238th ENMC International Workshop: Updating management recommendations of cardiac dystrophinopathy Hoofddorp, The Netherlands, 30 November-2 December 2018
Abstrakt
Twenty four neuromuscular experts, cardiologists, patient representatives and a trainee, supported by the ENMC Young Scientist Programme, from seven European countries (Belgium, Czech Republic, France, Germany, Italy, Netherlands, United Kingdom) and the United States participated in the workshop, held in Hoofddorp, the Netherlands. The aims of were to: (1) agree diagnostic standards, thresholds for initiating therapy and an optimal therapy regime for cardiac dystrophinopathy; (2) determine whether there are clinically relevant genotype-phenotype correlations for cardiomyopathy in DMD; (3) review current knowledge on the potential of genetic therapies to prevent cardiac dystrophinopathy and (4) agree on guidance for the use of implantable cardioverer defibrillators and left ventricular assist devices in the management of patients with advanced cardiomyopathy.