Brugada Syndrome - Case Study Precise data regarding Brugada Syndrome with a Case Study for DGNM, B.Sc Nursing & M.Sc Nursing Students.

1. CASE PRESENTATION
ON
BRUGADA SYNDROME
By,
Mr. Aby Thankachan, M.Sc(N)
Tutor, Dept. of Medical Surgical Nursing,
KMCH College of Nursing, Coimbatore
KMCH COLLEGE OF NURSING, COIMBATORE
DEPARTMENT OF MEDICAL SURGICAL NURSING

2. Synopsis
▸ Case history of the patient
▸ Definition and Incidence of Brugada Syndrome
▸ Causes & pathophysiology
▸ Clinical features and diagnostic measures
▸ Medical and surgical management

3. Introduction
▸ In 1992, R. Brugada and J. Brugada were the first to describe a
syndrome characterized by right-bundle branch block (RBBB)
with ST segment elevation followed by an inverted T-wave in
the right precordial leads, which predisposes apparently healthy
subjects to Sudden Cardiac Death (SCD).
▸ This syndrome was later named after its discoverers as
‘BRUGADA SYNDROME’.
3

4. ▸ Since then, numerous scientific and clinical studies have been
conducted in order to clarify pathogenesis, clinical presentation,
and diagnostic criteria for this syndrome as well as methods for
sudden death risk assessment and treatment methods.
▸ It is important to know that other diseases such as acute
Myocardial Infarction (MI), arrhythmogenic right ventricular
dysplasia, or typical RBBB can be mistaken as the Brugada
pattern.
4

5. CASE
REPORT
5

6. 6
I am
Jayden
Smith
Mr . ********, 44 yrs / male
Kovaipudhur resident
Married Business man
C/o Retrosternal pricking chest pain – lasts for
few minutes, for past 3 days
Fever - 99.80 F
Palpitation episodes for past 3 days
Dizziness for past 2 days
No History of DM/HT/CAD or any other comorbidities.
Date of Admission : Feb 15 2021
Consultant: Dr. ***************, Cardiologist
PATIENT
PROFILE

7. 7
I am
Jayden
Smith
O/E:
PR - 100 bpm
RR - 24 bpm
B.P - 120/80 mmHg
C.V.S – S1S2+ , no murmurs
R.S – NVBS
C.N.S – NFND
P/A – Soft, no organomegaly
Physical
Examination

8. 8
I am
Jayden
Smith
ECG:
Before Ajmaline challenge test : administration of
Inj. Gilurytmal 50 mg / 10ml
NSR, ST – T changes in leads V1, V2, V3 & V4
PPRW - ? DCM
Pathological changes in leads II, III and aVF - ? Inferior
wall infarct
After Ajmaline challenge test : administration of
Inj. Gilurytmal 50 mg / 10ml
Sinus bradycardia
ST segment elevation in leads II, III and aVF
INVESTIGATIONS

9. 9
NSR, ST – T changes in leads V1, V2, V3 & V4
PPRW - ? DCM
Pathological changes in leads II, III and aVF - ? Inferior wall infarct

10. 10
Sinus bradycardia
ST segment elevation in leads II, III and aVF

11. 11
I am
Jayden
Smith
ECHO :
Normal LV functrion
LVEF = 60%
No RWMA, PAH, PE & clot
Trivial TR
INVESTIGATIONS

12. 12
Normal LV functrion
LVEF = 60%
No RWMA, PAH, PE & clot
Trivial TR

13. 13
I am
Jayden
Smith
Angiogram :
No Significant abnormality detected , Bilateral
Subclavian arteries, brachial arteries, aorta – its
branches, carotids and circle of willis are normal in
course, caliber and branching pattern.
Bilateral radial and ulnar arteries show adequate
contrast opacification.
No obvious thrombosis noted.
The aortic arch and its branches are normal.
Cardiac chambers appear normal.
INVESTIGATIONS

