Download Restrictive Cardiomyopathy

Restrictive Cardiomyopathies
Zoll Lecture Series
Author: Jennifer Giuseffi, MD
Series Editor: Eli Gelfand, MD, FACC
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Objectives
• Introduction
• Symptoms
• Causes
– Myocardial
– Endomyocardial
• Diagnosis:
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–
–
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ECG
Echocardiography
invasive hemodynamics
cardiac MRI
• Treatment options
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Introduction
• Least common type of cardiomyopathy
• Increased stiffness of the myocardium  impaired
diastolic filling
• Ventricular volumes are usually normal or reduced
• Wall thickness is normal or mildly increased
• Systolic function is typically preserved
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Symptoms – similar to HF due to other causes
• Volume overload
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–
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Fatigue
Dyspnea
Orthopnea
Noctural dyspnea
• Arrhythmia  palpitations, syncope, exercise
intolerance
– High-grade AV block (sarcoidosis, amyloid > hemochromatosis)
– Atrial tachyarrhythmias, including atrial fibrillation
– Ventricular tachyarrhythmia
• Reduced cardiac output
– Exercise intolerance
– Cognitive difficulties
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Etiologies
• Myocardial causes, including infiltrative disease, are most
common in the US
• Endomyocardial causes,
specifically endomyocardial
fibrosis (EMF) more common
outside of US
– Leading cause of death in Africa,
India, South and Central
America, and Asia
– Unclear primary cause
– Possible association with
eosinophilia or nutritional factors Endomyocardial biopsy of a pt with EMF
http://www.hefssa.org/images/ahfr_big.jpg
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Myocardial Causes
Infiltrative
• Amyloidosis
– Can be primary, secondary, senile, or familial
– Secondary is associated with multiple myeloma
• Cardiac sarcoidosis
•
•
– Rarely isolated  usually in concert with lymphadenopathy,
parenchymal lung disease
– Can present with syncope from ventricular tachycardia or block
– AV conduction abnormalities typically progressive, so low threshold
for pacing +/- ICD
Gaucher's Disease
Fatty infiltration
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Myocardial Causes
Storage Diseases
• Hemochromatosis
– Therapeutic phlebotomy often reverses cardiomyopathy
• Fabry’s Disease
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–
–
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Glycogen Storage Disease
Deficiency of alpha-galactosidase A
Enzyme replacement is available
Testing is free
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Endomyocardial Causes
•
•
•
•
•
•
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Endomyocardial Fibrosis
Hypereosinophilic syndrome
Carcinoid Heart disease
Metastatic cancers
Radiation
Toxic effects of anthracycline
Drugs (serotonin, methysergide,
ergotamine, mercurial agents, busulfan)
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ECG Findings
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•
•
•
Large P waves indicating biatrial enlargement
Conduction delays
Various ST and T segment changes
Ventricular tachycardias
– Especially in sarcoidosis
• In amyloid, classically – low QRS voltage
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Echocardiographic Findings
• Non-dilated, non hypertrophied ventricles
– Unless infiltrative or storage disease
• Moderate to marked biatrial enlargement
• Doppler is required to assess impaired
ventricular filling
– Diastolic transmitral flow velocity
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Four Chamber and Short-Axis Views
Nihoyannopoulos, P. et al. Eur J Echocardiogr 2009 10:iii23-33iii; doi:10.1093/ejechocard/jep156
Amyloid Heart Disease
Marked wall thickness (15 mm) concentrically
Homogeneous texture of both ventricles
Thickening of the mitral and tricuspid leaflets and right ventricle
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M-mode and Parasternal Long-Axis
Nihoyannopoulos, P. et al. Eur J Echocardiogr 2009 10:iii23-33iii; doi:10.1093/ejechocard/jep156
Reduced left ventricular function
Note the markedly thickened RV free wall
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Doppler Findings
• Normal systolic contraction with a rapid but illsustained ventricular filling seen on pulsed-wave
Doppler (E-wave) and with little or no late
ventricular filling (A-wave).
