cardiac amyloid adv hf mtg 2017 (1) · look for amyloid deposition • review ecg for low voltage...
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• It can strike many organs of the body• Heart• Kidney• Also can cause neuropathy in central and autonomic distributions
• In a survey of 443 patients, 220 cardiologists missed the diagnosis• The average pt saw 4 MD’s prior to being diagnosed
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Amyloid
Cardiomyopathy
TTR
transthyretin
AL
(light chain)
Hereditary
Mutant TTR
Sporadic
SSA normal TTR
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Evaluation for AL amyloidosis
Julio Delgado, M.D. University of Utah, Division of Pathology
Echo features
Falk RH, Prog Cardiovasc Dis, 2010
274287
Falk RH, Circulation, 2011
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Falk RH, Circulation, 2011
Cardiac MRI--LGE
Esplin BL, Curr Probl Cardiol, 2013
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Cohen AD, ASH 2010
Survival in AL Amyloid and NT-proBNP
Survival on Transplant List (MGH)
Gilstrap L et al, J Heart Lung Transplant 2014
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ReviewReview
Ask about symptoms and
family history of cardiac disease
(and peripheral neuropathy)
Ask about symptoms and
family history of cardiac disease
(and peripheral neuropathy)
• Do you see interventricular
septal thickness?
• Is there preserved LVEF?
• Consider additional imaging to
look for amyloid deposition
• Do you see interventricular
septal thickness?
• Is there preserved LVEF?
• Consider additional imaging to
look for amyloid deposition
• Review ECG for low voltage
• Review cardiac biomarker levels
• Review ECG for low voltage
• Review cardiac biomarker levels
• Ask about patient history of
carpal tunnel syndrome
• Ask about symptoms of fluid
overload and irregular heart beat
• Ask about patient history of
carpal tunnel syndrome
• Ask about symptoms of fluid
overload and irregular heart beat
YesYes YesYes
EvaluateEvaluate
Evaluate for possible cardiac amyloidosis:
Exclude AL amyloidosis; confirm FAC diagnosis by TTR gene sequencing and biopsy analysis; determine appropriate treatment options.
Offer genetic counseling and recommend screening of family members
Evaluate for possible cardiac amyloidosis:
Exclude AL amyloidosis; confirm FAC diagnosis by TTR gene sequencing and biopsy analysis; determine appropriate treatment options.
Offer genetic counseling and recommend screening of family members
LVEF, left ventricle ejection fraction
• Low QSR voltage
• Pseudoinfarction patterns of Q-wave or T-wave changes
• Conduction abnormalities, including bundle branch block
• Rhythm disturbances, e.g., atrial fibrillation
Ruberg F, et al. Circulation 2012;126:1286–1300;
Dharmarajan K, et al. J Am Geriatr Soc 2012;60:765-774
AV, atrioventricular
Common findings in EGC traces from patients with Val122Ile FAC
Sinus bradycardia with
first-degree AV block, low QRS voltage and
poor precordial R-wave progression
Marked sinus
bradycardia, inferior infarct
(pseudo-infarct)
Atrial fibrillation,
anterolateral and inferior infarcts
(pseudo-infarcts)
Sinus rhythm with marked
first-degree AV block, low QRS voltage and left
bundle branch block
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• 3-D imaging with CMR is more precise and reproducible than 2-D echocardiography, but also more expensive and less widely available
• Late gadolinium enhancement (LGE) imaging used to directly identify amyloid infiltration
FAC: Non-Invasive Imaging
Ruberg F, et al. Circulation 2012;126:1286–1300;
Selvanayagam, JB, et al. J Am Coll Cardiol 2007;50:2101–2110
Subendocardium Diffuse transmural
Subendocardium in lateral wall,
transmurally involving septum
Subendocardial hyper-enhancement of
both ventricles, both atria and interatrial septum
Ring of subendocardial hyper-enhancement (arrows)
• Confirmation of FAC with analysis of cardiac biopsy
• Light microscopy: • Congo Red staining
• Immunohistochemical staining using anti-TTR antibodies
• Electron microscopy: characteristic fibrils
• Mass spectrometry
Ruberg F, et al. Circulation 2012;126:1286–1300
Apple-green
birefringence under polarizing
lightSalmon pink
amyloid deposits
Congo Red staining, light microscopy
Rapezzi, Circulation, 2009
Prognosis
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