14. 14
I am
Jayden
Smith
INVESTIGATIONS
Blood Investigations
Troponin I - 0.52 ng/ml
Diagnosis: BRUGADA SYNDROME

15. 15
MANAGEMENT
MEDICAL MANAGEMENT
 T. Dolo 650mg
 T. Quinaglute 200mg
Pharmacological name : Quinidine ( Anti arrhythmic)
 T. Norpace , 100 mg
Pharmacological name : Disopyramide ( Anti arrhythmic)
 Inj. Isuprel, 0.05mg ,
Pharmacological name : Isoproterenol ( β adrenergic
agonist)
 T. Vascor, 200mg ,
Pharmacological name : Bepridil ( Amine calcium channel
blocker)

16. 16
MANAGEMENT
Patient refuses implantation of Automated
Intracardiac Defibrillator (AICD)
suggested by the consultant
cardiologist.

17. “
BRUGADA SYNDROME
17

18. history
Brugada syndrome is named after
the Spanish cardiologists Josep and
Pedro Brugada who described the
condition in 1992.
Although the association between
the characteristic ECG pattern and
sudden cardiac death had been
reported in 1989.
18

19. Brugada syndrome was described as a cause for the
sudden unexplained cardiac death syndrome seen in
Thai men in 1997.
The first genetic mutations affecting the SCN5A gene
associated with the syndrome were identified by their
brother Ramon Brugada in 1998,with many more
mutations affecting at least 19 genes subsequently
identified by others.
19

20. ▸ Studies in the 2000s led to competing theories
surrounding the mechanisms by which abnormal heart
rhythms were generated.
▸ Research into Brugada syndrome is ongoing, identifying
new genetic variants, exploring mechanisms of
arrhythmias, and searching for better treatments.
20

21. “ Syncopal episodes and / or sudden death in patients with a
structurally normal heart and a characteristic
electrocardiogram displaying a pattern resembling
right bundle branch block with ST segment
elevation in leads V1 to V3 ”
- Brugada
21
DEFINITION

22. “
▸ Brugada syndrome(BrS) is an heritable arrhythmia syndrome
characterized by an ECG pattern consisting of coved-type ST-segment
elevation (≥2 mm) followed by a negative T wave in the right precordial
leads V1 through V3 and increased risk for sudden death resulting
from episodes of ventricular tachyarrhythmias.
22
DEFINITION
Ref: Zipes(2015). Braunwald’s Heart Disease: A textbook of cardiovascular medicine,10th Edition,.

23. INCIDENCE
▸ More common in males, first arising at an average age of 40 years with
the age at diagnosis ranging from 2 days to 84 years.
▸8-10 times more prevalent in men than in women
▸Higher prevalence in south eastAsian populations.
▸Approximately 30 cases per 1,00000 population per year.
▸Major cause of sudden unexplained death syndrome (SUDS).
23

24. 24
Brugada syndrome is
inherited in an autosomal
dominant manner,
meaning that only one copy
of the defective gene is
needed to produce the
syndrome.

25. ▸ The individual cells of the heart communicate with each other with
electrical signals, and these electrical signals are disrupted in those
with Brugada syndrome.
▸ As a genetic condition, the syndrome is ultimately caused by changes to a
person's DNA, known as genetic mutations.
▸ The first mutations described in association with Brugada syndrome
were in a gene responsible for a protein or ion channel that controls the
flow of sodium ions through the cell membrane of heart muscle cells –
the cardiac sodium channel.
CAUSES
25

26. ▸ A long list of factors that can generate a Brugada ECG pattern have been
described, including certain medications, electrolyte disturbances such
as a hypokalemia, and a reduction in blood supply to key areas of the
heart, specifically the right ventricular outflow tract.
▸ Drugs that have been implicated include antiarrhythmic medications such
as flecainide, verapamil and propranolol, antidepressants such
as amitryptiline, and drugs that enhance vagal tone such as acetylcholine.
▸ The ECG pattern can also be seen following excessive use
of alcohol or cocaine.
CAUSES
26

