New Zealand - Isolating heart problems in young

Citation

(2008), "New Zealand - Isolating heart problems in young", International Journal of Health Care Quality Assurance, Vol. 21 No. 7. https://doi.org/10.1108/ijhcqa.2008.06221gab.005

New Zealand - Isolating heart problems in young

Article Type: News and views From: International Journal of Health Care Quality Assurance, Volume 21, Issue 7

Keywords: Early diagnosis, Disease identification, Familial disease management, Quality improvements

After Danielle Evans-Gee died in her sleep aged 21 months, her grieving family waited more than three years before doctors finally diagnosed the genetic mutation that killed her.

In that time they suffered the anxiety of not knowing what had taken their little one, guilt from the belief they might have carelessly exposed her to some fatal toxin, and difficulty in having to explain repeatedly that the cause of death was unknown.

“Quite often I would wonder if it was some environmental thing or some mould growing under the house that did it. It was awful”, said Danielle’s mother, massage therapist Rosie Witcutt, of Torbay on Auckland’s North Shore.

But the sense of guilt and anxiety quickly lifted after Danielle, who had died in 2001, was found to have had a genetic mutation, called long QT syndrome, that causes an abnormal heart rhythm.

Now Mrs Witcutt – with heart specialists, pathologists and coroners – is welcoming new guidelines on performing autopsies in cases of sudden, unexpected death in the young. They hope the new measures will increase the chances of early diagnosis of inherited cardiac disorders.

An autopsy did not find the cause of Danielle’s death; long QT syndrome can elude a standard autopsy. It was a chance conversation with someone whose relative had died of the condition that led the family to Auckland City Hospital cardiologist Dr Jon Skinner and eventual diagnosis by genetic testing of a stored blood sample.

“I didn’t know how much I needed to know why she died until I did. It’s a huge relief,” said Mrs Witcutt. She was tested but does not have the mutation.

Each year about 100 people under 40 die suddenly and unexpectedly. Fifteen percent of them up to age 35 and at least 10 percent of sudden infant death syndrome cases are thought to be attributable to long QT syndrome.

Developed by a group headed by Dr Skinner, the new Australasian guidelines – which cover Danielle’s condition and other inherited cardiac diseases – say thorough investigations of sudden deaths in the young can identify these diseases in more than 40 percent of cases. For each case diagnosed, on average nine or 10 relatives at risk of the same condition are identified, allowing them to avoid risky situations and be treated with drugs and in some cases a pacemaker.

The guidelines include increased contact with cardiologists, taking samples for genetic tests, looking into possible familial disease and doing an autopsy.

“Medical practitioners and coroners, who may be under great pressure to avoid post-mortem,” the guidelines say, “must now respond to evidence that failure to identify these inherited disorders may result in missed opportunities to avert future premature deaths among other family members.”

Autopsy advice:

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  Medical specialists have written guidelines for autopsies after sudden, unexpected deaths of people under 40.

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  They aim to ensure comprehensive autopsies are performed, looking for signs of inherited cardiac diseases.

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  It is expected this will lead to these diseases being found more frequently, allowing affected family members to be identified and treated.

For more information: www.nzherald.co.nz