Cardiac AL Amyloidosis In a 53-year-old Woman - amedi.sk · 2017. 6. 8. · cardiomyopathy(1-3)....
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49 Kardiológia pre prax 1/2017 KAZUISTIKA Cardiac AL Amyloidosis In a 53-year-old Woman Jan Hluchy, Christian Berndt, Olga Jurkovicova Key words: multiple myeloma; left ventricular hypertrophy; restrictive cardiomyopathy; cardiac AL amyloidosis Kľúčové slová: mnohopočetný myelóm; hypertrofia ľavej komory; reštriktívna kardiomyopatia; srdcová AL amyloidóza Kardiol. Prax 2017; 15 (1): 49-51 A 53-year-old woman with a history of well controlled arterial hypertension was referred for dyspnea and bilateral leg oedema. She underwent breast sparing surgery for breast cancer 6 months prior, followed by both radiationtherapy and oral ta- moxifen. Several months before the referral, the therapy with ACE in- hibitors were poorly tolerated and had to be withdrawn becau- se of dizziness and hypotension and intake of low-dose thiazi- de diuretics recommended for leg oedema were also associated with dizziness. A chest X-ray showed pulmonary congestion and an increase in the cardiac silhouette diameter (size) (Figure 1a), as compared to that performed 6 months before (Figure 1b). Echocardiography (Figure 2) showed marked left atrial enlar- gement, concentric left ventricular (LV) hypertrophy (LVH; the LV wall thickeness >15 mm) with preserved LV systolic function and severe diastolic dysfunction with short transmitral deceleration (restrictive pattern of LV filling), features typical of a restrictive cardiomyopathy (1-3) . Interestingly, LVH was diagnosed 6 months prior and was attributed to arterial hypertension. A 12-lead ECG revealed “paradoxical” low QRS voltages in all limb and precordial leads (Figure 3). Self-limiting symptomatic ventricular salvoes were recorded during 24-hour ECG monito- ring. Bloodtestsshowedthefollowing:markedlyelevatedpro-brain natriuretic peptide (BNP) (490 ng/l; normal<56 ng/l), hypoga- maglobulinemia (Figure 4), Bence-Jones proteinuria (lambda light chains) (1.8 g/24 hours) along with bone marrow biopsy confirming the diagnosis of multiple myeloma (plasmocyto- ma). Computed tomography demonstrated disseminated oste- olysis. Since cardiac amyloidosis is associated in over 10% of cases with multiple myeloma, a suspicion of cardiac amyloidosis was considered. Right heart catheterization revealed findings suggestive of restrictive physiology with a pulmonary capillary wedge pressu- re (PCWP) of 22 mmHg and 32 mmHg at rest and during exercise (100 Watt), respectively, stroke volume (SV) of 50 ml and 46 ml at rest and at 100 Watt, respectively. MRT: consistent with storage disease. Upper and lower gastrointestinal tract (GIT) endoscopies in- cluding biopsies showed evidence of AL amyloid associated with erosive antrumgastritis due to amyloidosis and mucosal amyloi- dosis of the rectum. The diagnosis of lambda light chain amyloi- dosis was confirmed by immunohistochemistry (primary amylo- idosis). Interestingly, there was even a macroscopic evidence for amyloidosis of the rectum demonstrated by macroscopic white mucosal islands (Figure 5). Lambda light chains (7400 mg) were found in urine. Taking together, in this case, cardiac AL amyloidosis, as an infiltrative restrictive cardiomyopathy could be diagnosed, caused by generalized lambda light chains amyloid (AL) with multiorgan involvement in plasmocytoma with Bence-Jones Figure 1. A chest X-ray shows pulmonary congestion and mild cardiac enlargement (Figure 1a), as compared to that performed 6 months before (Figure 1b)
Transcript of Cardiac AL Amyloidosis In a 53-year-old Woman - amedi.sk · 2017. 6. 8. · cardiomyopathy(1-3)....
