Brugada syndrome:
Unmasking a silent killer
Learn to recognize this genetic disorder that can cause sudden death
in apparently healthy young people.
By Leslie Foran Lee, RN, and Nancy Felmlee, BSN, RN
DEALING WITH THE DEATH of an apparently
healthy young person is one of the challenges we face
in healthcare. A person may just not wake up one morn-
ing, or die suddenly while resting on the sidelines after
the big game. This mystery of sudden death has baffled
healthcare providers for centuries. One of the links
to this mystery is Brugada syndrome, or unexplained
sudden cardiac death syndrome, a genetic disorder that
causes syncope or death in young people with no appar-
ent cardiac history. Since the syndrome was described
by Pedro and Josep Brugada in 1992, Brugada syndrome
has attracted great interest because of its high incidence
in many parts of the world and its association with
a high risk of sudden death, especially in men ages 30
to 50.1
The syndrome is characterized by ST-segment eleva-
tion in the right precordial leads (V1, V2, and V3) and a
high incidence of sudden death. Many different clinical
situations or drugs can exacerbate or unmask a Brugada-
like ECG pattern.2
Risks and mortality
Although the genetic mutation responsible for Brugada
syndrome occurs equally in men and women, the
prevalence of the syndrome is 8 to 10 times higher in
men.1
Recent studies have shown that, for unknown rea-
sons, Brugada syndrome is far more common in Asian
men. They are healthy individuals with no apparent
cardiac history. After history and physical exam of these
men, it was found that there was a family history of ei-
ther syncope or sudden death. The syncopal episodes or
sudden deaths followed rigorous exercise, or occurred
during sleep, or were exacerbated by a fever. In the last
several years, risk stratification has become the prefer-
Cardiac Insider
red way to accurately identify and treat these patients.
The risks are the presence of symptoms before diagno-
sis, a spontaneous type 1 ECG at baseline, inducible
ventricular dysrhythmias in an electrophysiology (EP)
lab, and being male.3 (See A closer look at Brugada syn-
drome for details on ECG patterns found with the syn-
drome.)
Pathophysiology
Brugada syndrome is an ion channel disorder, which
results in the abnormal electrical activity in the epicar-
dial cells of the right ventricle. How this actually occurs
is under investigation, but a familial occurrence is noted
to be present in about half the patients with Brugada
syndrome, suggesting a genetic component to the dis-
ease. Also suggestive of a genetically determined disease
is the clustering of the first onset of symptoms at ages
30 to 50. Recent studies show a confirmed genetic asso-
ciation in 10% to 30% of patients, with mutations in
the SCN5A gene that encodes the cardiac sodium
channel. The result is a loss of proper function of the
sodium channel and a predisposition to ventricular
fibrillation (VF).4
Because the sodium channel plays a key role in
conducting cardiac impulses, reviewing it can help you
better understand the pathophysiology of Brugada syn-
drome. The sodium channel has two main functions:
moving sodium ions across the pores in the cell mem-
brane and gating (opening or closing in response to
changes in membrane potential).5 The cardiac sodium
channel opens and closes rapidly at the onset of the car-
diac action potential. In Brugada syndrome, the channel
is perpetually closed.6
Genetic defects in the membranes’ ion channels
can disrupt the delicate balance of dynamic interactions
8 Spring 2010
between the ion channels and the cellular environment,
leading to altered cellular function. A single mutation
in the sodium channel is enough to cause Brugada
syndrome and contribute to the genesis of cardiac
dysrhythmias.5
Recognizing the problem
About 8% of asymptomatic patients with Brugada waves
on ECG have subsequent cardiac events.3 Although this
number will undoubtedly grow as research continues,
many clinicians feel it’s not possible to justify genetic
studies, endocardial biopsies, magnetic resonance imag-
ing, EP studies, and coronary arteriography in every
patient in whom this syndrome is suspected.7
Brugada syndrome can be diagnosed based on the
patient’s ECG and family history. (Other tests may be
done to rule out other cardiac conditions.) Three types
of ECG patterns in the right precordial leads are recog-
nized, and often all three are present in the patient.
However, Brugada syndrome can only be definitively
diagnosed if the patient has the type 1 ECG pattern in
more than one right precordial lead (V1–V3), in the
presence or absence of a sodium channel blocking
drug, such as flecainide or procainamide, and one of
the following:
A closer look at Brugada syndrome
The waveform shows the coved-type ST-segment elevation in leads V1 and V2 that are characteristic of type 1 ECG
patterns you may see in a patient with Brugada syndrome. Diagnostic criteria for Brugada syndrome, based on ST-
segment abnormalities in leads V1 through V3, are outlined in the table.
Type 1
J point ≥2 mm
T wave Negative
ST-T configuration Coved
ST segment (terminal point) Gradually descending
Spring 2010
• documented VF
• documented polymorphic ventricular tachycardia (VT)
• family history of sudden death at an age younger than
45 years
• the presence of coved-type ECG in family members
• inducible ventricular dysrhythmias with programmed
electrical stimulation
• syncope
• nocturnal agonal respirations.3
The right precordial ST-segment elevation associ-
ated with this syndrome can be mistaken for other
cardiac problems, including acute pericarditis, acute
myocardial ischemia or infarction, and Prinzmetal
angina. (See What’s up with the ST segment? for de-
tails on differentiating Brugada syndrome from other
conditions.)
