North of England Cardiac Family History Service
The North of England Cardiac Family History Service (NECFHS) is a pioneering network-wide pilot project based at Sunderland Royal, Freeman and James Cook Hospitals.
The team consists of three cardiac genetics nurses, supported by a consultant geneticist, genetic counsellors, consultant cardiologists and lipidologists. The project has been funded by the British Heart Foundation, the North of England Cardiovascular Network, and Industry.
Inherited cardiac conditions
Collectively, inherited cardiac conditions (ICCs) are common. 1 person in 250 is believed to have either hypertrophic cardiomyopathy (at least 50% of which is hereditary) or familial hypercholesterolaemia. Prevalence rates are estimated currently and some are listed below:
| Minimum estimated prevalence | % genetic | |
| Hypertrophic cardiomyopathy | 1 in 500 | >50% |
| Dilated cardiomyopathy | 1 in 250 | 40 – 50% |
| Long QT syndrome | 1 in 5000 | 100% |
| Arrhythmogenic right ventricular cardiomyopathy | 1 in 5000 | 100% |
| Familial hypercholesterolaemia | 1 in 500 | 100% |
| Marfan syndrome | 1 in 5000 – 1 in 10000 | 100% |
The service
The NECFHS considers three key disease areas:
- cardiomyopathy (hypertrophic, dilated, restrictive)
- familial hypercholesterolaemia
- sudden unexplained death in those under 40
- (Inherited arrhythmias are relatively rare and warrant direct tertiary referral to the Genetics Department)
Only a proportion of cases represent true inherited diseases that require tertiary assessment. While cardiomyopathies and ‘cholesterol problems’ may appear to cluster within families, some of this is the result of clinical heterogeneity (people in the same family with similar disease, but with different underlying causes), which gives the false impression of an inherited disorder.
The NECFHS willprovide expert assessment at secondary care level of a family in which an ICC is suspected, by obtaining an accurate family history, appropriate clinical investigations, and if appropriate, cascade testing of relatives (according to the NECVN approved CARDIGEN Guidelines – see below).
We aim to:
- Reduce mortality and morbidity from ICCs by identifying at risk individuals and cascade screening of their families.
- In collaboration with the British Heart Foundation (BHF) Genetic Information Service, the pilot will provide a single point of contact to enable an urgent referral service for families who have experienced a sudden unexplained death.
- Provide tailored information, advice, education and support for families.
- Act as a resource for health care professionals in regard to ICCs.
Referral to the service:
- Referral to the service can be made by letter by GPs, hospital consultants, or a health care professional through a doctor.
- If you are unsure if a referral is appropriate or would like more information please contact the cardiac genetic nurse for your area.
Information and contacts
Contact details:
Julie Goodfellow
BHF Cardiac Genetics Nurse
Freeman Hospital
Tel: 0191 2231307 julie.goodfellow@nhs.net
Jan Oliver
BHF Cardiac Genetics Nurse
Sunderland Royal Hospital
Tel: 0191 5410118 jan.oliver@nhs.net
Angela Hammond
BHF Cardiac Genetics Nurse
The James Cook University Hospital
Tel: 01642 835938 angelahammond1@nhs.net
CARDIGEN Guidelines
CARDIGEN guidelines for referral to this service and to the Northern Genetics Service for families with inherited cardiac conditions are approved by the North of England Cardiovascular Network (NECVN).
