Everyone started when there was a man with a heart attack to the Rigshospitalet in Copenhagen in 2006.
– I discovered that the patterns on her cardiac charts looked very curious. They were totally different from anything else we had seen from before, so we think what it might be, "said Professor and Chief Henning Bundgaard.
He is head of Rigshospitalet unit for infectious heart disease.
– We investigated family and found that both relationships had the same pattern. We suspected it should be something hereditary, it's still.
Now, several years after the episode, Bundgaard can reveal that he is a heart disease that he has not described in front of.
Bundgaard has described the disease together with colleagues from Rigshospitalet, Herlev Hospital, DTU and Copenhagen University, as well as researchers from Oxford and Amsterdam.
The result is published in the "editor's letter" in the New England Journal of Medicine magazine.
- The researchers have baptized the "new heart disease" family depression syndrome. "Known" because the disease was technically.
- "ST depression syndrome" has nothing to do with mental disorders.
- The "ST Pie" is called a low cardiogram – a phenomenon of doctors calls depression.
Source: Henning Bundgaard
What do we know about heart disease?
Researchers still have a limited knowledge of the new illness because they have found it in five families. This is what they know:
- Correct changes can only see the changes in the heart – there are no external symptoms.
- Patients with the disease can develop heart rhythms, heart rhythm disturbance, reduced heart pump and cardiac restraint. The latter can have a fatal consequence. Henning Bundgaard therefore believes that a disease could be rather dangerous.
- The disease is hereditary. Researchers have found by researching family members in patients with the disease. There are more people with the disease among patients' families.
- The researchers are still not aware of the cause of the disease. To find answers to it, they must locate the gene that the disease has to locate in.
- The researchers can find new methods of treating the disease after they discover what's current. Until then, the heart section at Rigshospitalet will continue to treat patients with the disease as with similar disorders that interfere with heart rhythm.
It can help explain unexpected cardiac suspension
Henrik Kjærulf Jensen, senior clinical contact teacher in the Heart Disease Department at Aarhus University Hospital believes that the research results are important.
It meets many patients and relatives who are affected by sudden unexpected cardiac suspension.
At the same time, Jensen stresses that there is no need to worry if others in the family are affected by cardiac arrest:
– Doctors who suspect doubt, go back and check the diagnosis. If in doubt, they will contact patients and families, "he said.
– If you have symptoms of general problems, you may be referred to a specialist from your own doctor. But even if you have heart rhythm disturbance, it does not mean you have this disease.
The patient was severely affected
The patient with a particular cardiac card that caused Henning Bundgaard to suspect was Knud Sandager 75. There were a number of doctors who had tried to disclose what was in their heart place.
– Everything started 40 years ago when ECG's doctor (electrocardiography, which measures rhythm of the heart, red). For the first time. The doctor brushed slightly over the measurements. Then he took a couple, but he still did not see what was wrong, says Sandager.
Notable causes of disease
- The researchers have found five different families from Denmark, England and the Netherlands, where a number of family members are suffering from heart disease.
- Although researchers now find just five families, it does not mean that the disease is scarce – it could show more patients.
Source: Henning Bundgaard
"A few days later, he called the doctor and told me that something happened to have happened with the ECG, so we'll come back. When he had taken new measurements, he found it. The fact that the machine was not there was anything, but the heart.
A few years later, Sandager had something that his doctor then thought was a smaller blood clot. As a result, he referred to another doctor, who took ECG again.
"He did not understand the ECG and sent me to other doctors to get a second opinion." Here we received a diagnosis of "structural defects in the heart" said Sandager.
In the next ten years, Sandager was hospitalized 13 times because of the heart. During this period, he also found "atrial fibrillation".
Only after Sandager had a cardiac arrest in 2006, he met Doctor Henning Bundgaard at Rigshospitalet, who after a few years could find a new disease.
Here's how electrocardiography works
- ECG measures the activity of heart disease.
- The heart pulls rhythmically with each other to pump around body blood, and the restriction is controlled by electrical impulses held in ECG.
- During ECG measurement, you will get small electrodes on your arms, legs and chests.
- Based on the signals detected by electrodes, the curves of the electrical activity of the card have been printed on a computer screen. The curve shows heart rhythm.
Source: Henning Bundgaard
The rate of heart rate reveals the disease
For the first time that Bundgaard saw ECG Sandager, he stood on the hill of the bar, just like the other doctors.
The majority found a great surprise that many members of the Sandager family had similar ECG changes.
Bundgaard had never seen anything like that, so he brought the ECG at meetings and conferences to ask colleagues what they thought.
– From a short time later, he called a Dutch colleague and then one of Oxford's first. They said they had also found families with a number of relatives who had a similar ECG, so we started to see a pattern, "explained Bundgaard.
When ECG saw patients overseas, it was not certain that the patients had failed the same:
– ECGs do not look like the changes seen in previous cases in patients with other cardiac arrhythmia. We know about heart disease that gives the same symptoms, so the disease does not stand out at that front. The new is that patients ECG looks completely different than ECGs for other patients, "said Bundgaard.
Sequence of the sick gene
Search for the supercomputer gene
- The researchers have tried to find the gene where a new heart disease is sitting using one of the world's largest computerized computer data computers.
- The researchers analyzed the data from the families with the disease and compared to the data by healthy people.
- The researchers searched for the disease in the approximately 300 genes that one of them already knows has something to do with heart disease, but they did not get anything. This shows that it is a new disease, says Henning Bundgaard.
Source: Henning Bundgaard
Because the new heart disease is hereditary, the next step for researchers will be to determine which genome is the disease on.
"If we can calculate it, we're probably able to get answers to what type of associated disease mechanism is – completely down at the cellular level. It's important how to treat the condition , "explains Bundgaard.
However, researchers have not been able to find disease genes:
"We have not found it, even if we are looking for light and a lantern," said Bundgaard.
But he believes that a gene hunt will go faster now as the discovery is published in a scientific journal:
– Heart victims around the world will think back on their former patients with the same curves in the ECG. Therefore, we will have many patients investigating.
How do you treat the disease?
Until the doctors find the gene heart disease has, the hospital household department continues to treat patients as they tend, says Bundgaard.
It emphasizes that the current treatment works but does not prevent the disease from occurring.
"Not least when we find younger patients with the disease, we would like to make sure that we avoid a situation that requires heart treatment throughout the lifetime," he said.
"So we have to find the sick gene, which allows us to prevent the disease from developing.
© Videnskab.dk. Translated by Lars Nygaard for research.no.