'Deadly dreams'; Modern genetics reveals secrecy surrounding a strange disease

IDecember 1981, the Centers for Disease Control (the name was amended to insert “Prevention” in 1992) a report detailing unexpected, unexpected deaths during sleep among young refugees, male, Southeast Asia in the United States mostly largest. Thirty-three of those who died, four from Vietnam, and one from Cambodia were from Laos. “The turmoil of reported deaths here is compatible with cardiac biochemistry,” the report said, “but the basic mechanism remains clear. nothing could be created. So he began sudden unexplained death syndrome, or SUDS, and was quickly identified as the leading cause of death among young men from Southeast Asia.

This syndrome, which occurred, caused the people of South East Asia throughout the generations. In the Philippines, he was given a bangungot, the word Filipino for nightmare. “The deadly dreams are well known; among the lay people, ”Philippine's medical journal said as far back as 1917,“ that many of them respect them, without fierce terrorism ”. housing; in Japan, pokkuri. Whatever the name, the syndrome was the same: sudden death of young men fitness, often at night.

Halfway around the world, Pedro Brugada, a cardiac electrophysist in the Netherlands, became similar calming properties in 1986 when a Polish engineer named Andrea Wockeczek brought into his office his 3 year old son. The boy, Lech, had frequent attacks. On different occasions, Wockeczek made chest compression and mouth-to-mouth breathing to revive it.

Wockeczek was tragically aware of these attacks. Her daughter 2 years old, Eva, had died several months earlier under similar circumstances. Doctors at his local hospital in Poland were unable to explain why she died, and because of Lech's signs as they were. They suggested that the boy be taken to Brugada, who was developing a reputation throughout the continent as an arrhythmia specialist.

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Wockeczek wants to save his son from the country. The father had a nervous breakdown, Brugada told me several years ago from the Cardiovascular Research and Teaching Institute in Aalst, Belgium, where he worked there. “He kept telling me, liom I can't stay here and you have to look after my son. ”

Brugada's first impression was that Lech was perfectly healthy. He was big for his age, with deep blue eyes and pale blond locks. Her real heart beat, too, but when Brugada examined her EKG, he saw a pattern he had never seen before, very unusual, was like a shark fin. “I was worried,” said Brugada. “The worst thing is, of course, that the daughter's precedent was there.”

Lech was admitted to the coronary care unit at Maastricht University. For the first two days, it was fine. On the third day, however, he developed sore throat and mild fever. That night, there were telemetry alarms. When a nurse came to bed, Lech was unconscious, and a monitor showed that fiber had a heart. The nurse started CPR, and an external defibrillator shock was applied, restarting the small heart.

“This is how he went with Eva, '' said the hysterical father to Brugada, 'and she finally died in spite of everything.'

After the arrhythmia, each test was done. A catheter placed in the heart of the boy showed that there were no coronary anomalies. X-rays and echocardiogram were normal. Tiny biopsies built for his heart were negative.

Lech stayed in hospital for several weeks. There were more heart-catching incidents involving cocktails of anti-rhythmic drugs. In the end, a pacemaker was used to keep a minimum heart beat, as doctors said that often began to arrhythmias during sleep, when his heart beat slowed. (Implantable defibrillators were not yet widely available.)

Despite the long investigation, the ventricular fibrillation remained without diagnosis. The father and son returned to Poland with a follow-up with Brugada. (Finally, they found refuge in the Netherlands for medical reasons.) When they returned to see Brugada, EKG's Wockeczek gave his daughter, Eva, from the EK. It was equivalent to Lech's.

In the next few years, Brugada searched this electrical pattern in other heart arrest victims. “I looked everywhere for this EKG but I didn't get anything,” he said to me. EKGs were then brought to the attention of two patients, a man from the Netherlands and a Belgian man who fell apart. He collected more of these abnormal EKGs and, with his brother Josep, published his findings in the Journal of the American College of Cardiology. They said it could be a separate clinical and electromagnetic syndrome.

A few years later, scientists found that patients with the disease have mutation in gene (called SCN5A), which controls the flow of sodium into heart cells, so they are activated electrically. Patients did not have the mutation without the disease. Based on these comments and other opinions, scientists decided that a mutation in SCN5A is responsible for the deadly arrhythmias in Brugada syndrome.

Brugada syndrome is now believed to account for as many as 20 per cent of deaths in patients with normal hearts. With increased recognition, the number of cases diagnosed in recent years has grown. It is most popular in Southeast Asia. However, it is clear that one in 5,000 people could be at risk in the United States. While the disease usually occurs early in the middle of the age, cases in children were reported only a few days old. SCN5A mutations are now found in other sudden death syndromes, including sudden infant death, or SIDS, suggesting that Brugada syndrome and SIDS may be linked. The only effective treatment now is an implantable defibrillator.

Research on Brugada syndrome is a great example of how modern genetics and epidemiological spells can cause a disease even if it is so secretive. As friendships continue, new heart diseases will be recognized, and molecular genetics will allow us to imagine heritage risks in ways we never thought. But resources are limited: It is estimated, for example, that more than 150,000 Americans may be at risk of sudden death from Brugada syndrome. If a defibrillator were $ 30,000 per person, the cost could be billions of dollars. As with Brugada Syndrome, modern techniques could clarify the cause of the disease or make treatment that will allow us to live with disease but not to cure it. And so maybe we will have to ask early: Can we know the truth about the many diseases we might be at risk?

He is a Cardiologist and Director of the Heart Failure Program at the Long Island Jewish Medical Center. He is an opinion writer for the New York Times and the author of three books, “Heart: A History.” Follow him on Twitter @sjauhar

A version of this article was originally published on the Undark website “Secret Ly Deadly Dreams Syndrome resolution” and has been republished here with permission.

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