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Molecular genetic diagnostics of inherited cardiomyopathies

Cardiomyopathies in young people often have a genetic cause. However, before the advent of targeted next-generation sequencing, the diagnosis of cardiomyopathies was both expensive and time-consuming. Scientists from Heidelberg University Hospital, the German Cancer Research Center and the company Febit Biomed GmbH have now developed a method that facilitates the analysis and detection of disease-causing genetic modifications: for the first time ever, this method enables the cost-efficient genetic characterisation of cardiomyopathy patients. For patients and their relatives this means that the disease can now be reliably diagnosed and specific treatment and care be put in place at an early stage. In future it will also be possible to offer the new method to a larger number of patients than was previously the case.

“Around 50 genes are now known to cause inherited cardiomyopathies when defective, some of which are associated with a very poor prognosis,” said Dr. Benjamin Meder, physician at the University Hospital in Heidelberg. Mutations of these genes are associated with defects in certain heart processes and need to be treated with specific drugs. In addition, depending on the type of defect, cardiomyopathy patients need to undergo intensive monitoring or even be supplied with a cardiac pacemaker at an early stage.

Potential consequences: cardiac arrhythmias and heart failure

Around 200,000 people in Germany suffer from genetic heart diseases, otherwise known as cardiomyopathies. Such diseases can lead to cardiac arrhythmias and even heart failure. However, the majority of these disorders remain undetected for a long time. The heart might suddenly, with no advance warning, stop beating: examples of such tragic cases include football players who suffer a fatal heart attack during a game. Therefore, it is crucial to diagnose and treat cardiomyopathy patients as early as possible.

The large number of genetic causes makes the diagnosis of cardiomyopathies both costly and time-consuming. Standard methods enable treating cardiologists to examine only a few of the 50 genes known to cause cardiomyopathies. The procedures are very expensive and do not often lead to reliable findings. “It is like looking for a needle in a haystack,” said Meder explaining why many sufferers do not undergo genetic testing.

The new method, which is known as “targeted next-generation sequencing”, enables the simultaneous investigation of all 50 genes known to be associated with cardiomyopathies, and has the advantage of being neither too costly nor too time consuming. The method starts with the enrichment of the DNA segments associated with the disease, which then bind to custom-made probes. The DNA segments that are of no relevance are washed away with specific solutions. The enrichment is followed by next-generation sequencing and computer analysis to detect mutations in cardiomyopathy patients. In general, the method enables the genetic aetiology of cardiomyopathies to be defined in a single sequencing run. At present, the test is only approved for research use. “We hope that we will soon be able to offer the test to a larger number of patients and thus contribute to the reliable diagnosis of cardiomyopathies,” said Dr. Meder.

Further information:
Dr. med. Benjamin Meder
Department of Cardiology, Angiology and Pneumology
University Hospital of  Heidelberg
Im Neuenheimer Feld 350
69120 Heidelberg
Tel.: +49 (0)6221 / 56 8610
E-mail: benjamin.meder(at)med.uni-heidelberg.de

Website address: https://www.gesundheitsindustrie-bw.de/en/article/press-release/molecular-genetic-diagnostics-of-inherited-cardiomyopathies