Friday , June 25 2021

A Danish doctor is currently discovering an unknown hereditary heart disease



It all started when a heart-wrenching man was admitted to Rigshospitalet in Copenhagen in 2006.

– I discovered that the patterns on his cards looked very strange. They were completely different from anything we saw before, so we wondered what it could be, "says Professor and Head Henning Bundgaard.

He is the head of Rigshospitalet's hereditary heart disease unit.

– We investigated his family and found that several relatives had the same pattern. Because of that, he doubted that he should be something inherited, he continues.

Now, a few years after the episode, Bundgaard can discover that it is a heart disease that has not been described earlier.

Bundgaard described the disease together with colleagues from Rigshospitalet, Herlev, DTU and the University of Copenhagen, as well as researchers from Oxford and Amsterdam.

The result was published in a "letter to the editor" in the journal New England Journal of Medicine.

The name of the disease

  • The researchers baptized a new heart disease "family ST depressive syndrome". "Meet" because the disease is hereditary.
  • "ST depression syndrome" has nothing to do with mental disorders.
  • The so-called "ST-piece" in cardiogram of the heart is low – the phenomenon of the doctor calls depression.

Source: Henning Bundgaard

What do we know about heart disease?

Researchers continue to have limited knowledge of the new disease, as only five families have so far found them. Here's what they know:

  • Changes in the heart can only be observed in the heart, which is maintained by the appropriate equipment – no external symptoms.
  • Patients with a disease may develop heart rhythm, heart rhythm disorders, reduced heart rate, and heart failure. The latter can have a fatal outcome. Therefore, Henning Bundgaard believes that there may be a fairly dangerous disease.
  • The disease is hereditary. The researchers learned about the research of family members in patients with diseases. It seems that in all families of patients there are more people who have a disease.
  • Researchers still do not know what the cause of the disease is. To find the answers to that, they must first find the gene in which the disease is.
  • Researchers can first find new methods for treating diseases when they discover what it is. Until then, the heart in Rigshospitalet will continue to treat patients with diseases, as well as with similar disorders that interfere with the heart rhythm.
Henning Bundgaard and his colleagues developed a list of heart changes that might be necessary for other doctors to diagnose. (Photo: Wave / Shutterstock / NTB scanpik)
Henning Bundgaard and his colleagues developed a list of heart changes that might be necessary for other doctors to diagnose. (Photo: Wave / Shutterstock / NTB scanpik)
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Henning Bundgaard and his colleagues developed a list of heart changes that might be necessary for other doctors to diagnose. (Photo: Wave / Shutterstock / NTB scanpik)

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It can help explain unexpected heart failure

Henrik Kjærulf Jensen, senior and clinical associate professor at the Department of Cardiovascular Diseases at the University Hospital in Aarhus, believes that the results of the research are important.

It consists of many patients and relatives who are affected by sudden, unexpected heart failure.

At the same time, Jensen emphasizes that there is no need to worry about whether others in the family are affected by heart pressure:

– Doctors who doubt, go back and check the diagnosis. If there is any doubt, they will contact patients and families, "he says.

– If you have any symptoms of cardiac problems, your doctor may ask you for a specialist. But even if you have a heart rhythm disorder, this does not mean that you have this disease.

The patient was seriously injured

A patient with a special heart cardiogram that caused the suspicion of Henning Bundgaard was 75-year-old Knud Sandager. There were several doctors who tried to find out what was wrong with his heart.

– It all started 40 years ago when the doctor took ECG (electrocardiography, which measures heart rate, red.) For the first time. The doctor moved the measurement a little. Then he took a couple, but he still could not see what was wrong, Sandager said.

Known diseases

  • The researchers found five different families from Denmark, England and the Netherlands, where several family members suffer from heart disease.
  • Although researchers have now found only five families, this does not mean that the disease is rare – more patients can show up.

Source: Henning Bundgaard

"A few days later, the doctor called me and said that there was something wrong with the ECG, so I will return. When he made new measurements, he found that there was no machine with something bad, but a heart.

Doctors advised

A few years later Sandager got something that his then doctor thought was a smaller blood clot. As a result, he was sent 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 I have been diagnosed with "structural defects in the heart," says Sandager.

