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Cardiac genetics (A/P-AFF)

Adult and Paediatric Conditions in AFFECTED Patients

Emergency referrals

If any of the following are present or suspected, refer the patient to the emergency department (via ambulance if necessary) or seek emergent medical advice if in a remote region.

  • No referrals to emergency relating to clinical genetics

Does your patient wish to be referred?

Minimum referral criteria

Does your patient meet the minimum referral criteria?

Category 1

Appointment within 30 days is desirable

  • The patient has a personal and/or any family history (blood relatives) of a cardiac genetic diagnosis AND the patient or their partner is pregnant and an opinion/genetic testing will guide investigations, management, and outcome in pregnancy

Category 2

Appointment within 90 days is desirable

  • The patient has a personal history of a cardiac genetic diagnosis AND is currently on or about to go onto a palliative care pathway
  • The patient has a personal and/or any family history (blood relatives) of a cardiac genetic diagnosis, where a specific gene mutation HAS been identified on a genetic test

Category 3

Appointment within 365 days is desirable

  • The patient has a personal and/or any family history (blood relatives) of a cardiac genetic diagnosis, where a specific gene mutation has NOT been identified on a genetic test

If your patient does not meet the minimum referral criteria

Consider other treatment pathways or an alternative diagnosis.

If you still need to refer your patient:

  • Please explain why (e.g. warning signs or symptoms, clinical modifiers, uncertain about diagnosis, etc.)
  • Please note that your referral may not be accepted or may be redirected to another service

Other important information for referring practitioners

Not an exhaustive list

  • The offer of an appointment by GHQ does NOT guarantee that the patient will be offered a publicly funded genetic test.
  • If there are any queries regarding the appropriateness of a referral please contact GHQ.
  • If the patient is an UNTESTED blood relative of a person with an identified gene mutation/chromosomal anomaly, please refer to the following CPC:
    • Unaffected (predictive/presymptomatic testing)
    • Affected (confirmatory testing)
  • Patients will be asked to provide detailed family information either during a telephone consultation or via a family history questionnaire. One or more ‘Consent to Release information’ forms may be provided to forward to family members to obtain their consent to confirm details of the reported family history.
  • The Queensland Cardiac Genetics Service is a collaborative multidisciplinary clinical service with both cardiology and clinical genetics staff in attendance. The clinics are primarily based at the Royal Brisbane and Women’s Hospital (adult) and Queensland Children’s Hospital (children), however regional clinics and telehealth appointments are also available.
  • Examples of conditions where individuals might be referred include a confirmed or suspected diagnosis/family history of:
    • ascending aortic aneurysm/aortopathy/vasculopathy
    • hypertrophic cardiomyopathy
    • arrhythmogenic right ventricular cardiomyopathy (ARVC)
    • left ventricular non-compaction (LVNC)
    • dilated cardiomyopathy
    • long QT syndrome
    • catecholaminergic polymorphic ventricular tachycardia (CPVT)
    • Brugada syndrome
    • sudden unexplained death in a young relative (less than 40 years of age)
    • familial hypercholesterolaemia
    • paediatric pulmonary hypertension
    • Marfan syndrome (please ensure an echocardiogram and ophthalmology review has been requested)
    • congenital heart defect

Referral requirements

A referral may be rejected without the following information.

Essential referral information

  • As much detail as possible about the patient’s personal history of disease including the following:
    • clear indication of clinical need for urgency (see above)
    • clinical diagnosis and features
    • age at diagnosis
    • treatment (completed and planned)
    • relevant pathology (if results are available on Auslab please indicate this on referral)
    • relevant organ specific diagnostic investigations and/or imaging results (especially ECG, MRI and echocardiogram) (if results are available within ieMR please indicate this on referral)
    • details and results of genetic testing if performed
  • Presence or absence of relevant family (blood relatives) history

Additional useful information (useful for processing the referral)

  • Known details of relevant family history (first and second-degree blood relatives) including:
    • clinical diagnosis/features and age at diagnosis
    • relation to patient including whether maternal or paternal
    • autopsy reports (where relevant and available)
  • If the family is known to GHQ, the GHQ reference number (GF)
  • If the family are known to another genetic service, the name of the service and family reference number (if available)

Request

  • General referral information/Standard information (Appendix 2, Consultation overview)
  • Notes
    • Please note that where appropriate and where available, the referral may be streamed to an associated public allied health and/or nursing service. Access to some specific services may include initial assessment and management by associated public allied health and/or nursing, which may either facilitate or negate the need to see the public medical specialist.
    • A change in patient circumstance (such as condition deteriorating, or becoming pregnant) may affect the urgency categorisation and should be communicated as soon as possible.
    • Please indicate in the referral if the patient is unable to access mandatory tests or investigations as they incur a cost or are unavailable locally.

Out of catchment!

Metro North Health is responsible for providing public health services to the people who reside within its boundaries. Special consideration is made for patients requiring tertiary care or services that are not provided by their local Hospital and Health Service. If your patient lives outside the Metro North Health area and you wish to refer them to one of our services, inclusion of information regarding their particular medical and social factors will assist with the triaging of your referral.

  • Impact on employment
  • Impact on education
  • Impact on home
  • Impact on activities of daily living
  • Impact on ability to care for others
  • Impact on personal frailty or safety
  • Identifies as Aboriginal and/or Torres Strait Islander

  • To establish a diagnosis
  • For treatment or intervention
  • For advice and management
  • For specialist to take over management
  • Reassurance for GP/second opinion
  • For a specified test/investigation the GP can’t order, or the patient can’t afford or access
  • Reassurance for the patient/family
  • For other reason (e.g. rapidly accelerating disease progression)
  • Clinical judgement indicates a referral for specialist review is necessary

  • Presenting symptoms (evolution and duration)
  • Physical findings
  • Details of previous treatment (including systemic and topical medications prescribed) including the course and outcome of the treatment
  • Body mass index (BMI)
  • Details of any associated medical conditions which may affect the condition or its treatment (e.g. diabetes), noting these must be stable and controlled prior to referral
  • Current medications and dosages
  • Drug allergies
  • Alcohol, tobacco and other drugs use

  • Full name (including aliases)
  • Date of birth
  • Residential and postal address
  • Telephone contact number/s – home, mobile and alternative
  • Medicare number (where eligible)
  • Name of the parent or caregiver (if appropriate)
  • Preferred language and interpreter requirements
  • Identifies as Aboriginal and/or Torres Strait Islander

  • Full name
  • Full address
  • Contact details – telephone, fax, email
  • Provider number
  • Date of referral
  • Signature

  • Willingness to have surgery (where surgery is a likely intervention)
  • Choice to be treated as a public or private patient
  • Compensable status (e.g. DVA, Work Cover, Motor Vehicle Insurance, etc.)

Send referral

Hotline: 1300 364 938

Fax: 1300 364 952

Electronic: eReferral system

Mail: Metro North Central Patient Intake
Aspley Community Centre
776  Zillmere Road
ASPLEY QLD 4034

Health pathways

Access to Health Pathways is free for clinicians in Metro North Brisbane.

For login details email:
healthpathways@brisbanenorthphn.org.au

Login to Brisbane North Health Pathways:
brisbanenorth.healthpathwayscommunity.org

Resources

Clinical resources

Patient resources

Australian Genetic Heart Disease Registry Information sheets

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