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Introduction
This page contains information and resources aimed at physicians dealing with people with inherited cardiac disease. It is in gradual development. Suggestions for items you would like included are welcome.
What is the Cardiac Inherited Disease (CIDG) registry?
This is a clinical registry of individuals and families in New Zealand with an inherited Heart Disease. Information about individuals is stored with their consent, or with the consent of their parent or guardian. It is primarily a clinical tool to help coordinate the effective screening of families for members at risk. The clinical coordinator is Jackie Crawford under the clinical supervsion of Drs Jon Skinner and Jim Stewart.
Enrolling a patient in the Cardiac Inherited Disease registry.
It is planned that patients may be able to pre-register themselves through this website, but this feature isn't yet functional. For now, registration is used using forms which we can send to you. You will soon be able to download all forms from this website.
Arranging for genetic testing.
Genetic testing for long QT syndrome and hypertrophic cardiomyopathy (HCM) is available through the health service, via lab Plus in Auckland. Only specialist cardiologists or geneticists may order such testing. Testing is coordinated via CIDG, and enquiries should be directed to Jackie Crawford (see contacts below). Clinical enquiries re long QT syndrome are directed to Dr Jon Skinner at the Starship Hospital, and regarding hypertrophic cardiomyopathy to Dr Jim Stewart at Auckland City Hospital, or Jenny Warrington at the Northern regional genetics service. Advice and guidance is also available from the Central and Southen regional genetic service via Dr Kate Neas.
Genetic testing for catecholaminergic polymorphic ventricular tachycardia (CPVT) is available in a restricted manner as a research tool at present via Auckland University. Enquires should be directed to Jon Skinner.
Genetic testing for arrhythmogenic right ventricular cardiomyopathy (ARVC) is available in a restricted manner via a relationship with the Statens Institute, Denmark. Clinical enquires are to Dr Warren Smith, adult cardiologist, Auckland City Hospital.
Tests for other conditions, such as dilated cardiomyopathy can sometimes be arranged through other international collaborations.
Information on enrolling patients into the Cardiac inherited disease registry
Enrollment in the registry is a two part process, involving separate informed consent for each part. The first part is the clinical registry, wherein clinical data are stored pertinent to the evaluation of the cardiac disease in question. The second is the consent for DNA storage and genetic testing. If the aim is to perform genetic testing, it is strongly recommended that both forms of consent are obtained, not least because the interpretation of the genetic results should not be made out of context of the clinical condition. Furthermore, the clinical registry is the medium though which patients and families can receive periodic clinical or other updates, such as new research findings or potential new therapies.
All data are stored in a secure and confidential manner. Information is not released to a third party without consent, and personal details can thus be withheld from other family members and general hospital notes if required. Any member may withdraw from the registry at any time.
When offering registration to a family, please inform Jackie Crawford (below), who can also help with advice with regard to process, and practicalities of genetic testing and clinical family screening.
Each person must read form 1A, and the form 1B pertinent to them, before signing forms 2C and 2B. They should be allowed plenty of time to do this, many will take the forms home, and send them back to their physician, having signed the forms in front of a witness.
¨ Form 1A: General Registry information sheet.
¨ Form 1Ba: Arrhythmogenic Right Ventricular Cardiomyopathyinformation sheet.
¨ Form 1Bb: Catecholaminergic Polymorphic Ventricular Tachycardia information sheet.
¨ Form 1Bc: Dilated Cardiomyopathy information sheet.
¨ Form 1Bd: Hypertrophic Cardiomyopathy information sheet.
¨ Form 1Be: Long QT Syndrome information sheet.
Consent Forms
¨ Form 2B: Consent form for Blood/DNA extraction for molecular genetic testing.
¨ Form 2C: Consent form for clinical information.
¨ Form 2A: Consent form for the storage of DNA only.
Physician information sheets.
¨ Long QT Type 1 (KVLQT1)
¨ Long QT type 2 (Herg)
¨ Long QT type 3 (SCN5A)
¨ No mutation identified
Resources
A continuously updated record of drugs to avoid in long QT syndrome is found at http://www.qtdrugs.org
¨ Medications to avoid in Long QT Syndrome.
¨ Potassium rich foods.
An article on the clinical clues pointing to arrhythmic syncope in young people, written on behalf of CIDG by Jon Skinner can be found at http://www.virtualmedicalcentre.com/news.asp?artid=11515
Information for families about hypertrophic cardiomyopathy written by Barry Maron on behalf of the American Heart Association can be found by clicking here.
A key journal article dealing with risk stratification of patients with long QT syndrome was written in the New England Journal of Medicine in 2004 by Priori et al, based on data from the international LQT registry (click here). The Cardiac Society and National Heart Foundation long QT guidelines are found under links. Further information is available under the general information elsewhere on this site.
Contacts
Jackie Crawford
CIDG Registry Coordinator, PCCS, Starship Hospital, Grafton, Auckland, New Zealand
jackiec@adhb.govt.nz
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