A genetic killer in the family

When Karen Falconer's brother collapsed, it was thought he'd had a heart attack. The cause was more sinister: a genetic condition that causes cardiac failure in the young. Suddenly, early deaths in previous generations began to make sense

Three weeks after his 50th birthday, my brother Blair came in from walking his labrador, sat down at the kitchen table and collapsed.

"If my girlfriend, Debbie, hadn't been with me, there's no question, I'd be dead," he says. "One minute I was fine, a bit breathless. The next, I felt myself keeling over, losing consciousness and there was nothing I could do. Debbie went into autopilot, put me in the recovery position and pumped so hard my chest was covered in bruises. She got my heart going again. She'd learned to resuscitate because her brother has epilepsy."

The natural assumption from both family and doctors, reinforced by a now erratic ECG, was that Blair had suffered a heart attack. Exactly like our 47-year-old, tennis-playing dad – a walk, something to eat, then a massive coronary – except Blair survived and Dad died.

So it was a mystery when, admitted to his local hospital, a blood test revealed it definitely wasn't a heart attack.

"I was in limbo. They couldn't let me go home or even off the ward for fear my heart would fail again and this time be fatal. All they could do was keep me on a heart monitor, feed me and give me beta blockers while we waited for an MRI at the specialist heart unit 15 miles away. Stuck on a general ward, watching my hospital, Tameside, slated on television as 'failing', I was stressed to hell. Thankfully, I was under a great young doctor, Mark Aitken, who eventually clicked what was wrong and helped with my transfer to the University Hospital of South Manchester."

It turned out Blair has a silent killer – hypertrophic cardiomyopathy (HCM) – the same condition that struck down the Cameroon footballer Marc-Vivien Foe on the pitch; and Rising Damp's Leonard Rossiter as he waited to go onstage. It's a genetic heart condition that causes thickening of the heart muscle and impedes effective pumping. Though it affects 1 in 500 people (more than much more visible diseases such as cystic fibrosis) many people don't know they've got it until it's too late.

"After my MRI, Dr Aitken drew me a picture of my heart. The muscle on both sides of the left ventricular chamber was so overgrown it was almost touching at points. I'm lucky my heart didn't fail sooner."

HCM breaks the pattern of most heart disease. It is the leading cause of heart-related sudden death in young people, excessive muscle tending to develop during puberty and early adulthood (sometimes also as a baby, as in the recent high-profile case of Lisa Yue in America, who lost two babies to it). Equally, it doesn't necessarily raise blood pressure, even at the critical stage like Blair's, because the heart can't pump strongly enough. And while the general population is told a good dose of sport protects the heart, anyone with the HCM gene is advised against strenuous exercise.

Once Blair was off the critical list, more shockwaves resonated through our family as the high probability that others had it too dawned. With a 50/50 chance of inheriting it, several deaths in the past began to make sense – my dad's; his swimmer mother's who was found dead on the beach in her costume with no water in her lungs; and her mother, who also died young, suddenly and inexplicably.

Unpleasant realities about the present surged: if HCM killed our ancestors (which we will never know for sure) and Blair has it, who else might? Siblings? Children? Cousins? Aunts, uncles? Overnight, every instance of a child fainting became potentially significant.

Blair's children, both in their early twenties, have a one in two chance of inheriting the condition. They're waiting for the results of his genetic tests to give them a clearer idea.

"I'm worried for them," Blair acknowledges. "I know they're feeling the strain. It's a big shock."

Dr Kay Metcalfe, Blair's consultant geneticist at St Mary's Hospital, Manchester, explains: "There's a 60 to 70 per cent chance of pinpointing the gene with the five genes we test. If we identify it, all first-degree relatives are offered tests, too."

She concedes that hospitals could look for additional genes, but genetic identification is costly and, once you move beyond the main genes, it produces ever-decreasing returns.

As anyone who's considered tests for other genetic conditions knows, identification brings with it myriad difficulties: the psychological shift, crossing that line from full fitness to potential incapacity; the practical – insurance, mortgages, even jobs; and the chance that you have the gene (and therefore the worry) but might never develop the disease. Or that you don't have active disease, but your children might. One reassurance is, HCM doesn't jump a generation: if you don't have the gene, your children won't.

