Brugada Syndrome

RF
by Riley Fuchs0 views·Updated Mar 21, 2023

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  1. My name is Riley Fu
  2. and here's our project on Brigade
  3. Syndrome.
  4. What is Brugada
  5. syndrome?
  6. Brugada syndrome is a genetic disorder that
  7. can cause a dangerous irregular heartbeat.
  8. When this happens, the lower chambers of your heart also known as the ventricles.
  9. beat fast and irregularly.
  10. This prevents blood from circulating correctly in your body.
  11. This can be dangerous.
  12. It may lead to fainting or even death, especially during sleep arrest.
  13. The disease has been called sudden unexplained nocturnal death syndrome
  14. because people with it often die in their sleep.
  15. And here's a picture of the heart with the left ventricle and the right ventricle.
  16. Here are some single gene disorders.
  17. Single
  18. gene disorders consist of cystic fibrosis, hemochromatosis, tia
  19. single cell anemia.
  20. And even though these diseases are primarily caused by a single gene,
  21. several different mutations can result in the same
  22. disease but with varying degrees of severity and phenotypes
  23. Multifactorial disorders consist of birth defects such as cleft palate diabetes.
  24. Alzheimer's disease, schizophrenia, bipolar disorder and arthritis,
  25. multifactorial disorders are conditions caused by many contributing
  26. factors that are called complex or multifactorial disorders.
  27. Although complex disorders are often clustered in families,
  28. they do not have a clear cut pattern to inheritance.
  29. Here's a picture of a baby on the left with a unilateral
  30. cleft lip and then a bilateral cleft flip on the right.
  31. Some chromosomal disorders consist of down syndrome fragile x syndrome,
  32. Kleinfelter syndrome, triple X syndrome, Turner syndrome, Trisomy,
  33. 18 and 13 and S C N five A which is Brugada Syndrome.
  34. Many types of chromosomal abnormalities exist but they can be categorized
  35. as either numerical or structural
  36. numerical abnormalities are whole chromosomes,
  37. either missing from or extra to the normal pair
  38. structural abnormalities are when part of an individual chromosome is missing or
  39. an extra part is switched to another chromosome or turned upside down.
  40. And here's a picture of the normal heart conduction time
  41. which is 73 milliseconds and then on the left is Brugada
  42. syndrome which takes 100 7 milliseconds.
  43. Some symptoms of Brugada syndrome is dizziness, fainting,
  44. gasping and labored breathing,
  45. regular heart or palpitations and extremely
  46. fast and chaotic heartbeat and seizures.
  47. How is this diagnosed?
  48. Your health care provider may suspect you have it
  49. when you have any of the symptoms listed before.
  50. They may also ask if you have family history of
  51. the disease or an unexplained sudden death in the family.
  52. An electrocardiogram also known as E C G can assist in diagnosing this disease.
  53. Currently, there is no cure for Bogata syndrome,
  54. but there are ways to protect from the dangerous consequences of the disease.
  55. An implanted cardioverter defibrillator,
  56. also known as I CD can prevent sudden death from Bogata.
  57. I CD can detect the start of arrhythmia.
  58. It'll either stop with the pacing or deliver shock to,
  59. to reset the heart back into the regular rhythm.
  60. There is another possible treatment
  61. that's cardio
  62. ablation.
  63. This procedure performs the destruction of a small
  64. area of the heart tissue caused to find.
  65. trying to cause the dangerous arrhythmia.
  66. Brigada
  67. syndrome is very rare.
  68. About five of every 10,000 people worldwide are diagnosed each year.
  69. Symptoms usually start to show up during adulthood,
  70. although it can develop at any age
  71. The mutation that causes this disease
  72. is a
  73. mutation that causes this disorder is called S C N five A which is
  74. a gene that belongs to a family
  75. that provide instructions for making sodium channels.
  76. Verga
  77. is autosomal
  78. meaning a genetic trait or condition can be passed down from parent to child
  79. syndrome is a dominant trait and here is our pedigree.
  80. Here are Ponent Squares
  81. One additional fact is Brugada syndrome is
  82. named by the Spanish cardiologist Pedro Brugada
  83. and Joseph Brugada who reported it as a distinct clinical syndrome in 1992.
  84. The genetic basis of Brugada syndrome was established by Rahman Brugada in 1998
  85. Second fact fact is Brigada syndrome depends
  86. On early diagnosis and treatment. Brugada
  87. syndrome may be a major cause of sudden cardiac death in men under 40
  88. people with Brugada syndrome. On average, die between the ages of 26-56 years old
  89. with an average age of 40 years.
  90. and here are references.