Genetic heart disease

Other important information for referring practitioners

When to refer

  • If a relative of a patient with inheritable cardiac disease, for diagnosis, clinical screening, genetic counselling and advice.
  • If suspect genetic/congenital heart disease, for diagnosis, genetic counselling, management and follow up.

Clinical screening

It is recommended that all first degree relatives of patients with known genetic cardiac disease undergo clinical screening by a Cardiologist with experience in this field of Cardiology.

Genetic testing

May be considered in individuals with specific cardiac genetic disorders (diagnostic testing) or their family members (predictive testing).

Genetic cardiac conditions

Over 40 cardiac diseases with a genetic basis exist. Brisbane has an enthusiastic cardiac genetic team and encourages families with genetic cardiac diseases to register on a database. This website contains useful information about the most common disorders listed below.


The Heart Foundation’s Heart Failure Guidelines and the European Society of Cardiology guidelines provide some additional information regarding patient management.

Referral requirements

A referral may be rejected without the following information.

  • Medical history of condition
  • Family history (this is very important)
  • Relevant previous medical history and co-morbidities
  • Management to date
  • Medications and allergies/intolerances
  • Investigations
    • FBC, E/LFTs
    • Resting ECG
    • Echocardiogram

Additional referral information (useful for processing the referral)

  • Any investigations relevant to any co-morbidities (HBA1c if diabetic, lung function testing if COPD etc)
  • 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

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