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Introduction
Heart conditions which pass down through the generations, such as long QT syndrome (LQTS) or hypertrophic cardiomyopathy (HCM) are much more common than was believed only ten years ago. Carriers of the genetic change behind LQTS occur in about 1 in 2,000, and in HCM, about 1 in 500. While these conditions can have very serious consequences, the good news is that relatively simple medical management can be extremely effective. For example, for those with long QT syndrome, a daily medication ( a beta blocker) and avoidance of certain other medications (http://www.qtdrugs.org/) may be all that is required. Some people with HCM may require a pacemaker-defibrillator. Most of these inherited, genetic conditions are “autosomal dominant“, meaning that they usually affect male and female equally, and about half of the family members will carry the defective gene.
Good counselling, and good medical management for the patient and their families is imperative.
If you have, or are suspected of having, an inherited disease of the heart, and you live in New Zealand, the Cardiac Inherited Disease Group can help you by putting you in touch with your best local advisors. You can also consider enrolling with the Cardiac Inherited Diseases Registry. This can be done by contacting Jackie Crawford, registry coordinator, whose address is at the end of this form. Alternatively you can initiate this through one of your local specialists throughout New Zealand.
Please take the time to read through these information sheets about the Cardiac Inherited Disease Registry and about the condition you believe may be affecting you and your family. If you have any questions feel free to contact the Registry co-ordinator, or ask your Specialist.
Information regarding the Cardiac Inherited Disease Registry
Some heart diseases can be inherited, passed down through generations in a family from parents to children, at times apparently skipping generations.
The Cardiac Inherited Disease Registry has been created in response to the need for a specialist co-ordinated service for affected families and the clinicians that look after them. We hope to make the process of identifying and screening potentially affected family members easier and more efficient for the families and doctors alike.
Cardiac inherited diseases vary in severity, even within a family. Some individuals may develop only a very mild form of the disease or be completely unaware of it, while others in the same family may become very ill, or even die unexpectedly, sometimes at a young age. For this reason, families with such conditions will be better managed if they are included in a disease or condition-specific registry.
The Registries for each of the conditions will be co-ordinated by Jackie Crawford, based at the Starship, Auckland City and Green Lane Hospitals. Her work is medically supervised by Dr Jon Skinner, Paediatric Cardiologist and Electrophysiologist, (heart rhythm specialist) and Dr Jim Stewart, Adult Cardiologist at Auckland City Hospital. Many specialists thoughout New Zealand are actively involved with this registry.
Which Inherited heart diseases will be included in the Registry?
Currently we are including data on families and individuals affected by:
¨ Long QT syndrome (LQT)\Brugada,
¨ Hypertrophic Cardiomyopathy (HCM),
¨ Dilated Cardiomyopathy (DCM)
¨ Arrhythmogenic Right Ventricular Dysplasia
¨ Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Other Cardiac Inherited diseases, which may be added in the future include:
Familial Dyslipidaemia,
Marfans Syndrome
What is the Purpose of setting up a Registry?
The purpose of setting up this Registry is to collect information to help patients and families affected by Cardiac Inherited Disease, and the Doctors, who are looking after them. Specifically the aims are to:
¨ Co-ordinate standardised diagnostic screening tests for relatives of affected individuals.
¨ Provide a reliable source of information to individuals, families and the medical community about specific cardiac inherited diseases.
¨ Offer genetic (DNA) testing when this is available. This may enable early diagnosis to be made in those with uncertain heart test results and guide appropriate treatment and prevention strategies to be undertaken. Accurate genetic counselling- as to risk of passing on the disease to offspring- can also depend on this.
¨ Initiate gene-specific therapies if they become available.
¨ Assess the prevalence of Cardiac Inherited disease, to assist with healthcare planning and resource provision.
Resources
¨ Medications to be avoided in Long QT.
¨ Potassium Rich Food
If you are interested in joining the Cardiac Inherited Disease Registry, you should also read the information sheet outlining the features of the particular heart condition you or your family is suspected of having. If you have any questions relating to your decision to participate in the Registry please feel free to either contact the Registry co-ordinator and/or discuss them with your Specialist.
If you would like a link to a tutorial on the electrical activation of the normal heart, click here.
A you would like a link to the Cardiomyopathy Association of Australasia click here.
If you would like information booklets from the UK arrhythmia alliance group- pertaining to many aspects of heart rhythm problems, including catheter ablation of heart rhythm problems, and information about the investigation of blackouts, click here.
For information for families about hypertrophic cardiomyopathy from the American Heart Association, click here.
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