A CHANGE OF HEART: PROGRESSIVE EDEMA IN AN ELDERLY MAN
Meghan Gilroy, MD and Jeffrey Southard, MD
University of California, Davis Medical Center, Sacramento, CA
A
A
• The systemic amyloidoses are a rare group of
diseases caused by diffuse extracellular deposition of
proteinacious material
• Amyloid light-chain amyloidosis is characterized by
multiorgan involvement
• Cardiac involvement carries a poor prognosis
B
A 77 year-old man with a significant cardiac history
presented to his cardiologist with new-onset lower
extremity edema. Despite oral diuresis, edema
progressed to anasarca and the patient was admitted for
IV diuresis.
ROS: edema, orthopnea, fatigue, jaw claudication, neck
pain, difficulty elevating his head
B
Figure 1. Echocardiographic images from our patient
demonstrating hypergranularity of myocardium. (A)
Parasternal long axis view showing left atrial
enlargement. (B) Apical four-chamber view showing
biatrial enlargement.
Figure 2. Echocardiographic m-mode data from our
patient demonstrating (A) reduced E/A indicating
diastolic dysfunction and (B) septal tissue doppler
with low amplitude E’ wave suggesting restriction.
A
PMH: CAD s/p CABG, paroxysmal atrial dysrhythmia,
diastolic heart failure, hypertension, hypothyroidism,
CKD, anemia
PE: JVP 9cm, irregularly irregular heart rhythm,
decreased breath sounds at bilateral lung bases, severe
pitting edema of the lower extremities and scrotum
Laboratory:
Cr
2.03 mg/dL Hgb
10.1 g/dL
BNP 2122 pg/mL Troponin <0.01
Imaging:
CXR: pulmonary edema, R pleural effusion
Echo: elevated PA pressure, biatrial enlargement,
LVH, E/A 1.2 (Figures 1 & 2)
Cardiac cath: elevated RA pressure, elevated RV
EDP (Figure 3)
Tissue:
Endomyocardial biopsy: Congo Red- postive, birefringent
Mass spectrometry: kappa-type amyloid
Bone marrow biopsy: plasma cell dyscrasia
B
Figure 3. Right sided cardiac catheterization from our patient showing (A) elevated right
atrial pressure and (B) elevated right ventricular end-diastolic pressure with “square
root sign” suggesting restrictive physiology.
A
B
Cardiac catheterization was performed which suggested
restrictive cardiomyopathy. Endomyocardial biopsy stained
positive for amyloid. Bone marrow biopsy suggested light-chain
amyloidosis. Despite diuresis, the patient remained fluid
overloaded and renal failure progressed. As light-chain subtype
was not confirmed until later in clinical course, the patient was
not treated for amyloidosis. While in the hospital he developed
wide complex tachycardia, which led to cardiac arrest. Autopsy
revealed marked cardiomegaly (720gm) with biventricular
hypertrophy. Histology showed amyloid deposition in the heart,
kidneys, thyroid, temporal artery, and strap muscles of the
neck.
AL amyloidosis is a rare plasma cell dyscrasia in which
monoclonal immunoglobulin light chains form amyloid
precursors; incidence is 8.9 cases per million person-years1.
Cardiac involvement is present in approximately 60% of
patients and can cause ventricular hypertrophy, pericardial and
pleural effusions, granular-appearing myocardium on
echocardiography, and low-voltage EKG1,2,4. Once heart failure
develops, median survival is less than six months3. Early
diagnosis and treatment is paramount for reversal of organ
damage1. Treatment options include melphalan, dexamethasone, stem cell transplant, and heart transplant2,3.
Endomyocardial biopsy proved amyloidosis as the etiology for
heart failure in our patient. Autopsy suggested extensive
systemic involvement (Figure 4).
Amyloidosis is an important component of the differential for
heart failure when the etiology is uncertain, particularly in the
setting of multiorgan dysfunction.
C
D
Figure 4. Photomicrographs from our patient’s autopsy including (A) cardiac tissue
stained with Congo Red; (B) cardiac tissue under polarized light; (C) kidney tissue
stained with Congo Red; (D) kidney tissue under polarized light.
1. Merlini G, Seldin DC, Gertz MA. Amyloidosis: pathogenesis and new therapeutic options. J Clin Onc
2011;29(14):1924-33.
2. Kapoor P, Thenappan T, Singh E, Kumar S, Geipp PR. Cardiac amyloidosis: a practical approach to diagnosis and
management. Am J Med 2011;124:1006-15.
3. Cohen AD and Comenzo RL. Systemic light-chain amyloidosis: advances in diagnosis, prognosis, and therapy.
Hematology Am Soc Hematol Educ Program 2010;2010:287-94.
4. Apridonidze T, Steingart RM, Comenzo RL, Hoffman J, Goldsmith Y, Bella JN, Landau H, Liu JE. Clinical and
echocardiographic correlates of elevated troponin in amyloid light-chain cardiac amyloidosis. Am J Cardiol
2012 Jul 5 [Epub ahead of print].
ACKNOWLEDGEMENT: We would like to thank Christina DiLoreto of the UCDMC pathology department for her
asistance with tissue photomicrographs.