Case Study: Brugada’s Syndrome

Presented by: Fran Connolly

Prime 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

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.

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.

• 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)

• 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• 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.

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.

Past 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.

Social 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

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 FindingsConstitutional: BP106/72, HR 68, RR 16,

98% Ht: 6’5” Wt: 212 lbs

BMI: 26General: 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 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• Paroxysmal atrial fibrillation

(427.31)

• Cardiac dysrhythmia (427.9)

• Paroxysmal supraventricular tachycardia (427.0)

• Hyperthyroidism (242.9)

• Brugada’s syndrome (746.89)

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• 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.

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

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 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 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)

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)

PlanInterventions:

• The only treatment proven effective presently is the implantation of an automatic implantable cardiac defibrillator (AICD).

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

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)

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• 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.

ReferencesAntzelevitch, 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#aw2aab6b2b3aa

Mayo 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