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 ID: 778951
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Slide1
Case Study: Brugada’s Syndrome
Presented by: Fran Connolly
Slide2Prime Care PhysiciansPreceptor: 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
Slide3Patient & 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.
Slide4History 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.
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.
Slide5HPI (continued)
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
Slide6HPI (continued)Third visit: 4/29/2013
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.
Slide7HPI (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.
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.
Slide8Past Medical History
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.
Slide9Social History: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:
Mother- DMII
Father- HTN
PGF- deceased @ 52 from MI
P (great) GF – deceased @ 60 from MI
Denies any other family history of cardiac issues
Slide10Review 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.
Slide11Physical FindingsConstitutional: 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 wallResp
: 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 FindingsCV: 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 5
th
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.
Slide13Differential DiagnosisParoxysmal atrial fibrillation (427.31)
Cardiac
dysrhythmia (427.9)
Paroxysmal supraventricular
tachycardia (427.0)
Hyperthyroidism (242.9)
Brugada’s
syndrome (746.89)
Slide14Diagnostic TestsEKG (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.
Slide15Labs
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
Slide16DiagnosisAtrial Fibrillation (427.31)
Brugada’s
Syndrome (746.89)
However awaiting genetic testing to confirm 2
nd
dx.
Slide17Brugada’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
)
Slide18Slide19Brugada’s SyndromeIt is recognized to cause sudden 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)
Slide20Signs & SymptomsSyncope and cardiac arrest: in many 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)
Slide21Pathophysiology
A disease caused by an alteration in the 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)
Slide22Slide23EtiologySCN5A gene mutation
Many drugs can induce the type-1 EKG in
Brugada
syndrome & should be avoided:
Antiarrhythmics
-
Rythmol
, ProcainamidePsychotropics- amitriptyline, lithium, nortriptylineAnesthesia- bupivacaine, propofolTramadol, Benadryl, Reglan
(
Postema
, et al., 2009)
Slide24Incidence
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)
Slide25PlanInterventions:
The only treatment proven effective presently is the implantation of an
automatic implantable cardiac defibrillator
(AICD).
Slide26Review of Literaturedescribed 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
Slide27Review 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)
Slide28Education
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.
Slide29Follow -up
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
/near-syncopal episodes or if AICD fires.
Slide30ReferencesAntzelevitch, 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/163751-overview#aw2aab6b2b3aaMayo Clinic. (2011). Disease & conditions: Brugada syndrome. Retrieved from http://www.mayoclinic.org/diseases-conditions/brugada-syndrome/basics/definition/con-20034848
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