Irish Inherited Cardiac Conditions Network

Inherited cardiovascular conditions (ICCs) are a group of monogenic disorders affecting the heart, its conduction system or vasculature. Many of the conditions included in the ICC term are rare diseases (prevalence of less than 1 in 2000). These include primary arrhythmia syndromes, some cardiomyopathies, and inherited arteriopathies such as Marfan syndrome. Early identification of affected individuals facilitates appropriate intervention which can alter the natural history and protect against life-threatening arrhythmia.

Diagnosis and Management

The first indication of a familial ICC may be the sudden, unexpected death of a healthy young person; other relatives are frequently at unbeknown risk. Research suggests that for every individual (living or deceased) with an inherited condition, family screening can identify nine additional affected relatives, allowing appropriate interventions for these “at-risk” persons. Many of these conditions have variable penetrance and clinical features, so identifying and treating at risk individuals is considered to be the remit of Specialist Services, requiring multidisciplinary input from Cardiologists (adult and paediatric), Specialist Nurses, Cardiac Physiologists, Geneticists, Genetic Counsellors, and access to Counselling services.

Service Provision

Three Specialist Centres in ICC exist in the Republic of Ireland. The CRYP Centre in Tallaght University Hospital (TUH) and the Family Heart Screening Clinic (FHSC) in Mater Misericordiae University Hospital (MMUH), open since 2006, cater principally for adults with, or at risk from, ICC. Both services were developed locally, at physicians’ behest, in response to an unmet clinical need, and still have some reliance on fundraising by, and donations to CRY Ireland and Mater Foundation Charities respectively. In Children’s Health Ireland – Crumlin (CHI Crumlin), a dedicated ICC service has been established in collaboration with the genetics department and colleagues across Dublin City.

All three services are provided by a Consultant-led multidisciplinary team and work in collaboration, along with the Department of Clinical Genetics, CHI Crumlin, The Next Generation Sequencing Laboratory in MMUH, and The Marfan Syndrome Clinics, MMUH. Clinical diagnostic services are provided at all three sites, with individualised management plans and long-term follow up provided. Cascade clinical testing of family members is provided as appropriate.

Genetic testing is also provided at all three sites – both diagnostic and cascade family testing. In collaboration with inherited cardiac diseases services for Northern Ireland, located in Belfast, we formed a de facto ICC Irish network (IICCN). A monthly case conference is attended by members of the IICCN and staff are also involved in multidisciplinary clinics for hereditary neuromuscular conditions including transitional services from paediatric to adult care.

In response to the clinical diagnostic, patient management, patient registry and research needs of families with ICCs, the clinical leads from all three Dublin ICC Specialist Centres have agreed to develop care plans and registries for all the ICC in collaboration with the genetics team. This development places our Irish Inherited Cardiac Conditions Network at the forefront of best practice in ICC care.