27. CAUSES
Genetics
Brugada syndrome is inherited in an autosomal dominant manner, meaning
that only one copy of the defective gene is needed to produce the syndrome.
However, a person diagnosed with the condition may be the first in their
family to have Brugada syndrome if it has arisen as a new mutation.
The gene in which mutations are most commonly found in Brugada
syndrome, known as SCN5A, is responsible for the cardiac sodium channel.
Mutations in SCN5A associated with Brugada syndrome generally cause the
flow of sodium ions to decrease.
27

28. CAUSES
Genetics
However, only 20% of cases of Brugada syndrome are associated with mutations in
SCN5A, as in the majority of patients with Brugada syndrome, genetic testing is unable to
identify the genetic mutation responsible.
Over 290 mutations in the SCN5A gene have been discovered to date, each altering
sodium channel function in subtly different ways.
Severity of the condition explains in various ways in between different persons, ranging
from a highly dangerous condition causing death at a young age to a benign condition that
may not cause any problems at all.
28

29. CAUSES
Genetics
▸ Some members of a family who carry a particular mutation may show
evidence of Brugada syndrome while other carrying the same mutation
may not, referred to as variable penetrance.
▸ Several other genes have been identified, which is responsible for other
proteins that form part of the sodium channel, known as sodium channel
β subunits (SCN1B, SCN2B, SCN3B) while others form different types of
sodium channel (SCN10A).
29

30. CAUSES
Genetics
▸ Some genes encode ion channels that carry calcium or
potassium ions
(CACNA1C, CACNB2, KCND3, KCNE3, KCNJ8), while others
generate proteins that interact with ion channels.
(GPD1L, PKP2, MOG1, FGF12).
▸ Another gene associated with this condition is RRAD
30

31. 31

32. PATHOPHYSIOLOGY
32
SCN5A
Mutation Dilatedright
ventricle
Transmyocardial
changes
VentricularArrythmia – Brugada
Pattern

33. ▸ SCN5A, the gene most commonly associated with the condition, along with SCN10A,
SCN1B, SCN2B and SCN3B, all directly affect the sodium current (INa)
▸ The sodium current is a major contributor to the characteristic flow of electrical
charge across the membrane of heart muscle cells that occurs with each
heartbeat known as the action potential.
▸ Causes the initial rapid upstroke of the action potential, leads to slowing of the
electrical conduction through the heart muscle.
▸ This slow conduction allows 'short circuits' to form, blocking the waves of
electrical activity in some areas while allowing the waves to pass in others in a
phenomenon known as wave break causing an abnormal heart rhythm.
33

34. Signs and symptoms
▸ While many of those with Brugada syndrome do not have any
symptoms, Brugada syndrome may cause fainting or sudden cardiac
death due to serious abnormal heart rhythms such as ventricular
fibrillation or ventricular tachycardia.
▸ Blackouts may be caused by brief abnormal heart rhythms that
revert to a normal rhythm spontaneously.
▸ If a dangerous heart rhythm does not stop by itself and is left untreated,
the person may have a fatal cardiac arrest.
34

35. ▸ However, blackouts can occur in those with Brugada syndrome despite a
normal heart rhythm due to a sudden drop in blood pressure, known
as vasovagal syncope.
▸ The abnormal heart rhythms seen in Brugada syndrome often occur at
rest, following a heavy meal, or even during sleep.
▸ Abnormal heart rhythms may also occur during fever or following
excessive alcohol.
35

36. Diagnostic evaluations
▸ Brugada syndrome is diagnosed by identifying characteristic
patterns on an Electrocardiogram.
▸ The pattern seen on the ECG includes ST elevation in leads V1-
V3 with a right bundle branch block (RBBB) appearance.
▸ Slowing of electrical conduction within the heart, as shown by a
prolonged PR interval.
▸ The ECG pattern may become more obvious by performing an
ECG in which some of the electrodes are placed in different
positions from usual, specifically by placing leads V1 and
V2 higher up the chest wall in the 1st to 3rd intercostal
spaces. 36

37. Lead placement In BrS
37

38. TYPES
Brugada syndrome has three
different ECG patterns
1. Type 1 has a coved type ST
elevation with at least 2 mm
(0.2 mV) J-point elevation and a
gradually descending ST
segment followed by a negative
T-wave.

