Familial Electrical Diseases Group Meeting
The second meeting of the experts in the Thematic Area Familial Electrical Diseases was held in Vienna, Austria, on 20 June 2017, during the EHRA EUROPACE – CARDIOSTIM Congress. This Thematic Group is led by Dr. Carlo Napolitano and Dr. Silvia Priori, from the Clinical Scientific Institutes Maugeri IRCCS in Pavia, Italy. The list of participants included Carlo Napolitano, Arthur Wilde (AMC Amsterdam), Eric Schulze-Bahr (University Hospital Munster), Elijah Behr (St George’s Healthcare NHS Trust), Georgia Sarquella-Brugada (San Juan de Déu Barcelona’s Children Hospital), Philipe Chevalier (Louis Pradel Cardiovascular Hospital), Perry Elliott (Barts Health NHS Trust), Anita Hiipala (Helsinki University Hospital), Peter Schwartz (Instituto Auxologico Italiano IRCCS), and Rik Willems and Tomas Robyns (University Hospitals Leuven).
The Coordinator of the Network, Arthur Wilde, opened the meeting and requested all participants to keep track of ERN-related events (i.e. publications, presentations, interviews, etc.) of their centre, and to send a list of these activities to the Project Management Office. Moreover, he emphasized the importance of widespread attention and dedication among all ERN GUARD-HEART members. After the opening, several important points were brought into the attention of the participants, including the Connecting Europe Facility TELECOM 2017 Call (see further and also ERN GUARD-HEART Newsletter of March 2017), the Network Agreement (see page 2 of this Newsletter), and the website of ERN GUARD-HEART.
At the meeting, ERN members agreed upon the need for specific patient information materials for the different diseases that are within the scope of ERN GUARD-HEART. Since most HCPs do have such materials in place, the Project Management Office has sent a request to the HCPs to collect the information materials (and has received such materials from some of the HCPs). In addition, Thematic Area Leaders were asked to formulate a minimum set of requirements for the patient materials (as to what sort of information the materials should contain).
Next, ERN members discussed the need for clinical guidelines for diseases that are within the scope of ERN GUARD-HEART. They indicated that for most of the diseases guidelines may probably not be needed because the existing guidelines and expert consensus reports are from recent date or because the diseases are being dealt with by the European Society of Cardiology (ESC), European Heart Rhythm Association (EHRA), and/or the Heart Rhythm Society (HRS). However, an exception might be dilated cardiomyopathy.
ERN members made a list of current initiatives on registries or ongoing registries that could be part of ERN HEART-GUART. For familial electrical diseases, current and/or ongoing registries include:
- CALM genes: Peter Schwartz (Instituto Auxologico Italiano IRCCS, Milan, ongoing with participation of many ERN members)
- CPVT international registry: Arthur Wilde (AMC, Amsterdam, ongoing with participation of many ERN members)
- Brugada syndrome: proposed by Pier Lambiase (Barts Health NHS Trust, London, UK)*
- Brugada syndrome GWAS: Connie Bezzina (AMC, Amsterdam, ongoing with participation of many ERN members)
- Long QT syndrome GWAS: Connie Bezzina (AMC, Amsterdam, ongoing with participation of many ERN members)
- Rare long QT syndrome types registry: Georgia Sarquella-Brugada (San Juan de Déu – Barcelona’s Children Hospital; 3 of 9 eligible grants will be funded; decision in July 2017).
* Regarding the Brugada syndrome registry it must be checked whether such a registry is compatible with the UK registry or can be complimentary, for example by using the same web-based database.
For familial cardiomyopathies, current and/or ongoing registries include:
- Patients with a genetic variant in PRAKG2 gene: proposed by Philippe Charron (AP-HP Pitié Salpêtrière Hospital, Paris)
- Patients with a genetic variant in LMNA gene
- Danon disease
Another important issue that was discussed during the 2nd Meeting of the Thematic Area Group on Familial Electrical Diseases was to design plans for future educational programs in cardiogenetics. In this regard, existing teaching courses on cardiogenetics provided by the European Society of Human Genetics (ESHG) were brought into attention. Members of the Network suggested the idea to initiate a platform to facilitate discussions on future educational programs between Network members and representatives of the ESC Working Group on Myocardial and Pericardial Diseases, EHRA, ESHG, and the Association for European Cardiovascular Pathology (AECVP). A letter of invitation has been sent to ESC, and ESHG has also been approached.
At the end, the recently initiated collaboration between AMC Amsterdam (on behalf of ERN GUARD-HEART) and patient advocacy group “Hart4Onderzoek” (Heart4Research) was announced. A meeting to start a collaboration with EURORDIS is scheduled at the end of July 2017. All representative HCP members were asked to propose patient advocacy groups that are willing to be involved in this collaboration.