Download Brugada`s Syndrome

Presented by: Fran Connolly
Prime Care Physicians
Preceptor: Dr. Jose David
Completed his residency at
Albany Medical College in
1991
Started at Prime Care in
1997
Board Certified in Family
Practice in 2003
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Patient & Encounter
M.E. is a 28 year old white male
who presents in his primary care
office for his annual physical exam
on March 27, 2014.
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History of Present Illness
Initial visit: 2/5/2013
Pt c/o intermittent
palpitations, felt his
heart beating fast &
irregular.
Episodes last 3-4
hours and stop
spontaneously,
usually happened at
night.
Denied any C.P.,
syncope, SOB or
dizziness.
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At that visit pt
received Holter
monitor for 24 hour
period which
showed a 4 hour
episode of
paroxysmal atrial
fibrillation that was
symptomatic.
He stated most of
the time events
were triggered by
large meals or
alcohol.
HPI (continued)
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Pt was started on Toprol XL 50 mg
PO daily & Aspirin 325 mg PO
daily
Second visit: 3/8/2013
Pt states he has been having
several episodes of a-fib over the
past two weeks, lasts a couple of
hours.
Changed medication to Rythmol
225 mg PO BID
HPI (continued)
Third visit: 4/29/2013
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f/u pt had AICD pacemaker placed on
4/21/2013.
Pt was jogging and had a syncopal episode,
which he woke spontaneously from.
Brought to the ER which his EKG revealed
evidence of Brugada syndrome, pacer
placed.
D/C on Sotalol 160 mg PO BID, Toprol XL
50 mg PO BID & ASA 81 mg PO daily.
Driving restriction placed for 6 months.
HPI (continued)
Fourth visit: 7/9/2013
Pt continues with daily,
intermittent episodes of
a-fib
f/u and plan for radio
frequency ablasion
therapy
pt started on Coumadin
Tests ordered prior to
ablasion: TEE & CT chest
Ablasion done on
9/12/2013 without
incidence.
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Visits up-to-date of
3/27/2014:
Med changes: Currently on
Toprol XL 50 mg PO BID &
ASA 81 mg PO daily.
Currently awaiting
insurance approval for
genetic testing regarding
Brugada’s syndrome, denied
the first time and there is an
appeal in to the insurance
company.
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Past Medical History
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Mononucleosis, hospitalized for 2
days 6/2007.
Denies all other history including
HTN, hyperlipidemia, stroke, lung
disease, asthma, liver, kidney or
gallbladder disease, cancer,
diabetes, thyroid, hepatitis, TB or
psychiatric disorders.
Denies any allergies to drugs,
food, latex or environment.
Only medications are Toprol XL
50 mg PO BID & ASA 81 mg PO
daily.
Social History:
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Married with a 6
year old son.
Employed as an
investment banker,
financially secure.
Denies smoking or
illicit drug use,
states he rarely
drinks alcohol or
caffeine.
Exercises 5x week, 1
hr day.
Family History:
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Mother- DMII
Father- HTN
PGF- deceased @
52 from MI
P (great) GF –
deceased @ 60
from MI
Denies any other
family history of
cardiac issues
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Review of Systems:
General: Denies any fever, chills,
fatigue, night sweats, appetite or
weight changes.
Head: Denies any headache,
dizziness, syncope or head injuries
Resp: Denies any pain, dyspnea,
orthopnea, wheezing, asthma,
bronchitis, hemoptysis or SOB.
CV: Denies any C.P., murmurs,
edema or palpitation @ this visit.
Neuro: Denies any fainting,
seizures, numbness, loss of
sensation or tingling, tremors,
speech difficulties or change in
memory.
Physical Findings
Constitutional: BP106/72, HR 68, RR 16, 98%
Ht: 6’5” Wt: 212 lbs BMI: 26
General: Well nourished, well developed man.
Alert & oriented x 3. Calm & cooperative.
Appropriate mood & affect.
Skin: Pink, warm & dry. No rashed or lesions.
Scar over pacer placement on right chest wall
Resp: Pt sitting upright, resp resting 16/min,
regular & even. Chest expansion symmetric.
No tenderness to palpation. Lungs clear
throughout lung fields anterior & posterior.
No rales, rhonchi or wheezes heard.
Physical Findings
CV: S1S2 present in APETM w/ bell &
diaphragm. Regular apical rate. No heaves or
thrills. No murmurs, rubs, gallops or clicks.
RRR. Apical pulse not palpable in 5th ICS @
LMC. Carotids 2+ equal bilat, internal jugular
veins pulsation not present.
PV: Extremities pink, warm to touch. No
edema. Pulses 2+ symmetric in radial &
dorsalis pedals. No varicosities. Cap refill <3
seconds. No carotid bruit.
Differential Diagnosis
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Paroxysmal atrial fibrillation
(427.31)
Cardiac dysrhythmia (427.9)
Paroxysmal supraventricular
tachycardia (427.0)
Hyperthyroidism (242.9)
Brugada’s syndrome (746.89)
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Diagnostic Tests
EKG (2/5/13)- sinus rhythm. Rate 67. PR
188 QRS 118 QT 401. RSR Prime in lead V1
suggests right ventricular conduction
delay. Poor R-wave progression.
Holter (2/5/13)- SR w/ low grade atrial &
ventricular ectopy & 4 hour episode of A-fib
ECHO (2/15/13)- Mild left ventricular
hypertrophy. Dilated left atrium.
CT chest (8/21/13)- 4 pulmonary veins
TEE (8/21/13)- left ventricle is mildly
dilated w/ normal systolic function (EF
60%), mild left atrial enlargement.