39. TYPES
2, Type 2 has a saddle-back
pattern ( ridge like appearance
along the top that dips in the middle)
with a least 2 mm J-point elevation
and at least 1 mm ST elevation with a
positive or biphasic T-wave. Type 2
pattern can occasionally be seen in
healthy subjects.

40. TYPES
3. Type 3 has either a
coved (type 1 like) - rare
or a saddle-back
(common) (type 2 like)
pattern, with less than 2
mm J-point elevation and
less than 1 mm ST elevation.

41. ▸ According to AHA recommendations, only a Type 1 ECG
pattern, occurring either spontaneously or in
response to medication, can be used to confirm the
diagnosis of Brugada syndrome as Type 2 and 3
patterns are not infrequently seen in persons
without the disease.
41

42. Provocation testing
▸ Some medications, particularly antiarrhythmic drugs that block the
cardiac sodium current, INa, can reveal a Type 1 Brugada pattern in
susceptible people.
▸ The most commonly used drugs for this purpose are Ajmaline, Flecainide,
& Procainamide, with some research suggestions indicating that ajmaline
may be the most effective.
▸ Precaution must be taken in giving these medications as there is a small
risk of causing abnormal heart rhythms.
42

43. ▸ Ref : Manoj et.al (2011), How to Perform and Interpret Provocative Testing for the Diagnosis of
Brugada Syndrome, American Heart Association – Journal of Advances in Arrhythmia and
Electrophysiology.
43

44. “
44

45. 45
Rest
Provocation

46. Genetic testing
▸ Genetic testing can be helpful to identify patients with Brugada
syndrome, most commonly in family members of a person with Brugada
syndrome.
▸ However, interpretation of the results of genetic testing is challenging.
▸ In family members who all carry a particular genetic variant associated
with Brugada syndrome, some family members may show evidence of
Brugada syndrome on their ECGs while others may not. This means that
carrying a genetic mutation associated with Brugada syndrome does not
necessarily imply that a person is truly affected by the condition.
46

47. Other investigations
▸ Invasive electrophysiological
studies, in which wires are passed
through a vein to stimulate and
record electrical signals from the
heart, can sometimes be used to
assess the risk of a person with
Brugada syndrome experiencing
dangerous abnormal heart rhythms.
47

48. Other investigations
▸ Ambulatory ECG monitoring,
including implantation of
a loop recorder, is sometimes
used to assess whether
dizziness or faints in a person
with Brugada syndrome are
due to abnormal heart
rhythms or other causes such
as vasovagal syncope.
48

49. ▸ The main aim when treating people with Brugada syndrome is
○ to reduce the risk of sudden death due to serious abnormal heart
rhythms such as ventricular fibrillation or ventricular tachycardia.
○ While some with this condition are at high risk of serious heart
rhythm disturbances, others are at much lower risk, meaning that
some may require more intensive treatment than others.
○ In addition to treating the person who has Brugada syndrome, it is
often important to investigate members of their immediate family
to see if they too carry the condition
49

50. Lifestyle modifications
▸ People should be advised to recognise and avoid things that may increase
the risk of serious arrhythmias, includes avoiding excessive alcohol
consumption, avoiding certain medications, and treating fever promptly
with paracetamol.
▸ Although the abnormal heart rhythms seen in Brugada syndrome are
generally more likely to occur at rest or even during sleep, some
people with Brugada syndrome experience arrhythmias during strenuous
exercise. Some physicians may therefore advise people with Brugada
syndrome that while gentle exercise is helpful, very strenuous
exercise should be avoided. 50