Debate, controversy even, surrounds the gene testing: how many genes to test and whose, as well as screening more generally. The Italians check all athletes for HCM – and (though it is contested in other countries) claim it has significantly reduced deaths. Organisations such as Cardiac Risk in the Young (CRY) advise first-degree relatives to have yearly checks – ECGs and echocardiograms – until the age of 21; then every five years. A recent report in the specialist journal Cardiogenetics concludes that genetic testing is the most cost-effective option for immediate family.

Family members have reacted differently. Most have decided to wait the three months until the results of Blair's gene tests are back. Some would rather not know. One of my sons, a swimmer and water polo player, took himself straight off for an echocardiogram. Coincidentally, I was scheduled to have one. Neither revealed muscle thickening, for now.

After a six-week stay, Blair left hospital, patched up; not cured. His defibrillator (ICD) monitors and kick-starts his heart, but only risky open-heart surgery can cure him. He is not allowed to drive and the DVLA revoked his licences. As a cab driver with an HGV licence, too, he's lost his income. He understands why, but thinks all professional drivers, like athletes in Italy, should be screened: "Imagine the carnage if I'd been driving a heavy lorry down the M62."

Breakthroughs in treatment may not be far away. Professor William McKenna of University College London and president of the Cardiomyopathy Association explains: "Animal studies at Harvard show HCM can be delayed by introducing normal genes to inhibit the deleterious effects of disease-causing mutations. Medicines are also being developed that target the problems caused by specific gene mutations."

This is not the first journey Blair and I have taken together into family genetics. Last time it was to save my life, when, instead of the early heart attack I'd half-expected since adolescence, I was diagnosed with chronic myeloid leukaemia. The fact that our tissue types matched was a cause of celebration and great relief. Blair gave me his bone marrow for a transplant and has continued to donate cells for top-up treatments ever since.

Somehow it seems unjust that today we're all hoping the rest of our genes differ.

"What doctors don't know yet," Blair says "is whether my heart has been like this since I was a teenager, or whether it's got worse over the years. They will only have a chance of telling if someone younger is identified and they watch them. Let's hope that doesn't happen."

News
Netherlands' goalkeeper Tim Krul fails to make a save from Costa Rica's midfielder Celso Borges during a penalty shoot-out in the quarter-final between Netherlands and Costa Rica during the 2014 FIFA World Cup
newsGoalkeepers suffer from 'gambler’s fallacy' during shoot-outs
Arts and Entertainment
Sydney and Melbourne are locked in a row over giant milk crates
artCultural relations between Sydney and Melbourne soured by row over milk crate art instillation
News
A scene from the video shows students mock rioting
newsEnd-of-year leaver's YouTube film features playground gun massacre
News
Two giraffes pictured on Garsfontein Road, Centurion, South Africa.
i100
PROMOTED VIDEO
Life and Style
ebookA wonderful selection of salads, starters and mains featuring venison, grouse and other game
Environment
View from the Llanberis Track to the mountain lake Llyn
Du’r Arddu
environmentA large chunk of Mount Snowdon, in north Wales, is up for sale
Travel
travel
Voices
A family sit and enjoy a quiet train journey
voicesForcing us to overhear dull phone conversations should be regarded as an offensive act
News
Kenny Ireland, pictured in 2010.
peopleBenidorm, actor was just 68
News
people
News
i100This Instagram photo does not prove Russian army is in Ukraine
News
Morrissey pictured in 2013
people
News
i100
Life and Style
The director of Wall-E Andrew Stanton with Angus MacLane's Lego model
gadgetsDesign made in Pixar animator’s spare time could get retail release
News
peopleGuitarist, who played with Aerosmith, Lou Reed and Alice Cooper among others, was 71
Environment
Tyred out: should fair weather cyclists have a separate slow lane?
environmentFormer Labour minister demands 'pootling lanes' for women cyclists
News
people
Independent
Travel Shop
the manor
Up to 70% off luxury travel
on city breaks Find out more
santorini
Up to 70% off luxury travel
on chic beach resorts Find out more
sardina foodie
Up to 70% off luxury travel
on country retreats Find out more
Latest stories from i100
Have you tried new the Independent Digital Edition apps?

