19 March 2018
WHEN Nancy Williams and her younger sisters Cathie and Dora were growing up they assumed that their curly hair was simply a genetic trait inherited from their mum Ruth.
But it was only when Nancy, now 57, reached her early 40s that she learnt her frizzy locks were an outward sign of a hidden heart condition that was responsible for the deaths of her sister Dora, her uncle, a cousin and which affects nine other members of her family.
Mum-of-three Nancy, from Bury St Edmunds, Suffolk, carries a deadly gene mutation that causes arrhythmogenic right ventricular cardiomyopathy (ARVC) which can cause heart failure and sudden cardiac arrest. The same mutation also causes curly hair and dry patches of skin.
“None of my family members were diagnosed with ARVC until my condition was discovered in 2003,” says Nancy. “My mum Ruth passed the gene down to the three youngest of her six daughters, me and my sisters Cathie and Dora.”
Dora, Nancy’s youngest sister, died in 1994 at the age of 26 after collapsing at their father’s birthday party. “She was on life support for three days but didn’t make it,” says Nancy. “Her post-mortem examination suggested she’d died of viral myocarditis. It wasn’t until I was diagnosed with ARVC that it became clear Dora had it too.”
It is thought that up to 64,000 people in the UK are affected by ARVC and many of them have no idea they have the condition.
It is caused by a mutation in one or more genes which can lead to cells in the heart muscle being damaged. And it is a particularly dangerous condition because it can cause very fast, life-threatening heart rhythms called arrhythmias. This happens when the heart’s normal electrical impulses are disrupted as they travel through damaged areas of the heart. Ex-England cricketer James Taylor is a high-profile sufferer and was forced to retire aged 26 in 2016 because of the condition.
Professor David Kelsell of Queen Mary University of London, who is an expert in ARVC, says: “We have discovered
that one gene mutation which causes ARVC can also be linked to thick skin on the palms and soles and also curly, woolly-like hair. In this heart condition, without warning, a sudden abnormal beating of the heart occurs that can cause cardiac arrest and sudden death.”
NANCY only discovered she had the condition when she sought medical help after suffering from spells of near-fainting and a racing heart rate.
“At first I was actually diagnosed with dilated cardiomyopathy (DCM) but it didn’t really fit,” she explains.
Knowing her sister had died of heart-related problems she contacted London’s Heart Hospital, which at the time was at the forefront of all new heart research. The whole family underwent genetic testing and six months later their faulty gene mutation was revealed.
Nancy’s son Robert, now 33, is among those affected although her other children, Stacey, 31, and Laurie, 27, are clear.
Nancy suffers from heart failure as a result of her condition and has had three implantable cardioverter defibrillators (ICDs) fitted. These devices, inserted into the chest shock the heart back into rhythm if it suddenly stops.
Nancy says: “I do struggle with fatigue, going up stairs and walking for more than 30 minutes but I still have an active life, I play bridge and paint. Robert is quite well, although he avoids strenuous sports and has started taking beta blockers.”
According to the British Heart Foundation more than 620,000 people in the UK are carrying a faulty gene which puts them at an unusually high risk of developing coronary heart disease or dying suddenly, although the majority remain undiagnosed. New BHF research also shows one in five people with an inherited heart condition is only diagnosed after a sudden death in the family.
Inherited heart conditions can affect people of any age and often the first sign of a problem is when someone has a heart attack at a young age or a sudden cardiac arrest with no obvious cause or explanation.
The BHF is funding a team of researchers headed by Professor Kelsell looking at why ARVC develops, with the aim of finding possible cures.
“This type of inherited heart condition is extremely dangerous since the heart could stop beating at any time, so it is vital to find out more about its causes to develop new therapies,” he explains.
“Once we know someone is at risk they can be fitted with an ICD but this is an insurance policy, not a cure.
“There still is an urgent need to understand what causes this heart condition so we can develop new methods of prevention and treatment.”
Nancy, whose husband Stephen has been fighting a rare sarcoma for the past 15 years, says: “My husband and I like to say we live with our conditions. There have been big steps in improving life expectancy in both conditions and we hope that if we hang in there the sky’s the limit. We always say how lucky we are.”
Find out how the BHF is tackling inherited heart conditions with research by visiting bhf.org.uk