVC. These are primarily genes that are responsible for the production of proteins in the desmosomes. Desmosomes are structures in the heart that ensure that the remain connected to each other. Therefore, it was assumed that defects in the desmosomes were the most important factors in developing ARVC.

Identification of new mutations

Together with Italian scientists, Jolanda van Hengel, studied patients with ARVC who did not exhibit mutations in the desmosomal genes. The scientists identified mutations in the CTNNA3 gene in these patients, which codes for the protein αT-catenin – a component of the area composita. The area composita is a structure specifically modified to the heart, where extra strong connections between occur.

The scientists' findings indicate that there is a link between mutations in the CTNNA3 gene and ARVC. It was demonstrated for the first time that – in addition to desmosomal genes – an area composita gene also plays a role in the development of ARVC. Future genetic screening tests for ARVC should include the CTNNA3 gene as a standard part of the test. This would increase the value of the screening.

More information: The research is published in the leading journal European Heart Journal, van Hengel et al., Mutations in the area composita protein alpha-T-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. eurheartj.oxfordjournals.org/c… artj.ehs373.abstract

Related Stories

Researchers develop world's first human heart cell model

date Oct 25, 2012

Researchers at the National Heart Centre Singapore (NHCS) have successfully created a human heart cell model of arrhythmogenic right ventricular cardiomyopathy (ARVC), an inherited heart muscle disorder which puts one at ...

Researchers link gene mutations to Ebstein's anomaly

date Feb 16, 2011

Ebstein's anomaly is a rare congenital valvular heart disease. Now, in patients with this disease, researchers of the Academic Medical Center Amsterdam in the Netherlands, the University of Newcastle, UK and the Max Delbrück ...

Recommended for you

1950s drug is future heart treatment

date May 22, 2015

Oxford University researchers have found a promising future treatment for heart disease, going back to a drug first developed in 1950.

Time is muscle in acute heart failure

date May 21, 2015

Urgent diagnosis and treatment in acute heart failure has been emphasised for the first time in joint recommendations published today in European Heart Journal.

User comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.