At endanger: Nancy Williams and her sister Cathie had no idea that their curly curls could be a symptomThis heart condition was responsible for the deaths of her sister Dora, her uncle, a cousin and also pretend ti nine other members of her family.
Mum-of-three Nancy, from Exile oneself St Edmunds, Suffolk, carries a deadly gene mutation that causes arrhythmogenic proper ventricular cardiomyopathy (ARVC) which can cause heart failure and unannounced cardiac arrest. The same mutation also causes curly plaits and dry patches of skin.
“None of my family members were diagnosed with ARVC until my term 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 innocent sister, died in 1994 at the age of 26 after collapsing at their papa’s birthday party. “She was on life support for three days but didn’t sanction it,” says Nancy. “Her post-mortem examination suggested she’d died of viral myocarditis. It wasn’t until I was distinguished with ARVC that it became clear Dora had it too.”
You won’t Hold what Nadia Sawalha looks like without her curly braids
Common infections could increase YOUR risk of heart malign or stroke
It is thought that up to 64,000 people in the UK are affected by ARVC and scads of them have no idea they have the condition.
It is caused by a transmutation in one or more genes which can lead to cells in the heart muscle being damaged. And it is a uncommonly dangerous condition because it can cause very fast, life-threatening empathy rhythms called arrhythmias.
This happens when the heart’s run-of-the-mill electrical impulses are disrupted as they travel through damaged courtyards of the heart. Ex-England cricketer James Taylor is a high-profile sufferer and was strained to retire aged 26 in 2016 because of the condition.
Professor David Kelsell of Queen mother Mary University of London, who is an expert in ARVC, says: “We have learned that one gene mutation which causes ARVC can also be in to thick skin on the palms and soles and also curly, woolly-like trifle. In this heart condition, without warning, a sudden abnormal nautical tack of the heart occurs that can cause cardiac arrest and sudden termination.”
Nancy Williams and her sisters, three of whom have inherited the gene that occasions ARVCNancy only discovered she had the condition when she sought medical expropriate after suffering from spells of near-fainting and a racing heart grade. “At first I was actually diagnosed with dilated cardiomyopathy (DCM) but it didn’t unqualifiedly fit,” she explains.
Knowing her sister had died of heart-related problems she contacted London’s Essence Hospital, which at the time was at the forefront of all new heart research. The whole pedigree underwent genetic testing and six months later their faulty gene transmutation was revealed.
Nancy’s son Robert, now 33, is among those affected although her other ladies, Stacey, 31, and Laurie, 27, are clear.
Nancy suffers from pity failure as a result of her condition and has had three implantable cardioverter defibrillators (ICDs) custom-made.
These devices, inserted into the chest shock the heart service into rhythm if it suddenly stops. Nancy says: “I do struggle with weariness, going up stairs and walking for more than 30 minutes but I notwithstanding have an active life, I play bridge and paint. Robert is altogether well, although he avoids strenuous sports and has started taking beta blockers.”
Concurring to the British Heart Foundation more than 620,000 people in the UK are effect a faulty gene which puts them at an unusually high danger of sudden cardiac arrest with no obvious cause or explanation.
The BHF is stocking a team of researchers headed by Professor Kelsell looking at why ARVC exposes, with the aim of finding possible cures.
“This type of inherited marrow condition is extremely dangerous since the heart could stop route at any time, so it is vital to find out more about its causes to develop new remedies,” he explains.
Ex-England cricketer James Taylor is a high limn gross sufferer of ARVC“Once we know someone is at risk they can be bespoke with an ICD but this is an insurance policy, not a cure.
“There still is an tenacious need to understand what causes this heart condition so we can emerge new methods of prevention and treatment.”
Nancy, whose husband Stephen has been monomachy a rare sarcoma for the past 15 years, says: “My husband and I go for to say we live with our conditions. There have been big steps in improving subsistence expectancy in both conditions and we hope that if we hang in there the sky’s the limit. We till the end of time say how lucky we are.”
Find out how the BHF is tackling inherited heart conditions with exploration by visiting bhf.org.uk