Inherited Cardiac Conditions.
Inherited cardiac conditions are passed on through genes in family members.
Jay died suddenly and unexpectedly from a cardiac arrest while he was exercising; the arrest was caused by an undiagnosed inherited cardiac condition, Arrhythmogenic Cardiomyopathy (AC). This inherited cardiac condition is not well-known, and nor are its symptoms. There are other inherited cardiac conditions, and they affect people of all ages, ethnicities and fitness levels. If left untreated these conditions can be life threatening, but if diagnosed correctly they can often be managed and monitored by the medical profession.
In Association with…
This section has been written with reference to information supplied by the British Heart Foundation, and with the generous help of Dr Phil Keeling, consultant cardiologist at Torbay and South Devon NHS Foundation Trust. Dr Phil Keeling, of Torbay and South Devon NHS Foundation Trust, is a leading cardiologist with a wealth of research experience in inherited cardiac conditions. Dr Keeling began his career at St Georges Hospital, London, where he worked with Professor Bill McKenna for six years. Whilst at the hospital, he completed his MD on pathogenesis of Dilated Cardiomyopathy (DCM). He has been the lead specialist of inherited cardiac conditions at Torbay and South Devon hospital since his appointment in 1996.
The Conditions
Arrhythmogenic Cardiomyopathy
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.
Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy (HCM) is an inherited disease of the heart muscle which leads to the muscle wall becoming thickened. HCM is the most common cause of sudden cardiac death, and takes two different forms; obstructive and non-obstructive. If a parent has HCM their children will have a 50:50 chance of inheriting the condition. Gene testing for this condition is now quite advanced, with the gene responsible for the condition being identifiable in two-thirds of cases. About 1 in 500 people in the UK have this condition; however, many of them will experience few - if any - symptoms.
Dilated Cardiomyopathy
Dilated Cardiomyopathy (DCM) is a disease that stretches and thins the heart muscle, potentially resulting in the heart becoming too weak to pump blood around the body effectively. About one-third of DCM cases are inherited. If a parent has DCM their child will have a 50:50 chance of inheriting the condition. The genetics associated with DCM are not as established as with some other conditions, so family screening and thorough assessment at an Inherited Cardiac Condition (ICC) Clinic is crucial..
Long QT Syndrome
Long QT Syndrome (LQTS) is an inherited condition that disrupts electrical activity in the heart, and can cause abnormal heart rhythms, known as arrhythmias. The name ‘Long QT’ refers to the length of the QT interval (part of the heartbeat cycle) when the heart’s electrical activity is measured by an electrocardiogram. LQTS is a rare disorder and can be difficult to diagnose, as the QT interval-length changes are often subtle and somewhat variable – in addition, some medications can lengthen a patient’s QT interval, without any inherited condition being present.
Brugada Syndrome
Brugada Syndrome is a rare inherited heart condition that affects the way electrical signals are passed through the heart. It is caused by a disruption of the flow of sodium or potassium ions into the heart cells. The condition can cause abnormal heart rhythms (arrhythmias), making the heart beat dangerously fast; in some cases it can cause sudden cardiac death. The Syndrome can be difficult to diagnose and is sometimes overlooked. It is known to be more common in men of South-East Asian heritage. If a parent has Brugada Syndrome, their child will have a 50:50 chance of inheriting it.
When someone is diagnosed with an inherited cardiac condition, it is important that full and complete family screening takes place.
In the first instance, this will be for their first-degree relatives (their parents (father or mother), full siblings (brother or sister) and children). Other relatives will then be tested if necessary. The screening will be clinical to begin with, meaning it will take place using tests determined by the cardiologist in an ICC Clinic, before moving on to genetic testing if appropriate..
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.