Researchers link gene mutations to Ebstein's anomaly

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 Center for Molecular Medicine (MDC) Berlin-Buch have identified mutations in a gene which plays an important role in the structure of the heart. The researchers hope that these findings will lead to faster diagnosis and novel, more specifically targeted treatment methods (Circulation Cardiovascular Genetics).

Ebstein's anomaly is a heart defect in which the valve between the right ventricle and the right atrium is abnormally formed. Since the heart valve cannot close properly, heart function is compromised. Some patients with Ebstein's anomaly additionally suffer from a myocardial disease called left ventricular noncompaction (LVNC). This disease is associated with increased risk for sudden cardiac death or inadequate functioning of the heart muscle (myocardial insufficiency).

A few years ago in a study of LVNC patients, Prof. Ludwig Thierfelder and Dr. Sabine Klaassen (both MDC) discovered mutations in three different that encode muscle structural proteins. These proteins are important for heart contraction and for enabling the blood to be pumped through the body. One gene in which the MDC researchers identified mutations is the gene MYH7. Mutations in this gene in LVNC patients cause sponge-like muscle tissue to protrude into the left ventricle, thus impairing the contractile performance of the heart.

As a consequence of these findings, Dr. Alex V. Postma from Amsterdam, Professor Judith Goodship from Newcastle and PD Dr. Klaassen from the MDC sought to determine whether an association exists between Ebstein's anomaly, LVNC and mutations in the gene MYH7. In a multicenter study of cohorts from the Netherlands, Germany and the UK, they studied 141 Ebstein's patients who were not related to each other for mutations in MYH7. In eight of the study participants, the researchers identified mutations in this gene. Six of these patients also suffered from the myocardial disease LVNC in addition to Ebstein's anomaly.

"From these results we conclude that one mutation can lead to different congenital heart diseases. These can even occur concurrently, as here with Ebstein's anomaly and LVNC," said Dr. Klaassen. "In these cases we recommend that other family members also undergo cardiac examinations and genetic testing, since the risk for heart arrhythmia or heart failure is increased in mutation carriers even if they are not known to have a congenital heart defect. The earlier the encoding the structural proteins of the heart are recognized, the better: close monitoring, long-term ECG recording and drug treatment can be conducted at an early stage. This means that physicians can advise and treat their patients more effectively."

Explore further: Secret of tetanus toxicity offers new way to treat motor neuron disease

More information: Mutations in the Sarcomere Gene MYH7 in Ebstein's Anomaly, DOI:10.1161/CIRCGENETICS.110.957985

add to favorites email to friend print save as pdf

Related Stories

Cardiac MR sheds light on obscure heart muscle condition

Nov 17, 2010

Left ventricular non-compaction (LVNC), a cardiomyopathy about which little is fully understood, is associated with heart failure (HF), stroke and ventricular arrhythmias, according to a study to be presented Nov. 17 at the ...

Heart regenerates after infarction -- first trials with mice

Dec 11, 2008

Up until today scientists assumed that the adult heart is unable to regenerate. Now, researchers and cardiologists from the Max Delbrück Center for Molecular Medicine (MDC) Berlin-Buch and the Charité – Universitätsmedizin ...

Safe new therapy for genetic heart disease

Dec 30, 2008

A new clinical trial suggests that long-term use of candesartan, a drug currently used to treat hypertension, may significantly reduce the symptoms of genetic heart disease. The related report by Penicka et al, "The effects ...

Key finding in rare muscle disease

Jan 17, 2007

The finding is in the current issue of Annals of Neurology, a leading international neurology journal, in work led by Professor Nigel Laing and Dr Kristen Nowak of the Laboratory for Molecular Genetics at the Western Austra ...

Novel gene found for dilated cardiomyopathy

Jul 13, 2009

Researchers in the Heart Institute at Cincinnati Children's Hospital Medical Center have discovered a novel gene responsible for heart muscle disease and chronic heart failure in some children and adults with dilated cardiomyopathy ...

Recommended for you

Stroke damage mechanism identified

Nov 27, 2014

Researchers have discovered a mechanism linked to the brain damage often suffered by stroke victims—and are now searching for drugs to block it.

User comments : 0

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.