Rare cardiac diseases are characterised by a wide diversity of symptoms and signs that vary not only from disease to
disease but also from patient to patient suffering from the same disease. ERN HEART will be a broad thematic ERN,
encompassing all rare cardiac diseases,conditions and procedures with a unifying objective: ‘Excellence in diagnostics and
treatment of rare cardiac diseases throughout life’. It will accommodate the intensity of clinical symptoms and pathology
concerning arrythmias (electrical diseases), cardiomyopathies, congenital heart diseases and other rare cardiac diseases in
both adults and children.
The mission of ERN HEART is to facilitate access to highly specialised diagnosis and treatment of rare and complex
heart diseases in both adult and paediatric patients across the European Union. ERN HEART brings together, in its startup
phase, a geographically diverse group of 24 expert healthcare providers from 12 different Member States committed to
patient-centred care, efficient practice based on evidence, knowledge sharing and education, and translational research. The
initial focus will be on genetically transmitted heart disease and several specific procedures in paediatric patients. During the
first year ERN HEART will be open to other expert centres also with a focus on congenital heart disease and other
(mainly non familial) rare cardiac diseases. By pooling knowledge and expertise, ERN HEART aims to provide better,
safer, more efficient healthcare to all European patients with rare and complex cardiac conditions on the basis of the best
evidence and value available.

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ERN GUARD-Heart is an European Reference Network for rare or low prevalence complex diseases of the heart. In 2017, the Network brought together 24 expert HCPs from 12 EU Member States and established an organisational structure that facilitates planning, organising, leading and controlling the efforts and resources of the ERN to achieve the goals and objectives as defined in its multiannual Work programme 2017-2021 for the Framework Partnership Agreement (FPA). To ensure a feasible and smooth deployment of the Network, in the initial phase, the Network covers 3 thematic areas (Familial electrical diseases, Familial cardiomyopathies, and Special electrophysiology conditions in children). In the 2nd year, pending official announcement of ERN extension rules, the Network aims to address 2 more areas (Congenital Heart Diseases and Other rare cardiac disease). The Network Members aim to provide better, safer, more efficient healthcare to all European patients with rare cardiac conditions on the basis of the best evidence available and (to foster transparency) through a global communication strategy. To achieve this purpose, the Network has defined 7 overarching goals in its multiannual Work programme for the FPA. Per goal, a number of specific objectives to be accomplished per year have been formulated. To achieve the formulated objectives for year 2 of the FPA, the Network will perform the following activities in the 2nd year: Network completion with 2 more thematic areas (see above), provision of networking services (meetings/conferences organisation, data gathering/sharing/dissemination, sharing of best practices), provision of training materials for health professionals), organisation of patient-physician meetings, and provision of safe and quality care to patients with rare cardiac diseases (by providing second opinion consultation service through CPMS, cross-border patient pathways, identification and development of PROMS, and development of internal benchmarks).

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The mission of ERN GUARD-Heart is to facilitate access to highly specialised diagnosis and treatment of rare and complex heart diseases in both adult and paediatric patients across the European Union. ERN GUARD-Heart started with a geographically diverse group of 24 expert healthcare providers from 12 different Member States committed to patient-centred care, efficient practice based on evidence, knowledge sharing and education, and translational research.
The initial focus is on genetically transmitted heart disease and several specific procedures in paediatric patients. By pooling knowledge and expertise, ERN GUARD-Heart network members aim to provide better, safer, more efficient healthcare to all European patients with rare and complex cardiac conditions on the basis of the best evidence and value available. To achieve this purpose, the network members have defined a common strategy oriented by the following principles:
• To generate, share and spread knowledge and evidence in the diagnosis and treatment of rare/complex heart diseases within and outside the network.
• To implement processes of healthcare delivery focussed on clinical outcomes and patient experience while maximising the cost-effective use of resources.
• To develop internal benchmarks and best practices to advance the quality and safety of care processes within and outside the network.
• To ensure cross-border accessibility to safe high quality healthcare to patients affected in all countries of the European Union.
• To promote innovation and translational research in the area of rare and complex diseases.
Healthcare Providers (HCPs) that participate in the Network are reference centres with accredited expertise in the provision of a wide range of services, including prevention (counselling and genetic screening), acute care, outpatient care, diagnostics, interventional therapeutic services, rehabilitation, social care services, palliative care, and family support.

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The main objective of this application is to develop a comprehensive approach for rare disease registration in ERN GUARD-Heart by establishing the first overarching registry of ERN GUARD-Heart (the Heart-Core Registry) using standards and tools provided by the European Platform on Rare Disease Registration (EU RD Platform). To harmonize data and facilitate semantic interoperability, in the Heart-Core Registry a minimal dataset (including the Set of Common Data Elements for Rare Diseases Registration provided by the European Commission’s Joint Research Centre) will be prospectively collected for new patients in the ongoing ERN GUARD-Heart registries and in the future ERN GUARD-Heart registries. In addition, the Heart-Core Registry will signpost users to the detailed disease- or gene-specific ERN GUARD-Heart registries. To render its data more searchable and findable, the Heart-Core Registry will be registered on the European Rare Disease Registry Infrastructure (ERDRI). It is expected that the activities proposed in this application will facilitate ERN GUARD-Heart to reach its goals and specific objectives, create a cost-effective and comprehensive approach of rare disease registration in the ERN GUARD-Heart, lead to increased awareness of ERN GUARD-Heart patient registries and improved reusability of data in these registries among various stakeholders, and enable better interaction among rare disease registries in Europe.
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