Venison Neck Roast Recie

genetic test detects deadly heart disease young people - implant could save lives

Berlin / Wiesbaden - a genetic defect on chromosome 12 is often a cause of
rare heart disease that is responsible for sudden deaths, especially in younger people
. The risk of "arrhythmogenic right ventricular cardiomyopathy
(ARVD) would be through a genetic test
early on - an electronic device could save the lives of those affected
. At a press conference of the German Society of Internal Medicine
(DGIM) in Berlin, Professor Dr. med
Ludwig Thierfelder, who discovered the genetic defect, in the project.



found in international studies, the heart specialist at the Max Delbrück Center for Molecular Medicine in Berlin
revealed that about a quarter of all patients with ARVD
a defect in the gene for the protein plakophilin-2.
It is part of the so-called intercalated discs, which interlock in the heart muscle
closely. The result of the genetic defect, loosen
connections between the cells. In the long run turns
tissue of the heart muscle in the connective and fatty tissue. From a young age
may occur in those affected with life-threatening heart rhythm disturbances
. Often they remain unnoticed for a long, but may at any time
sudden cardiac death . Trigger People with ARVD have a low life expectancy
- for some genetic defects it is below 40 years.



of the research group of Professor Thierfelder
developed genetic test can avert this fate. "If we identify these people have made
, is to help them effectively with an implantable cardioverter"
says the doctor. The defibrillator (ICD) or "definition" is not much bigger than
a heart pacemaker. Herznah planted it automatically detects the
fatal irregular heartbeat. The device then immediately from a current surge, which enables the heart
restart in normal rhythm.



"Our show together with another German, American and Canadian researchers
experience that the implantation of an ICD in
these people is very useful," explains Professor Thierfelder. The cardiologist started
therefore also in Germany to search for these patients
. Notes can frequent palpitations, an already
suffered cardiac arrest or similar cases are in the family. The patients usually have abnormal findings in
echocardiogram or electrocardiogram, which
by any doctor to easily manufactured electrocardiogram. Genetic tests can
in the diagnosis of ARVD are the crucial link. Slightly more than half
ARVD-gene carriers of the disease. "If the genetic defect identified in good time,
could save these people the implantation of a defibrillator life," says Professor
Thierfelder. On the 113th Annual Meeting of the DGIM in Wiesbaden
he referenced in this context, one of the main themes of the Congress
: molecular medicine.





DATE NOTE:



113th Annual Meeting of the German Society of Internal Medicine

Date: 14 to 18 April 2007

Location: Rhein-Main-Hallen, Wiesbaden