If you’re caring for a patient who had a syncopal
episode but has no history of cardiac disease, obtain an
extensive history and perform a careful physical assess-
ment. If you suspect Brugada syndrome, place the right
precordial leads slightly higher on the patient’s chest to
capture a complete right bundle-branch block or type 1
ECG pattern. Place leads V1 and V2 at the third inter-
costal space to the right and the left of the sternal border,
instead of at the fourth intercostal space.6
Type 2 Type 3
≥2 mm ≥2 mm
Positive or biphasic Positive
Saddleback Saddleback
Elevated ≥1 mm Elevated <1 mm
9 Cardiac Insider
 Assess and support the patient’s airway, breathing,
and circulation. Make sure he has a patent airway and
have resuscitation equipment readily available. Place the
patient on a cardiac monitor, establish vascular access,
and administer supplemental oxygen as indicated. Doc-
ument and inform the healthcare provider of any car-
diac rate or rhythm abnormalities.
Because the ECG pattern in Brugada syndrome pa-
tients can be dynamic, you may not see the characteristic
hallmark signs. To unmask the ECG pattern and aid in
diagnosis, patients may be given an infusion of sodium
channel blockers to increase the sodium channel dys-
function. Commonly used drugs include flecainide and
procainamide. The patient undergoing the pharmaco-
logical challenge test should have continuous ECG mon-
itoring, and emergency equipment and supplies need to
be immediately available. The study should be termi-
nated when the test is positive, if the patient develops
premature ventricular beats or other dysrhythmias, or
the patient’s QRS complex widens to 130% or more of
baseline.3 Monitoring the patient after testing is an im-
portant nursing implication. Watch for changes in vital
signs, cardiac dysrhythmias, near-syncope, or syncope,
and intervene as appropriate.
The patient may need a cardiac EP study, depending
on his clinical status. An EP study may not be needed for
a patient who has classic Brugada waves after VT has re-
verted to normal. (This patient will need an implantable
cardioverter-defibrillator [ICD].1)
An asymptomatic patient with Brugada waves in a
routine ECG may need an EP study; if VT can be in-
duced, the patient should receive an ICD.
Treating Brugada syndrome
A patient whose Brugada syndrome isn’t treated has a
very poor prognosis. One-third of patients who suffered
syncopal episodes or were successfully resuscitated after
sudden cardiac death develop a new episode of poly-
morphic VT within 2 years.8
No drugs have reduced the VT or VF in patients
with Brugada syndrome. Because the dysrhythmias are
ventricular in nature, the primary treatment is ICD im-
plantation, although the treatment is controversial be-
cause an ICD carries the risk of inappropriate shocks.
Educate the patient and family members about Brugada
syndrome and cardiopulmonary resuscitation. Genetic
counseling also is recommended.2
On the alert
By understanding Brugada syndrome, taking a careful
patient history, and being able to differentiate ECG
Cardiac Insider
What’s up with the ST segment?
A normal variant found in 90% of healthy young men
is an ST-segment elevation of 1 to 3 mm, most
marked in lead V2, appearing concave on the ECG.
Here’s how the ST segment looks in other conditions:
• Brugada syndrome—rSR’ pattern in leads V1 and
V2, with a downsloping ST-segment elevation in V1
and V2.
• Left ventricular hypertrophy—Concave ST segment.
The patient also will have other electrocardiograph-
ic features of left ventricular hypertrophy.
• Acute pericarditis—Diffuse ST-segment elevation
and reciprocal ST-segment depression in lead aVR
but not aVL. ST-segment elevation is rarely greater
than 5 mm; you’ll also see PR segment depression.
• Hyperkalemia—Widened QRS complex and tall,
peaked, tented T waves. Low-amplitude or absent P
waves, and a usually downsloping ST segment. The
patient will also have other electrocardiographic
features of hyperkalemia.
• Pulmonary embolism—Changes simulating myocar-
dial infarction in inferior and anteroseptal leads.
• Acute myocardial infarction—ST segment with a
plateau, shoulder, or upsloping pattern.
• Prinzmetal angina—Same ST-segment elevation as
in myocardial infarction, but transient.
Source: Kyuhyun W, Asinger R, Marriott HJL. ST segment
elevation in conditions other than acute myocardial infarc-
tion. N Engl J Med. 2003;349(22):2128.
abnormalities, you may be able to recognize this syn-
drome in a patient and help him get appropriate care. ■
References
1. Antzelevitch C. Brugada syndrome. Pace. 2006;29:1130-1159.
2. Hugues A, Dizon JM. Brugada syndrome. http://emedicine.
medscape.com/article/163751.
3. Benito B, Brugada R, Brugada J, Brugada P. Brugada syndrome.
Prog Cardiovasc Dis. 2008;51(1):1-22.
4. Mattu A, Rogers R, Kim H, Perron A, Brady W. The Brugada
syndrome. Am J Emerg Med. 2003;146-151.
5. Grant A. Molecular Biology of Sodium Channels and Their Role
in Cardiac Arrythymias. http://www.americanheart.org/presenter.
jhtml?identifier=3000452.
6. Glatter KA, Chiamvimonavat N, Xu D. Evaluation of the critical
care patient with Brugada syndrome. Crit Care Med. 2005;33(7):
25-26.
7. Ahn J, Willis H. Worrisome thoughts about patients with
Brugada waves and the Brugada syndrome. Circulation. 2004;
109:1463-1467.
8. Mapfre Medical Foundation. Prognosis and treatment.
http://www.brugada.org/about/disease-prognosistreatment.htm.
Leslie Foran Lee and Nancy Felmlee are staff development spe-
cialists in clinical education and research at Virtua Health in
Mount Laurel, N.J.
10 Spring 2010