Arrhythmias and Marfan Syndrome Alan C. Braverman, MD

Arrhythmias and Marfan Syndrome
Alan C. Braverman, MD

Cardiovascular System in Marfan Syndrome

Major Criteria:
Cardiovascular Manifestations of the
Marfan Syndrome
• dilatation of the ascending aorta with or without aortic
regurgitation and involving at least the sinuses of Valsalva; or
• dissection of the ascending aorta

Minor Criteria:
Cardiovascular Manifestations
• mitral valve prolapse with or without mitral valve regurgitation
• dilatation of the main pulmonary artery in the absence of valvular
or peripheral pulmonic stenosis or any other obvious cause,
below the age of 40 years
• calcification of the mitral annulus below the age of 40 years; or
• dilatation or dissection of the descending thoracic or abdominal
aorta before the age of 50 years.
For the cardiovascular system to be involved a major criterion or
only 1 of the minor criteria must be present.

Cardiac Arrhythmias

Normal Electrocardiogram

Common Cardiac Arrhythmias
1. Premature beats (PAC’s, PVC’s)
2. Atrial arrhythmias
1. Supraventricular tachycardia (SVT)
2. Atrial fibrillation
3. Atrial flutter
4. WPW
3. Ventricular arrhythmias
1. Ventricular tachycardia
2. Ventricular fibrillation
4. Long QT syndromes
5. Bradyarrhythmias

• Pulse monitoring
Methods to Evaluate for Arrhythmias
• Electrocardiogram
• 24 Hour Ambulatory ECG-Monitor (Holter)
• Event Recorder (event, loop, implantable)
• Electrophysiology Study

Why Might a Person with Marfan Syndrome
Develop an Arrhythmia?
1. Unrelated to Marfan Syndrome
Arrhythmia with a Normal Heart
• caffeine, alcohol, stress, anxiety, lack of sleep, stimulants
• Electrolyte abnormalities (low K + , low Mg ++ )
Arrhythmia with Underlying Heart Disease
• HTN, CAD, Cardiomyopathy, CHF
• Conduction disease
• Valvular heart disease

Why Might a Person with Marfan Syndrome
Develop an Arrhythmia?
2. Related to Marfan Syndrome
Valvular Heart Disease
• Mitral valve prolapse
• Mitral regurgitation
• Aortic insufficiency
Post-operative Arrhythmias
Cardiomyopathy/CHF

PVC’s
1. Premature Contractions
Types of Arrhythmias
1. “premature beats, skipped beats, missed beats, early beats”
2. The heart is prematurely electrically stimulated interrupting the
normal conduction pattern
PAC’s
Symptoms: Palpitations, strong beat, fullness in neck, sense of the
heart stopping, missed beat or pause

• Precipitants
Premature Contractions
Caffeine, alcohol
Lack of sleep
Anxiety, stress
Stimulants
• Treatment
Underlying Heart Disease
Evaluate for underlying cause or heart disease
Remove or treat precipitants
Reassurance
Beta-Blocker

Supraventricular Tachycardia (SVT)
Rapid, regular tachycardia with heart rate 150-225 bpm
Most common: AV nodal reentry tachycardia
Symptoms: palpitations, heart racing, lightheadedness, SOB, chest
pain
Mechanism: Premature beat
Leads to reentry circuit in AV node

Supraventricular Tachycardia
May occur in a normal heart or with underlying heart disease
More common in mitral valve prolapse
• Evaluation:
• Treatment:
Examine heart function (echocardiogram)
Search for precipitants
Vagal maneuvers
Drug therapy (Beta-blockers, Calcium channel blockers, digoxin)
EPS-guided treatment (RF modification of AV node)
95% cure rate

Atrial Fibrillation
• Rapid, irregular fibrillatory waves in the atria which
leads to an irregular, chaotic heart rhythm
• Usually precipitated by underlying cardiac disease or
noncardiac disease
Electrical mechanism:
Multiple, small reentrant circuits constantly arising in the atria
Rapidly firing focus (foci) located near the pulmonary veins

Atrial Fibrillation
• Incidence is Age-dependent
Doubles with each decade of adult life
2-3/1000 population per year age 55-64
35/1000 population per year age 85-94
• Results in loss of atrial contribution to ventricular filling
May decrease cardiac performance by 10-30%
• Clinical: Asymptomatic Severe symptoms
palpitations: fluttering, racing, chaotic heart action
fatigue, SOB, chest pain, embolism, stroke

• Etiology:
• Evaluation:
Atrial Fibrillation
1. Underlying heart disease (HTN, CAD, Valvular heart
disease, Cardiomyopathy, CHF, post-operative)
2. Systemic disease (Pulmonary disease, pneumonia)
3. Hyperthyroidism, electrolyte abnormalities
4. Alcohol excess
1. Treat underlying etiology
2. Echocardiogram, Thyroid tests, Other cardiac testing

Risks of Atrial Fibrillation:
Atrial Fibrillation
1. Increased HR: May lead to heart muscle weakness; angina
2. Systemic Embolism: Abnormal atrial contraction leads to
stasis of blood and blood clotting

