Wednesday , October 27 2021

A Danish doctor is discovering a hereditary heart disease that is currently unknown.



[ad_1]

It all began when he was admitted to Rigshospitalet in 2006 with a heart attack in Copenhagen.

– The pattern on the heart chart looks very strange. They were quite different from what I had seen before. So we wondered what it could be. "Professor Henning Bundgaard said.

He is the head of hereditary heart disease at Rigshospitalet.

– We investigated his family and found that some of his relatives had the same pattern. It made us think we should have something genetic.

A few years after the episode, Bundard may reveal that it was a heart disease not previously described.

Bundgaard described the disease with colleagues at Rigshospitalet, Herlev Hospital, DTU and the University of Copenhagen, and with researchers from Oxford and Amsterdam.

The results were published in a letter to the editor of the New England Journal of Medicine.

Name of disease

  • The researchers baptized a new heart disease called "Familial ST Depression Syndrome." The disease is "hereditary" because it is hereditary.
  • "ST depression syndrome" has nothing to do with mental disorders.
  • The so-called "ST-piece" in the cardiac electrocardiogram is low. The doctor's symptoms are called depression.

Source: Henning Bundgard

What do we know about heart disease?

The research team has only five families, so knowledge of the new disease is limited. What they know is:

  • Changes in the heart can only be observed if the pacemaker is using the right equipment. There are no external symptoms.
  • Patients suffering from this disease may experience heart rhythm, heart rhythm disturbances, reduced heart rate, and heart attack. The latter can have catastrophic consequences. Therefore, Henning Bundgaard thinks there may be some dangerous diseases.
  • The disease is hereditary. Researchers came to know by studying the family members of patients with this disease. Every patient's family appears to have more people suffering from the disease.
  • The researchers still do not know what the cause of the disease is. To find the answer, you first need to find the gene with the disease.
  • Researchers can find new ways to treat the disease by first identifying the cause of the disease. Until then, the Department of Cardiology at Rigshospitalet will continue to treat patients suffering from similar diseases that interfere with cardiac rhythm.
Henning Bundgaard and his colleagues have developed a list of heart changes that other doctors can diagnose. (Photo: ravipat / Shutterstock / NTB scanpix)
Henning Bundgaard and his colleagues have developed a list of heart changes that other doctors can diagnose. (Photo: ravipat / Shutterstock / NTB scanpix)
<! –

Henning Bundgaard and his colleagues have developed a list of heart changes that other doctors can diagnose. (Photo: ravipat / Shutterstock / NTB scanpix)

->

It can help explain unexpected heart attacks.

Henrik Kjærulf Jensen, a senior cardiologist and clinical associate professor at the University of Aarhus, believes the findings are important.

He meets many patients and relatives who are affected by a sudden unexpected heart attack.

At the same time, Jensen stresses that there is no need to worry about other people in the family being affected by heart attack.

The suspected doctor will go back and check the diagnosis. If there is any doubt, we will contact the patient and his family, "he says.

– If you have symptoms of heart disease in general, your doctor may be able to help you. However, even with a heart rhythm disorder, it does not mean that you have had this disease.

The patient was severely affected.

Henning Bundgaard was a 75-year-old knud sandager with a suspicious unique cardiangiography. There were a few doctors who tried to find out what was wrong with his mind.

– When the doctor started the ECG (ECG, which measures the heart's rhythm, red), everything started 40 years ago. For the first time. The doctor has pushed the survey a little bit. Then he took one or two people, but still could not see the wrong one.

Known cases of disease

  • The researchers found five families in Denmark, the United Kingdom and the Netherlands, and several families suffer from heart disease.
  • Researchers have now found only five families, but that does not mean that the disease is rare. More patients may appear.

Source: Henning Bundgard

"A few days later, the doctor called and informed him that there was a problem with the ECG, so he would come back. When he made the new measurement, he noticed that there was a problem with the machine, not the heart.

I received advice from doctors.

A few years later, Sandager thought there was a smaller clot than what his doctor thought. As a result, he was entrusted to another doctor who had taken ECG again.

