Researchers look at genetic causes of restrictive cardiomyopathy

13th October 2016

Advanced genetic testing of families with restrictive cardiomyopathy (RCM) has revealed some of the genetic origins of the disease.

A team of international researchers from Russia, Sweden, Germany and Estonia used next generation gene sequencing to look at the causes of the disease in 24 people.

They looked at 108 cardiomyopathy and arrhythmia-associated genes. Multiple gene mutations were detected in just over half (13) of the RCM cases

A combination of sarcomeric gene mutations, which relate to the heart’s ability to contract, and cytoskeletal gene mutations, affecting how cells maintain their shape and internal organisation, were the most common. These mutations contributed to almost four in ten cases of the disease.

The researchers said that while about half of the genetic causes of other types of cardiomyopathy were known, the genetic spectrum of RCM was largely unknown. So they wanted to identify the background of the disease and compile a list of genetic variants.

For more details, see here (external link)