Seemingly healthy people who die, for example while exercising, due to a severe cardiac arrhythmia: there is a chance they have the hereditary heart disease ARVC. Researchers at UMC Utrecht and Johns Hopkins Hospital (USA) have now developed a risk calculator. This makes it easy to calculate the individual risk of life-threatening arrhythmias in ARVC patients. On this basis, physicians can choose the best treatment together with a patient. Use of the calculator can prevent one out of three ICD implantations in ARVC patients, a time-consuming procedure.
In the hereditary heart disease ARVC, arrhythmogenic right ventricular cardiomyopathy, life-threatening arrhythmias occur. The heart’s pumping function also slowly deteriorates. The predisposition for the disease is hereditary. One in a thousand people have this hereditary predisposition. Thirty percent of them, actually get ARVC. This makes it one of the most common hereditary heart muscle diseases in the Netherlands. The condition affects both men and women, mostly young and very athletic patients, with an average age of 35 years.
Sudden cardiac death is the most visible, but so far also the most unpredictable, consequence of ARVC. More insight into the risk of cardiac arrhythmias for individual patients is therefore very important for treatment.
The estimated risk can be leading in the choice of drug treatment, the urgent advice to exercise (much) less, or the surgical insertion of an ICD: an implantable cardioverter defibrillator. This device can restore the heart rhythm at the moment a life-threatening heart rhythm disorder occurs. An ICD is the only proven life-extending treatment for ARVC, but it also comes with risks, such as complications from the surgery required for implantation.
Together with fourteen hospitals in six European and North American countries, led by UMC Utrecht and Johns Hopkins Hospital (Baltimore, USA), researchers have now developed a calculation model. Laurens Bosman (physician-investigator in cardiology) and Anneline te Riele (cardiologist-in-training), as principal investigators at UMC Utrecht, played important roles in the development of the computational model. This model, a risk calculator, can be used to determine a patient’s individual risk of life-threatening cardiac arrhythmias. The risk calculator is based on data from 528 ARVC patients whose predisposition to this hereditary heart disease has been established through DNA testing: the largest group of ARVC patients ever described.
The calculator calculates the risk of life-threatening arrhythmias based on seven characteristics: age, sex, a previous arrhythmia, a previous road rage, the number of heart skips in 24 hours, an abnormal heart monitor, and the pumping power of the right ventricle. The physician can easily extract this data from the patient record. The risk calculator enables physicians to arrive at the best individual treatment in discussion with the patient. Also, using the risk calculator in ARVC patients, up to 32 percent of ICD implantations are preventable in people who turn out not to need such a device. This is also an important advance, as implantation is a stressful procedure for the patient that is not without risks.
The calculator is available online so that any doctor can use it. For this study, UMC Utrecht, along with other Dutch UMCs, provided the data from nearly a third of the patients.
The study was supported in part by the Dutch Heart Foundation, The Netherlands Heart Institute and the Netherlands Organization for Scientific Research (NWO). Patients, physicians and researchers interested in learning more about (participating in) scientific research on ARVC/ ACM can go here .
An article about this risk calculator appeared Wednesday, March 27, in European Heart Journal.
