I’m sorry to hear that you have a child with Tetralogy of Fallot. In reply to your query I have put together a summary of some of the information that I have located and some useful contact details.
Tetralogy of Fallot is comprised of four elements, all of which interfere with blood flow to the lungs: a hole or ventricular septal defect that lets blood pass from the right to left ventricle without going through the lungs, a narrow stenosis that blocks the passage of blood from the right ventricle to the lungs, the right ventricle is more muscular than usual and the aorta is mal-positioned over the ventricular septal defect.
Approximately 15% of patients with Tetralogy of Fallot have a chromosome abnormality, a deletion of a small section of chromosome 22 (22q11). This can be detected by a technique called fluorescent in situ hybridisation or FISH in which the chromosomes are ‘stained’ to identify the deletion. In most cases the chromosome deletion is not inherited, though it can be passed on to future generations.
The heart defects in patients with tetralogy of fallot are usually repaired surgically.
The Association of Genetic Support of Australasia has the contact details of many families with genetic conditions, their contact details are:
66 Albion Street
Tel: 02 9211 1462
Email: [email protected]
Dr Jane Fleming