Joan Anusas Cardiomyopathy Nurse Specialist Inherited Cardiac Conditions Clinic

Transcription

1 Joan Anusas Cardiomyopathy Nurse Specialist Inherited Cardiac Conditions Clinic

2 Background to clinic Cardiomyopathy Nurse Specialist post created in March Post funded by Cardiomyopathy Association Following induction programme in Heart Hospital in London, Cardiomyopathy Clinic established in Western Infirmary, Glasgow. Inherited Cardiac Conditions Clinic established in August 2008.

3 National Service Framework for CHD Chapter 8, Arrhythmias and Sudden Cardiac Death Evaluation of families who may have inherited cardiac disease takes place in a dedicated clinic, with staff who are trained in diagnosis, management and support for these families. Genetic counselling and further testing is available if appropriate John Reid, Health Secretary (2005)

4 ICCC staff ( 7 staff) Consultant Cardiologist Consultant Clinical Geneticist Genetic Counsellor Senior Echo Technician Specialist Nurse Clinic Co-ordinator Audio Typist

5 Family screening and genetic testing are now possible. Allowing prompt treatment reducing morbidity and avoidance of sudden death.

6 Referral guidelines Any patients over the age of 16 years Any patient with Hypertrophic Cardiomyopathy, Left Ventricular Noncompaction or Arrhythmogenic Right Ventricular Cardiomyopathy Family history of young, sudden and unexplained death.

7 Dilated Cardiomyopathy Patients with DCM, other causes of DCM ruled out e.g. IHD, valvular disease, haemochromatosis. Family history of cardiomyopathy, sudden, young or unexplained death, or heart problems in the family Patient < 50 years old Patient has a conduction disorder or history of neuromuscular conditions.? Aetiology is pregnancy related or alcohol or lifestyle related referral accepted.

8 Referrals to ICCC (continued) Patients that could develop cardiomyopathy secondary to other condition Metabolic disorders fabrys disease, Mitochondrial disorders barth syndrome, friedreich s ataxia Primary Muscle disorder beckers muscular dystrophy, duchenne muscular dystrophy, myotonic dystrophy, limb girdle muscular dystrophy Follow up of symptomatic patients, transitional care from children to adult services, gene positive patients follow up.

9 What happens in ICCC clinic Patient seen by genetic staff and family tree collected. Seen by cardiologist for diagnosis clarification more relevant for HCM, ARVC patients DCM or HCM bloods DCM LFTs, TFTs, Troponin, Lipids, Glucose, Lactate, CK, Ferritin DCM patients neuromuscular examination Genetic testing if consent obtained Consents obtained e.g. consult PM reports, consult medical records, obtain tissue from deceased for genetic testing. Confirmation of diagnosis and tracing of relatives with consent. Genetic counselling

10 Genetic Testing Hypertrophic Cardiomyopathy ( HCM) autosomnal dominant 40% chance of finding a pathogenic mutation. 75% chance of finding a mutation if there is a family history. 20% chance of finding a mutation in late onset HCM Dilated Cardiomyopathy ( DCM) autosomnal dominant, recessive, x linked 30% chance of finding a mutation if there is a family history 20% chance of finding a mutation for single case in family 1000 to carry out mutation analysis on DNA for cardiomyopathy. NHS tests a proportion of gene mutations known to cause cardiomyopathy.

11 Patient with HCM or DCM Pathogenic Gene Mutation Found Pathogenic Gene Mutation Not Found Genetic Counsellor Nurse Specialist Identlify Relatives for Genetic Testing Identify relatives for clinical screening gene +ve gene -ve Arrange clinical screening at local hospital Clinical Screening of family members found to carry the gene. Arrange genetic testing of first there first degree relatives. If clinically affected, refer to local cardiologist for ongoing follow up Discharge If clinically unaffected, follow up through ICCC Clinically Affected see at ICCC, start treatment, decide follow up plan and arrange clinical screening of first degree relatives. Clinically Unaffected follow up plan depending on age and screening guidelines

12 Pedigree DCM SCD Died aged 45 MI DCM 3

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14 Role of Nurse Co-ordinate family clinical screening programme Assertive recall of patients for screening. Liaison with other HCPs MDT meetings with team at Heart Hospital (videoconferencing), Monthly MDT with Arrhythmia team at Golden Jubilee. Work closely with cardiac charities Contact Point for advice, support and questions e.g. exercise, work, insurance. Support and reassurance especially sudden death family or diagnosis of Cardiomyopathy in young person.

15 BHF ADVERT 2014 it means my heart could stop suddenly

16 Issues for Cardiac Nurse Specialist Get to know your local clinical genetics service - West, East, North, South East Scotland Discuss with cardiologist if patients with DCM of unknown aetiology. The skeletal muscle disease may be very subtle. Consider referral to geneticist and/or neurologist. Patients with advanced heart failure - difficult to do genetic testing if patient deceased, genetic bloods can be taken with consent from NOK. Better to co-ordinate screening programme through ICCC. Database to record follow up programme. No point arranging echo and ECG if we can carry out predictive genetic test.

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