Arrhythmogenic
Cardiomyopathy (AC).
The Condition.
Arrhythmogenic Cardiomyopathy (AC) is the condition which took Jay’s life. Formerly known as Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), it is a genetic condition and can be inherited and passed on through families.
It is a rare disease of the heart muscle, caused by a change or mutation in genes, which can affect the right ventricle, left ventricle, or both ventricles. If a parent has AC, their children will have a 50:50 chance of inheriting the mutation; it is not necessarily the case that they will develop the condition.
When a patient has AC, fatty fibrous tissue replaces normal heart muscle. AC has four progressive phases, but - as with other genetic conditions - people are not all affected by the condition at the same speed. Some people may not develop all (or any) of the phases, meaning they can live with AC without ever developing any serious problems..
Common Symptoms.
If you have AC, you may have one or more of the
following symptoms:
Breathlessness.
Light-headedness
Fainting
Palpitations
Breathlessness
Abnormal heart rhythms
Swollen ankles or legs
Swelling in the abdomen
Risk of sudden death when exercising
Unfortunately, in some cases the first sign or symptom of a heart condition can be a sudden cardiac arrest. If somebody becomes unconscious and is not breathing, call 999, start CPR immediately and ask someone to go and get a defibrillator.
Common Testing.
How is it treated?
AC produces many of the symptoms and changes of several other cardiac conditions, making it notoriously difficult to diagnose. The changes in the heart muscle can be very minor, or may build up in a difficult-to-recognise pattern, particularly when in the right ventricle. However, diagnosis of the condition is crucial; undiagnosed AC can often lead to sudden cardiac death whilst exercising.
Your GP may suspect you have AC, due to your symptoms, and refer you to a cardiologist, or it may be that you are referred to a cardiologist as the result of somebody else in your family being diagnosed with the condition. The cardiologist is likely to give you an ECG, echocardiogram, an exercise test and a magnetic resonance imaging (MRI) scan.
HCM is not curable, but there are a number of treatments available to control symptoms and prevent complications. For example, alcohol septal ablation (a procedure that uses injections and is non-surgical) can help patients with severe symptoms caused by the obstructive form of HCM. Other treatments include a pacemaker being implanted under the skin to control the heart rhythm, or an implantable cardioverter defibrillator (ICD) can be used if the patient is considered to be at risk of sudden cardiac death due to an abnormal heart rhythm
Cardiac Risk in the Young (CRY)
Jay’s AIM supports the work of Cardiac Risk in the Young (CRY). CRY holds cardiac screening sessions in locations all over the UK; these sessions are unique for offering an electrocardiogram (ECG) and an echocardiogram, when needed, on the same day. The sessions are free to attend for anyone between the ages of 14 and 35. Crucially, any abnormalities highlighted at a screening session must be followed up with thorough assessment and screening at an Inherited Cardiac Condition (ICC) Clinic.