Treatment:
Atrial Fibrillation
1. Control heart rate (beta-blocker, calcium channel
blocker, digoxin)
2. Anticoagulate with warfarin (ASA in selected
patients)
3. Cardioversion
4. Anti-arrhythmic drug therapy
propafenone, sotalol, flecainide, amiodarone
5. EPS-guided therapy
Pulmonary vein isolation, RF ablation, pacemaker
6. Surgical therapy
Cox-Maze procedure, PV isolation

Ventricular Arrhythmias
Premature Ventricular Contractions
(PVC’s, VPC’s,)
• common
• may occur in a normal heart or with heart disease
• symptoms of “skipped beat” or “missed beat”
• Evaluate for underlying heart disease or precipitant
• When assoc. with a normal heart, generally benign
• Occasionally treated with beta-blocker

Ventricular Tachycardia
• HR > 100 (usually 150-250 bpm)
• Sx: palpitation, SOB, CP, syncope
• May lead to sudden death
Etiology: Underlying Heart Disease (CAD, MI, CHF/CMP)
Rarely related to MVP; Long QT syndromes
Treatment: Drug Rx: beta-blocker/anti-arrhythmic drugs
AICD
RF ablation

Other Arrhythmias
1. Wolff-Parkinson-White Syndrome (WPW)
Accessory bypass tract leads to reentrant arrhythmias
Treated by EPS-guided RF ablation of bypass tract
2. Long QT syndromes
Abnormalities of depolarization and repolarization.
Torsades de Pointes
Causes: drugs (anti-arrhythmic, psychotropic), metabolic, Other
3. Bradycardia/Bradyarrhythmias
Slow heart rate, conduction disease, heart block
May be secondary to medications, underlying conduction disease,
May occur after heart surgery
Treatment may require pacemaker

Mitral Valve Prolapse and Arrhythmias
1. MVP occurs in 3-5% of general population
2. MVP occurs in >60% of people with the
Marfan syndrome
3. Vast majority of people with MVP are
asymptomatic

• Click and Murmur
“Mitral Valve Prolapse Syndrome”
• Non-Specific Symptoms:
Fatigue
Palpitations
Postural orthostasis
Neuropsychiatric symptoms
Autonomic dysfunction
Chest pains
• How and whether these symptoms are related to MVP is not clear.
• Possibly related to autonomic nervous system dysfunction?

Mitral Valve Prolapse and Arrhythmia
1. Spectrum of arrhythmias have been observed in pts with MVP
PAC’s, PVC’s, WPW, SVT, Ventricular arrhythmias
Can be related to associated cardiac dysfunction: (MR, LAE, LVE)
2. Mechanism of arrhythmia unclear:
Related to mechanical stretch on mitral valve?
Related to underlying cardiomyopathy?
Related to autonomic dysfunction?
3. MVP and Sudden Death
Very rare complication of MVP
Associated with: Severe MR, Severe Valvular deformity, LV
enlargement and dysfunction, Complex ventricular arrhythmia,
Long QT, Abnormal EKG (inferior ST-T), syncope

Cardiac Arrhythmias in the Marfan Syndrome
Very few studies
Yetman et al. Long-Term Outcome in Patients with MFS: Is Aortic
Dissection the Only Cause of Sudden Death. JACC 2003;41:329-332
70 pts with MFS
Birth—52 yrs at entry. Mean age 10 yrs at diagnosis
Median age at follow-up 17 yrs; Median f/u duration 6 yrs
All pts underwent semi-annual Echocardiogram; yearly EKG
and Initial 24-hour ambulatory ECG monitor (Holter)
Findings:
1. Abnormal EKG common (11% with long QT)
2. Abnormal Echo common (38% with cardiac enlargement; 11%
with depressed ejection fraction)

Cardiac Arrhythmias in the Marfan Syndrome
Yetman et al. Long-Term Outcome in Patients with MFS: Is Aortic
Dissection the Only Cause of Sudden Death. JACC 2003;41:329-332
Results of Ambulatory ECG-monitoring
1. Ventricular arrhythmias common (21%)
2. Non-sustained ventricular tachycardia in 6% pts
3 Sudden Deaths in this Study
Related to Complex ventricular arrhythmia, Cardiac
enlargement, MR, long QT
Clinical implications:
Significant cardiac arrhythmias may occur in Marfan
syndrome. Related to underlying LV dysfunction,
MVP/MR.

Arrhythmias and Marfan Syndrome
Conclusions:
• Arrhythmias may occur in people with the Marfan syndrome
• Most arrhythmias are benign (extra beats)
• Limit caffeine intake, lessen stress, get plenty of rest
• Beta-blockers may lessen symptoms of arrhythmia
• Symptoms of concern: syncope, shortness of breath, sustained
palpitation.
• Arrhythmias may be very significant, especially when
associated with abnormal heart function.
• Certain arrhythmias require treatment with medications and/or
devices (pacemaker/AICD)

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