51. Implantable defibrillator
▸ In people felt to be at higher risk of sudden cardiac
death, an Implantable Cardioverter-Defibrillator (ICD)
may be recommended.
▸ Implanted under the skin continuously monitor the heart
rhythm. If the device detects a potentially life-
threatening arrhythmia it can give the heart a small
electric shock, stunning the heart back into a normal
rhythm.
▸ An ICD can also function as a pacemaker, preventing
abnormally slow heart rates that can also occur in people
with Brugada syndrome.
51

52. Implantable defibrillator
▸ Implanting an ICD is a relatively
low-risk procedure and is
frequently performed as a day case
under local anaesthetic.
▸ However, complications such as
infection, bleeding or
unnecessary shocks can occur,
which can sometimes be serious.
52

53. MEDICATIONS
▸ Quinidine is an antiarrhythmic drug that may reduce the chance of serious
abnormal heart rhythms occurring in some people with Brugada syndrome.
▸ It is most frequently used in people with Brugada syndrome who have an
ICD and have experienced several episodes of life-threatening arrhythmias,
but may also be used in people at high risk of arrhythmias.
▸ Isoprenaline, a drug that has similarities with adrenaline, can be used in
an emergency for people with Brugada syndrome who are having frequent
repeated life-threatening arrhythmias, known as an "electrical storm".
53

54. Catheter ablation
▸ A further treatment option for people with Brugada syndrome
is Radiofrequency Catheter Ablation.
▸ In this procedure, wires are passed through a vein in the leg into the heart,
or through a small hole underneath the sternum.
▸ These wires are used to find the area of the heart responsible for
initiating the arrhythmias.
▸ The tip of one of these wires is used to make a series of tiny burns,
intentionally damaging the area of abnormal heart muscle that has been
causing the problem.
54

55. 55

56. Journal Articles
▸ Fatima AlKendi et.al (2013) done a case study with a 45-year-old man presented to the
hospital with a history of palpitations, presyncope and chest pain. Vital signs and physical
examination were unremarkable. Initial ECG revealed sinus rhythm with non-specific ST
changes. Subsequent ECGs showed changes in V1 and saddle-back pattern of ST elevation
in lead V2, indicative of type 2 Brugada ECG pattern with ventricular tachycardia. Ajmaline
challenge test confirmed the diagnosis of Brugada syndrome. The subsequent rise and
fall of cardiac biomarkers was suggestive of acute myocardial infarction which was
refuted by having normal coronaries by cardiac catheterisation. Echocardiogram showed
normal cardiac structures and function without any evidence of myopericarditis.
Automated intracardiac defibrillator was recommended which the patient declined.
56
Ref : Case Report: Brugada syndrome with elevated cardiac biomarkers (nih.gov)

57. ▸ Vesna et.al (2012) done a case study with a 23-year-old man was admitted to the
Coronary Care Unit due to weakness, fatigue and chest discomfort. The patient suffered
from fainting and palpitations. There was a family history of paternal sudden death at
36 years. Electrocardiogram showed a coved ST segment elevation of 4 mm in leads V1
and V2, recognised as spontaneous type 1 Brugada pattern. Laboratory investigations
revealed normal serum cardiac troponin T and serum potassium, and absence of
inflammation signs. Echocardiographic finding was normal, except for a mild
enlargement of the right atrium and ventricle. The diagnosis of Brugada syndrome was
made by Brugada-type 1 electrocardiogram and the family history of sudden death <45
years. The patient was considered as a high risk, because of pre-syncope and
palpitations.
57

58. ▸ He underwent ICD implantation (Medtronic MaximoVR7232Cx) using
the standard procedure. After implantation, noninvasive
electrophysiology study was done and demonstrated inducible VF
that was interrupted with the second 35 JDC shock. The patient was
discharged in stable condition with beta-blocker therapy. After a
year of pacemaker check-ups, there were no either VT/ VF events or
ICD therapy.
58
Ref: [Brugada syndrome: case report] - PubMed (nih.gov)

59. 59