Genetic Testing a Must for Relatives of Cardiomyopathy Patients

February 5, 2018

With 4 in 10 cardiomyopathies having genetic links, there is a need for relatives of patients with cardiomyopathy to be screened in order to prevent early death, according to a recent study published in European Heart Journal.

With 4 in 10 cardiomyopathies having genetic links, there is a need for relatives of patients with cardiomyopathy to be screened in order to prevent early death, according to a recent study published in European Heart Journal. Cardiomyopathy is a leading cause of sudden cardiac death and heart failure in young patients. As the heart muscle becomes enlarged, thick or rigid, the heart becomes weak and is unable to pump blood efficiently, causing arrhythmias.

The first European registry on cardiomyopathies included 3208 patients enrolled in 69 centers across 18 countries and was conducted by the EURObservational Research Programme. In Europe, 1 in 300 patients suffer from a type of cardiomyopathy.

“We were surprised to see how frequently the disease is inherited,” first author Philippe Charron, MD, PhD, of the Pitié-Salpêtrière Hospital in Paris, France, said in a statement. “About 40% of patients had familial disease. As a consequence, it is very important to improve screening to detect the disease in the relatives who are apparently healthy.”

Diagnosis was conducted through an echocardiography and an electrocardiogram which found that two-thirds of relatives with a cardiomyopathy had the same condition with similar severity and frequency of symptoms. It was also recorded that patients who were required to have an implantable cardioverter defibrillator (ICD) had relatives who also used an ICD to stop life threatening arrhythmias.

The researchers recommend that screening for cardiomyopathies should begin before 10 years of age and continue through adult life. While some people can develop the condition during their early childhood, many are not at risk until much later in life.

Just 36% of participants in the study had genetic testing. While this is an increase from a decade ago, the researchers find that more testing must be conducted. The most effective way to manage patients with cardiomyopathies is early diagnosis of arrhythmias. Therefore, correct diagnostic tests are necessary for patient survival.

“The frequency of arrhythmias in the study was high. In one cardiomyopathy subtype, 39% of patients had potentially deadly arrhythmias,” Charron said. “But diagnostic testing for arrhythmias was suboptimal and patients may be missing out on lifesaving treatment with an ICD or pacemaker.”

Expert centers are needed throughout Europe to increase cardiac tests that identify arrhythmias, check heart function, investigate rare causes of cardiomyopathies, and perform genetic tests in family members of already diagnosed cardiomyopathy patients.

“The results emphasize the complexity of services and multidisciplinary expertise required for the management of patients with a cardiomyopathy. The analysis of the results also identified potential gaps with existing recommendations,” the authors concluded. “Work is warranted to understand the large variation in services provision as well as renewed efforts to provide evidence-based diagnostic processes and therapies.”

References

Charron P, Elliott PM, Gimeno JR, et al. The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies. Eur Heart J. doi: 10.1093/eurheartj/ehx819. Published onling ahead of print January 24, 2018.