|
|
|
Physician Information |
 |
|
|
Introduction:
This page contains information and resources aimed at physicians and counsellors dealing with people with inherited cardiac disease.
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 (jackiec@adhb.govt.nz) under the clinical supervision of Drs Jon Skinner, Jim Stewart, Warren Smith and Ian Hayes.
Enrolling a patient in the Cardiac Inherited Disease registry:
Physicians and Geneticists affiliated with CIDGNZ may enrol patients in the registry. Formal consent from the patient or guardian is required (see below).
Genetic testing:
What can we test for?
Molecular genetic testing, coordinated by CIDG, is available for Long QT syndrome, Brugada syndrome, Progressive Cardiac conduction disease (PCCD) and Hypertrophic cardiomyopathy (HCM). The testing laboratory may change from time to time according to levels of service and fees. All samples are processed through Lab Plus in Auckland.
On a research basis, testing may be available for CPVT (Catecholaminergic Polymorphic Ventricular Tachycardia) and ARVC (Arrhythmogenic right ventricular cardiomyopathy). Contact the coordinator or lead clinician (below) first in these cases.
For advice from a CIDG cardiologist – Contact Jon Skinner regarding Long QT syndrome, Brugada, CPVT and PCCD, Warren Smith regarding ARVC and Jim Stewart regarding HCM. All are based in Auckland district health board (09) 367 0000.
How is Molecular genetic testing arranged?
Testing can only be arranged by CIDG approved clinicians. Most are cardiologists, clinical geneticists or paediatricians. Testing may not be ordered by family practitioners, nursing staff or junior medical staff.
Who Pays for it?
The referring health board receives a bill from Lab Plus, just like another diagnostic test.
How much does it cost?
The cost of testing a family member for a known mutation (“cascade testing”) is approximately $300 NZD.
The cost of a diagnostic screen for Long QT syndrome is approximately $2,500NZD, HCM $2,500NZD, Brugada $1,500 NZD and PCCD $1,500 NZD.
How long does it take?
Cascade testing takes about two months. Proband testing takes about four months.
Potassium rich foods.
Information for families about hypertrophic cardiomyopathy written by Barry Maron on behalf of the American Heart Association can be found by clicking here.
Cardiac Society Guidelines (Australia and New Zealand) on long QT syndrome, Marfan Syndrome and Familial hypercholesterolaemia, updated in 2009, are available- just click on the blue words in this sentence.
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).
Contacts
Jackie Crawford
CIDG Registry Coordinator, PCCS, Starship Hospital, Grafton, Auckland, New Zealand.
jackiec@adhb.govt.nz
Telephone (+64 9 3074949... ext 23634)
Also Team Support at the same phone number. email address: - cidgadmin@adhb.govt.nz
|
|
|
| |
|