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Top: mitral annular velocities
demonstrating reduced
systolic as well as diastolic
velocities (E' and a')
Bottom: pulsed wave-Doppler
from the mitral valve
demonstrating very high
early diastolic velocity (Ewave), short deceleration
time (<130 ms), low late
diastolic filling (A-wave) of
the transmitral velocity
Nihoyannopoulos, P. et al. Eur J Echocardiogr 2009 10:iii23-33iii; doi:10.1093/ejechocard/jep156
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Cardiac Catheterization
Square-root sign (dip
and plateau)
In diastole, rapid early
diastolic filling (dip),
followed by a plateau
during pressure
tracings
(seen in both restrictive
cardiomyopathy and
constrictive
pericarditis)
From emedicine article Pulmonary Artery Catheterization
http://img.medscape.com/pi/emed/ckb/cardiology/150072-160317-3323.jpg
• Elevated diastolic pressures
– Left ventricular pressures higher than right
• Dependent on preload, can have normalization of pressures if adequately
diuresed
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Cardiac MRI
• High diagnostic accuracy for constrictive
pericarditis, which can present similar to
restrictive cardiomyopathy
– Important to distinguish from restrictive
cardiomyopathy as definitive surgical therapy available
for constrictive pericarditis
• Gold standard for noninvasive diagnosis of cardiac
hemochromatosis
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Constriction vs. Restriction
Constrictive Pericarditis
• Physical Exam: JVP elevated
– Kussmal’s sign: lack of the
expected inspiratory decline in
JVP. Secondary to decreased
compliance of the right
ventricle
– Pericardial Knock
• CXR: Calcifications of the
pericardium can be present
• Echo: Bulging of the septum to the
left. Respiration variation in
filling velocity (inspiration
decreases PCWP  decreases
pressure gradient for ventricular
filling because no effect on
ventricular diastolic pressure)
• Cath: Equalization of pressures
Restrictive Cardiomyopathy
• Physical Exam: JVP elevated
• EKG: Depolarization
abnormalities (such as bundle
branch block), ventricular
hypertrophy, pathologic Q waves,
or impaired AV conduction
• Echo: Normal LV function.
Minimal variation with respiration
of filling velocity (inspiration
decreases PCWP and ventricular
diastolic pressure equally, no
change in pressure gradient)
• Cath: Both show dip and plateau
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Treatments
• Treat underlying disease in secondary causes
• Attempt to maintain sinus rhythm, atrial fibrillation is
poorly tolerated
– Amiodarone
• Treat heart failure symptoms
– Diuretics and ACE inhibitors
– Avoid digitalis, nifedipine, ACE-I and verapamil in Amyloid
• Most are irreversible and require cardiac transplantation,
regardless poor prognosis
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Treatment for Cardiac Amyloid
http://www.pathology.vcu.edu/education/cardio/lab3.g.html
• Usually ineffective and
generally consists of supportive
measures
• Autologous hematopoietic cell
transplantation in conjunction
with melphalan therapy
• Heart transplantation – used only if the patient has
isolated cardiac amyloid
• ICD placement – controversial given most sudden death
is related to electromechanical dissociation not ventricular
arrhythmias
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Treatment for Cardiac Sarcoid
• Goal is to control inflammation and fibrosis
• Glucocorticoids – thought to halt or slow process of
inflammation and fibrosis
– Dose unclear
– Relapses common after taper
• Chloroquine, hydroxychloroquine, cyclosporine, and
methotrexate – can be used for patients that are resistant
to steroids
• ICD placement – 30-65% of deaths in patient’s with
cardiac sarcoid are due to ventricular arrhythmias or
conduction block
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Treatment for Other Causes
• Hemachromatosis
– Treatment with serial phlebotomy
• EMF
– Poor prognosis with medical therapy (HF therapy beta
blockers, diuresis) or prednisone if acute carditis
– Endomyocardial resection with valve replacement or
repair
• Fabry’s – no cure
– Treatment with recombinant a-galactosidase A (alphaGal A), likely require dialysis
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Take Home Points
• Restrictive cardiomyopathy is uncommon,
however mortality is high
• Systolic function is typically preserved
• Many etiologies including both myocardial and
endomyocardial causes
• Echo reveals impaired filling
• Cardiac cath shows ‘square-root sign’
• MRI can be useful in distinguishing from
constrictive pericarditis
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