"He did not understand the ECG and he sent me to get a second opinion from other doctors." Here I am diagnosed as "structural defects of the heart," says Sandager.

Over the next 10 years, Sandager was hospitalized for 13 of his heart. During this period he also found "atrial fibrillation."

Only after Sandager experienced a heart attack in 2006, I met Henning Bundgaard at Rigshospitalet. A few years later, I found that there was a new disease.

When Knud Sandager was examined by Henning Bundgaard,
When Knud Sandager was examined by Henning Bundgaard, he was diagnosed with "abnormal ECG". (Photo: Satyrenko / Shutterstock / NTB scanpix)
<! –

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

->

This is how ECG works.

  • Electrocardiogram measures the electrical activity of the heart.
  • The heart rhythmically pumps the blood of the body, and the contraction is controlled by the electric shock captured by the ECG.
  • During the ECG measurement, small electrodes are created on the arms, legs and chest.
  • There is an electrical activity curve of the card printed on the computer screen based on the signal detected through the electrodes. The curve shows the rhythm of the heart.

Source: Henning Bundgard

A measurement of heart rate indicates disease.

When Bundgaard first saw Sandager's ECG, he stood on a bar hill like any other doctor.

Superiors found it surprising how many of Sandager's family showed similar ECG changes.

Since Bundgaard has never seen anything similar, he brings an EKG at meetings and congresses and asks his colleagues what they think.

– After a while, a Dutch colleague and a colleague from Oxford first called. They started looking at the pattern because they found a family with several relatives with similar ECGs. "Explained Bundgaard.

When he saw a foreign patient's electrocardiogram, he undoubtedly failed the patients equally.

– Electrocardiograms are not the same as previously seen in other cardiac arrhythmia patients. Because we know of other heart diseases with the same symptoms, the disease does not stand out in front of it. What's new is that the patient's electrocardiogram is completely different from the electrocardiogram of the other patient, "said Bundgaard.

You can see a normal electrocardiogram on the left and a patient with heart disease on the right. Brand II, III, AVF, V4, V5 and V6 are displayed right after the tall spike. Keep the curve down and low before it goes up to normal. (Photo: Bundgaard et al.)
You can see a normal electrocardiogram on the left and a patient with heart disease on the right. Brand II, III, AVF, V4, V5 and V6 are displayed right after the tall spike. Keep the curve down and low before it goes up to normal. (Photo: Bundgaard et al.)
<! –

You can see a normal electrocardiogram on the left and a patient with heart disease on the right. Brand II, III, AVF, V4, V5 and V6 are displayed right after the tall spike. Keep the curve down and low before it goes up to normal. (Photo: Bundgaard et al.)

->

The pursuit of a diseased gene

Look for supercomputer genes.

  • Researchers have attempted to find a new heart disease gene using the world's largest computer data supercomputer, Computerome.
  • The researchers analyzed the data of the family with the disease and compared it with data from healthy people.
  • Researchers have found that about 300 genes, already known, are associated with heart disease, but have not found anything. Henning Bundgaard suggests this is a new disease.

Source: Henning Bundgard

Because the new heart disease is hereditary, the next step for the researcher is to determine the disease-bearing genome.

"If we can figure it out, we can probably get an answer to what kind of disease mechanism is completely eliminated at the cellular level," he says.

However, researchers could not find disease genes.

Bundgaard said, "Even if we were looking for light and light, we could not find it.

But he thinks the hunt for genes will be faster as the findings are published in the scientific journals.

– Heart patients all over the world will think of older patients with the same curve in the ECG. Therefore, we will study many patients.

How do you treat the disease?

Bundgaard says the doctors in the hospital's department are curing patients until they find genes that are suffering from heart disease.

He emphasizes that the current treatment is effective, but does not prevent the outbreak of the disease.

"When we find younger patients, we are trying to avoid situations that require heart therapy for life," he says.

"So we have to find the sick gene, and we can prevent the disease from happening.

© Videnskab.dk. Lars Nygaard translated it for research.

[ad_2]
Source link