Inherited Cardiac Conditions
Information for Healthcare Professionals
Introduction
The inherited cardiovascular conditions (ICCs) are a group of monogenic disorders caused by mutations in genes encoding components of the contractile apparatus and electrical system of the heart or its vasculature. ICCs can affect individuals of all ages and are associated with an increased risk of cardiovascular morbidity and mortality, including sudden cardiac death. The major categories of ICCs include:
Cardiomyopathies caused by mutations in genes encoding proteins of the contractile apparatus scaffolding of the cardiac myocytes. The main cardiomyopathy pehnotypes are hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), non-dilated left ventricular cardiomyopathy (NDLVC), arrhythmogenic right ventricular cardiomyopathy (ARVC) and restrictive cardiomyopathy (RCM).
Inherited arrhythmia syndromes caused my mutations in cardiac ion channel genes that encode the proteins involved in generating the cardiac action potential. Inherited arrhythmia syndromes include long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycaardia (CPVT) and short QT syndrome (SQTS).
Aortopathies caused by mutations in genes encoding connective tissue proteins of the vasculature and other organs. Aortopathy syndromes include Marfan syndrome, Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome.
Muscular dystrophies with cardiac involvement, including Emery-Dreifuss muscular dystrophy and myotonic dystrophy.
Familial hypercholesterolaemia (FH) and other disorders of cholesterol metabolism that cause premature coronary artery disease.
Association for Inherited Cardiac Conditions (AICC)
The Association for Inherited Cardiac Conditions (AICC) is a national organisation which brings together a network of expertise from all over the UK, who work together with patient representatives, healthcare professionals and voluntary organisations to support improvements in the diagnosis, treatment and outcomes of people with ICCs.
Education and Training
The development of an advanced training programme in Inherited Cardiovascular Conditions (ICC) within the Paediatric Cardiology training curriculum responds to the emergence of national commissioning of ICC services In England, and acknowledges the need to provide specialist diagnostics and management to patients with ICC. Paediatric cardiology trainees wishing to develop expertise in ICC will need a detailed knowledge of this emerging branch of medicine and will have competencies in the genetic components relevant to all ICC categories, but the syllabus is designed to allow trainees to tailor training toward one or two of the ICC categories and to complete training in a complimentary sub-specialty. Paediatric ICC specialists will also have a considerable teaching commitment to educate general paediatric cardiologists, paediatricians and general practitioners about these conditions and their treatment. It is expected that all paediatric cardiology trainees should have a basic understanding of the diagnosis, assessment and management of paediatric ICC.
Duration of Training
The curriculum is designed to allow paediatric cardiology trainees to develop an interest in ICC. It is expected that trainees wishing to become paediatric ICC specialists and lead a regional paediatric ICC service will require a two year programme of clinical training in ICC, including additional post-CCT training.
It is envisaged, however, that a one-year programme of clinical training in ICC could be combined with a further year in other relevant sub-specialties as part of a modular sub-specialty training scheme (e.g. Advanced Heart Failure and Transplantation; Electrophysiology; Advanced Imaging) for trainees planning a career in general paediatric cardiology with an interest in ICC.
Research
It is necessary for the trainee to undertake research in this evolving field of cardiology. Obtaining a higher degree is desirable but not essential.
Key documents
Updated Professor Juan Kaski Nov 2024