Over the next ten years, Sandager was hospitalized 13 times for the heart. During this period he also found "atrial fibrillation".

Only after Sanger had a heart failure in 2006, he was informed by Dr. Henning Bundgaard at Rigshospitalet, who in several years could have discovered that there was a new disease.

When Knud Sandager examined Henning Bundgaard, he was diagnosed
When Knud Sandager examined Henning Bundgaard, he was diagnosed with "abnormal ECG". (Photo: Satirenko / Shutterstock / NTB scanpik)
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When Knud Sandager examined Henning Bundgaard, he was diagnosed with "abnormal ECG". (Photo: Satirenko / Shutterstock / NTB scanpik)

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This is how electrocardiography works

  • The ECG measures the electrical activity of the heart.
  • The heart is rhythmically drawn to pump around the blood of the body, and the contraction is controlled by the electrical impulses captured in the ECG.
  • During ECG measurement, you get small electrodes on your arms, legs and chest.
  • Based on the signals detected through the electrodes, there are curves of electrical activity cards printed on the computer screen. Bloodlines show the rhythm of the heart.

Source: Henning Bundgaard

Heart rate measurement detects disease

For the first time Bundgaard saw Sandger's ECG, he was standing on a hill, just like other doctors.

The superiors found great surprise that several members of the Sandager family had similar ECG changes.

Bundgaard never saw anything similar, so he brought the ECG to meetings and congresses to ask his colleagues what he thinks.

– Some time later, first he called a colleague from Holland, and then one from Oxford. They reported that they also found families with several relatives who had similar ECGs, so we began to see the pattern, "explains Bundgaard.

When he saw ECGs of foreign patients, he was not sure that the patients had failed the same:

– ECGs do not look like changes that we have seen before in patients with other cardiac arrhythmias. We also know another heart disease that gives the same symptoms, so the disease does not stand out on that front. It is new that the ECG of the patient looks completely different from the ECG for other patients, "said Bundgaard.

On the left you can see normal ECG, and on the right you can see what looks like a patient with heart disease. After the high spikes you will see the brands II, III, AVF, V4, V5 and V6. Find it
On the left you can see normal ECG, and on the right you can see what looks like a patient with heart disease. After the high spikes you will see the brands II, III, AVF, V4, V5 and V6. Look for this "dive" curve and it remains low before it reaches the normal level. (Photo: Bundgaard et al.)
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On the left you can see normal ECG, and on the right you can see what looks like a patient with heart disease. After the high spikes you will see the brands II, III, AVF, V4, V5 and V6. Look for this "dive" curve and it remains low before it reaches the normal level. (Photo: Bundgaard et al.)

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Poting of a sick gene

Look for a supercomputer gene

  • The researchers tried to find a gene where a new heart disease sits with one of the world's largest computer supercomputers, Computerome.
  • The researchers analyzed the data of families with diseases and compared them with data from healthy people.
  • The researchers looked for a disease in about 300 genes that someone already knows that there is something with heart disease, but they have not found anything. This indicates that this is a new disease, says Henning Bundgaard.

Source: Henning Bundgaard

As the new heart disease is hereditary, the next step for the researchers will be to determine which genome is the disease.

"If we can figure it out, we will probably also get answers to what kind of disease mechanism is involved – completely on the cellular level. It's important to treat the condition," explains Bundgaard.

However, researchers were unable to find genes of the disease:

"We did not find it, even if we were looking for light and a lamp," says Bundgaard.

However, he believes that the hunting of the gene will now go faster with the discovery in the scientific journal:

– Heart patients around the world are thinking about their previous patients with the same curves in the ECG. So we will investigate many patients.

How to cure illness?

While doctors do not find the gene whose heart disease is involved, the hospital department continues to treat patients in the way they are striving, says Bundgaard.

He emphasizes that the current treatment works, but that does not prevent the occurrence of the disease.

"Not at least when we find younger patients with a disease, we would like to avoid a situation in which they need life-long treatment of the heart," he says.

"That's why we have to find a sick gene. It allows us to prevent the development of the disease.

© Videnskab.dk. Translated by Lars Nigaard for research.no.


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