Labs
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Cholesterol 189, triglycerides 121,
HDL 42, LDL 123
WBC 5.9, H/H 49/15, PLT 304
Glucose 110, K 4.0, Ca 8.7
BUN 133333, Cr 1.2
AST 18, ALT 21
TSH 2.253, T4 7.7, T3 34, &
free TI 2.6
Diagnosis
• Atrial Fibrillation (427.31)
• Brugada’s Syndrome
(746.89)
• However awaiting genetic
testing to confirm 2nd dx.
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Brugada’s Syndrome
Potentially life-threatening heart rhythm disorder
(Mayo Clinic, 2011).
This is a disorder characterized by an EKG pattern
which has an incomplete right bundle branch block &
ST-segment elevations in the anterior precordial
leads (Dizon & Zanif, 2014)
This EKG abnormality is known as the type -1
Brugada syndrome EKG & combined with an absence
of heart abnormalities will give the diagnosis.
This type of EKG is linked to increase risk for
ventricular tachyarrhythmias, cardiac arrest &
sudden death.
Shows familial aggregation.
(Postema, et al., 2009)
Brugada’s Syndrome
• It is recognized to cause sudden
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cardiac death at a relatively young
age and most patients are
asymptomatic.
The typical patient is a young, male,
and otherwise healthy, with normal
general medical and cardiovascular
physical examinations.
Genetic testing can be done for
mutation in SCN5A.
(Dizon & Zanif, 2014)
Signs & Symptoms
• Syncope and cardiac arrest: in many
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cases, cardiac arrest occurs during
sleep or rest
Nightmares or thrashing at night
Asymptomatic, but routine ECG shows
ST-segment elevation in leads V1-V3
Associated atrial fibrillation (20%)
Fever: Often reported to trigger or
exacerbate clinical manifestations
(Dizon & Zanif, 2014)
Pathophysiology
• A disease caused by an alteration in the
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transmembrane ion currents that
together constitute the cardiac action
potential.
In 10-30% of cases a mutation of the
SCN5A gene, which encodes the cardiac
voltage-gated sodium channel have been
found.
This reduces the sodium current available
during early repolarization & hence the ST
elevations on EKG.
(Dizon & Zanif, 2014)
Etiology
• SCN5A gene mutation
• Many drugs can induce the type-1
EKG in Brugada syndrome & should
be avoided:
• Antiarrhythmics- Rythmol,
Procainamide
• Psychotropics- amitriptyline, lithium,
nortriptyline
• Anesthesia- bupivacaine, propofol
• Tramadol, Benadryl, Reglan
(Postema, et al., 2009)
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Incidence
Most common in people from Asia. In
Asia it is the most common cause of
natural death in men younger than
50. approximately 30:100,000.
It is 8-10x more prevalent in men.
Most commonly affects men between
30-50 who are other-wise healthy.
The mean age of sudden death is 41
years old.
An estimated 4% of sudden deaths
and at least 20% of sudden deaths
in patients with structurally normal
hearts are due to the syndrome.
(Dizon & Zanif,2014)
Plan
Interventions:
The only treatment proven effective
presently is the implantation of an
automatic implantable cardiac
defibrillator (AICD).
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Review of Literature
described as a new clinical entity in 1992
The syndrome may also be unmasked or
precipitated by a febrile state, β-adrenergic
blockers, tricyclic antidepressants, and
hypokalemia, as well as by alcohol and
cocaine toxicity.
In the case of M.E. he first started noticing
his symptoms after consuming alcohol & he
did not have a syncopal episode until he
was placed on Rythmol.
Atrial fibrillation (AF) is reported in
approximately 10%-20% of cases
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Review of Literature
The appearance of a right bundle branch
block (RBBB) morphology in Brugada
patients may be due at least in part to
early repolarization of RV epicardium.
Sudden death usually occur at rest and at
night,
M.E. typically felt his heart racing with
palpitations at night when lying down.
The effectiveness of ICD preventing
sudden cardiac death was 100% in a
recent trial in which 258 patients dx with
Brugada syndrome received an ICD.
(Antzelevitch & Fish, 2006)
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Education
Family should be educated on CPR
There should be s/p AICD insertion
education
The patient should be educated on
medications that should be avoided
They should also make any & all
provider aware of their diagnosis
They should be instructed to avoid
alcohol, caffeine & cocaine
They can also have their family
members tested for the gene as
well.
Follow -up
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Currently he is seen every 3
months by cardiology.
He is seen in the PCP office
every 6 months.
Awaiting the authorization from
insurance for genetic testing to
be done.
Was told to f/u sooner if having
any s/s such as palpitations
that do not subside after 2
hours.
Was told to go straight to the
ER for any syncopal/nearsyncopal episodes or if AICD
fires.
References
Antzelevitch, C. & Fish, J.M. (2006). Therapy for the Brugada
syndrome. Handb Exp Pharmacology (171). 305-330.
Retrieved from
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474239/
Dizon, J.M. & Zanif, T.M. (2014) Brugada Syndrome. Retrieved
from http://emedicine.medscape.com/article/163751overview#aw2aab6b2b3aa
Mayo Clinic. (2011). Disease & conditions: Brugada syndrome.
Retrieved from http://www.mayoclinic.org/diseasesconditions/brugada-syndrome/basics/definition/con20034848
Postema, P.G., Wolpert, C., Amin, A.S., Probst, V., Borggrefe, M.,
Roden, D.M.,…Wilde, A.A. ( 2009). Drugs and Brugada
syndrome patients: review of the literature,
recommendations, and an up-to-date website
(www.brugadadrugs.org). Heart Rhythm 6(9). 1335-41. DIO:
10.1016/j.hrthm.2009.07.002