Also known as: Hereditary haemorrhagic telangiectasia, aortic valve disease, polycystic kidney disease, tortuosity of retinal arteries, Adams-Oliver syndrome, cutis laxa, arterial tortuosity syndrome
Familial - Cardiac
For each cardiovascular disorder, an abnormality in any one of a number of genes can make a major contribution to that disorder, that is, one disorder can be caused by many different genes. On the other hand, an abnormality in one gene can potentially cause a number of different disorders, that is, one gene can cause many different disorders, including non-cardiovascular disorders.
The purpose of genetic testing in cardiac disorders
A ‘familial cardiovascular disorder’ is a disorder that runs in the family because of an inherited genetic error. If an inherited genetic error is the major underlying cause of a patient’s cardiac disorder, the abnormal gene may have been inherited by the patient’s relatives. Relatives who have inherited the abnormal gene may also be at risk of developing the disorder.
Although there is no current cure for genetic heart disease, the identification of the genetic cause for a patient’s heart disease can provide valuable information about:
- The types of cardiac problems that could arise
- The risk and severity of life-threatening events, such as a cardiac arrest
- The most appropriate way to monitor cardiac health and risks
- The most effective medication to reduce the risk or severity of cardiac complications
- The potential value of more expensive interventions, such as implantation of a defibrillator
- Clinical screening advice for other at-risk family members
- Options for family planning, including pre-implantation genetic diagnosis
Cardiac genetic testing through Sonic Genetics
As from July 1st 2022, the cardiac panels underlined below are Medicare rebated.
- Arrhythmogenic right ventricular cardiomyopathy (ARVC)
- Brugada syndrome
- Dilated cardiomyopathy
- Familial hypertriglyceridaemia
- Hypertrophic cardiomyopathy
- Left ventricular non-compaction
- Long QT syndrome
- Pulmonary hypertension
Your local Sonic Healthcare Australia pathology practice can facilitate such testing. Please contact them for details on how to order.