ES Rentals

    Independent Dating
    and  

    By clicking 'Search' you
    are agreeing to our
    Terms of Use.

    iJobs Job Widget
    iJobs General

    Teacher

    £90 - £120 per day: Randstad Education Chelmsford: Supply teaching - A great w...

    Training Programme Manager (Learning and Development)-London

    £28000 - £32000 per annum + benefits: Ashdown Group: Training Programme Manage...

    VB.Net Developer - £40k - Surrey - WANTED ASAP

    £35000 - £40000 per annum + competitive: Progressive Recruitment: .Mid Level V...

    Digitakl Business Analyst, Slough

    £40000 - £45000 per annum + Competitive Benefits: Progressive Recruitment: Dig...

    Day In a Page

    Dress the Gaza situation up all you like, but the truth hurts

    Robert Fisk on Gaza conflict

    Dress the situation up all you like, but the truth hurts
    Save the tiger: Tiger, tiger burning less brightly as numbers plummet

    Tiger, tiger burning less brightly

    When William Blake wrote his famous poem there were probably more than 100,000 tigers in the wild. These days they probably number around 3,200
    5 News's Andy Bell retraces his grandfather's steps on the First World War battlefields

    In grandfather's footsteps

    5 News's political editor Andy Bell only knows his grandfather from the compelling diary he kept during WWI. But when he returned to the killing fields where Edwin Vaughan suffered so much, his ancestor came to life
    Lifestyle guru Martha Stewart reveals she has flying robot ... to take photos of her farm

    Martha Stewart has flying robot

    The lifestyle guru used the drone to get a bird's eye view her 153-acre farm in Bedford, New York
    Former Labour minister Meg Hillier has demanded 'pootling lanes' for women cyclists

    Do women cyclists need 'pootling lanes'?

    Simon Usborne (who's more of a hurtler) explains why winning the space race is key to happy riding
    A tale of two presidents: George W Bush downs his paintbrush to pen father’s life story

    A tale of two presidents

    George W Bush downs his paintbrush to pen father’s life story
    Restaurateur Mitch Tonks has given the Great Western Pullman dining car a makeover

    The dining car makes a comeback

    Restaurateur Mitch Tonks has given the Great Western Pullman dining car a makeover
    Gallery rage: How are institutions tackling the discomfort of overcrowding this summer?

    Gallery rage

    How are institutions tackling the discomfort of overcrowding this summer?
    Louis van Gaal has £500,000 video surveillance system installed to monitor Manchester United players

    Eye on the prize

    Louis van Gaal has £500,000 video surveillance system installed to monitor Manchester United players
    Women's rugby: Tamara Taylor adds fuel to the ire in quest to land World Cup

    Women's rugby

    Tamara Taylor adds fuel to the ire in quest to land World Cup
    Save the tiger: The day America’s love of backyard tigers led to a horrific bloodbath

    The day America’s love of backyard tigers led to a horrific bloodbath

    With only six per cent of the US population of these amazing big cats held in zoos, the Zanesville incident in 2011 was inevitable
    Samuel Beckett's biographer reveals secrets of the writer's time as a French Resistance spy

    How Samuel Beckett became a French Resistance spy

    As this year's Samuel Beckett festival opens in Enniskillen, James Knowlson, recalls how the Irish writer risked his life for liberty and narrowly escaped capture by the Gestapo
    We will remember them: relatives still honour those who fought in the Great War

    We will remember them

    Relatives still honour those who fought in the Great War
    Star Wars Episode VII is being shot on film - and now Kodak is launching a last-ditch bid to keep celluloid alive

    Kodak's last-ditch bid to keep celluloid alive

    Director J J Abrams and a few digital refuseniks shoot movies on film. Simon Usborne wonders what the fuss is about
    Once stilted and melodramatic, Hollywood is giving acting in video games a makeover

    Acting in video games gets a makeover

    David Crookes meets two of the genre's most popular voices