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4 in 10 cardiomyopathies have genetic basis
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Approximately 40% of cardiomyopathies are inherited, according to baseline data from the first European cardiomyopathy registry.
The registry, part of the EURObservational Research Programme of the European Society of Cardiology, includes 3,208 patients from 18 countries with one of four kinds of cardiomyopathy: hypertrophic (n = 1,739), dilated (n = 1,260), arrhythmogenic right ventricular (n = 143) or restrictive (n = 66).
The researchers published baseline characteristics and management strategies of the cohort in the European Heart Journal, including the finding that about 4 in 10 patients had a genetic cardiomyopathy.
“We were surprised to see how frequently the disease is inherited,” Philippe Charron, MD, PhD, professor of cardiology at Pitié-Salpêtrière Hospital in Paris, said in a press release. “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.”
Age at diagnosis varied widely, from younger than 10 years to older than 70 years (P < .001 for difference among cardiomyopathy subtypes), according to the researchers.
Also differing by cardiomyopathy subtype was history of familial disease, history of sustained ventricular arrhythmia, use of MRI or genetic testing and implantation of defibrillators (P < .001 for all).
Compared with probands, those diagnosed because of being related to a proband were younger when diagnosed (median, 39 years vs. 50 years; P < .001) but were similar in rate of symptoms and defibrillator use, Charron and colleagues found.
“The earlier we identify relatives with the mutation, the better we can manage them and prevent complications including sudden cardiac death,” Charron said in the release.
History of sustained ventricular tachycardia was most often seen in patients with arrhythmogenic RV cardiomyopathy (39.2%) and least often seen in patients with restrictive cardiomyopathy (1.5%), according to the researchers.
History of atrial fibrillation was most prevalent in those with restrictive cardiomyopathy (48.5%) and least prevalent in those with arrhythmogenic RV cardiomyopathy (14%), they wrote.
“Diagnostic testing was suboptimal and patients may be missing out on lifesaving treatment with ICD or pacemaker,” Charron said in the release.
The researchers called for expert centers to diagnose and manage patients with cardiomyopathies, with capabilities including ability to identify life-threatening arrhythmias, use of MRI and other tests to check heart function, ability to investigate rare causes of cardiomyopathy, performance of genetic tests in patients with cardiomyopathies and subsequent screening of relatives of patients with a known mutation. – by Erik Swain
Disclosures: Charron reports he receives personal fees from Amicus, Boehringer Ingelheim, MyoKardia and Novartis; nonpersonal support from Genzyme; grants and personal fees from Sanofi and Shire; and personal fees and nonfinancial support from Servier. Please see the full study for all other authors’ relevant financial disclosures.
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