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49Kardiológia pre prax1/2017
KAZUISTIKA
Cardiac AL Amyloidosis In a 53-year-old Woman
Jan Hluchy, Christian Berndt, Olga Jurkovicova
Key words: multiple myeloma; left ventricular hypertrophy; restrictive cardiomyopathy; cardiac AL amyloidosisKľúčové slová: mnohopočetný myelóm; hypertrofia ľavej komory; reštriktívna kardiomyopatia; srdcová AL amyloidóza
Kardiol. Prax 2017; 15 (1): 49-51
A 53-year-old woman with a history of well controlled arterial hypertension was referred for dyspnea and bilateral leg oedema.She underwent breast sparing surgery for breast cancer 6
months prior, followed by both radiationtherapy and oral ta-moxifen.Several months before the referral, the therapy with ACE in-
hibitors were poorly tolerated and had to be withdrawn becau-se of dizziness and hypotension and intake of low-dose thiazi-de diuretics recommended for leg oedema were also associated with dizziness.A chest X-ray showed pulmonary congestion and an increase
in the cardiac silhouette diameter (size) (Figure 1a), as compared to that performed 6 months before (Figure 1b).Echocardiography (Figure 2) showed marked left atrial enlar-
gement, concentric left ventricular (LV) hypertrophy (LVH; the LV wall thickeness >15 mm) with preserved LV systolic function and severe diastolic dysfunction with short transmitral deceleration (restrictive pattern of LV filling), features typical of a restrictive cardiomyopathy(1-3). Interestingly, LVH was diagnosed 6 months prior and was attributed to arterial hypertension.A 12-lead ECG revealed “paradoxical” low QRS voltages in all
limb and precordial leads (Figure 3). Self-limiting symptomatic ventricular salvoes were recorded during 24-hour ECG monito-ring.Blood tests showed the following: markedly elevated pro-brain
natriuretic peptide (BNP) (490 ng/l; normal
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Figure 4. Serum protein electrophoresis revealing hypogamaglobulinemia
proteinuria. Primary AL amyloidosis, in which cardiac invol-vement is common (in 90% of the cases), is caused by depo-sition of fibrils of a single monoclonal immunoglobulin from clonal plasma cells and associated with circulating light cha-ins(1,2). As mentioned above, it may occur in over 10% of pa-tients with multiple myeloma. As a progressive disease with worse prognosis, AL amyloidosis requires early diagnosis for treatment(1,4). In cardiac amyloidosis, apart from endomyo-cardial biopsy, less invasive tissue sampling methods like GIT
Figure 2. Echocardiography. A. Two-dimensional imaging. Left ventricular (LV) hypertrophy with small LV cavity size and marked left atrial enlarge-ment. B. Transmitral Doppler echocardiography. Mitral inflow with large E wave and small A wave, E/A ratio>2 (note that A wave nearly disappe-ared), short deceleration time (DT; 113 ms). C. Tissue-Doppler echocardio-graphy. Very low E’-wave (3.8 cm/s) and very high E/E’ratio (31) suggesti-ve of elevated filling pressures
Figure 3 ECG showing low QRS voltages (
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References:1. Sharma N, Howlett J. Current state of cardiac amyloidosis. Cardiology. 2013;28:242-24242-248.2. Nihoyannopoulos P, Dawson D. Restrictive cardiomyopathies. Eur J Echocar-dio gr 2009;10:iii23–iii33.3. Asher CR, Klein AL. Diastolic Heart Failure: Restrictive cardiomyopathy, con-strictive pericarditis, and cardiac tamponade: clinical and echocardiographic evaluation. Cardiol Rev 2002;10:218-229.4. Kyle RA, Gertz MA. Primary systemic amyloidosis: clinical and laboratory fea-tures in 474 cases. Semin Hematol 1995; 32:45–49.
tionally, fitted waist-high stockings and midodrine may result in the increase of venous return. Importandly, anticoagula-tion (warfarin, marcumar) is indicated. The use of novel anti-
5. Skinner M, Sanchorawala V, Seldin DC, et al. High dose melphalan and autol-ogous stem-cell transplantation in patients with AL amyloidosis: an 8 year study. Ann Intern Med 2004; 140:85–93.6. Dubrey SW, Burke MM, Hawkins PN, et al. Cardiac transplantation for amy-loid heart disease: the United Kingdom experience. J Heart Lung Transplant 2004; 23:1142–53.7. Bonvini P, Zorzi E, Basso G, Rosolen A. Bortezomib-mediated 26S proteas-ome inhibition causes cell-cycle arrest and induces apoptosis in CD-30+ anaplas-tic large cell lymphoma. Leukemia 2007; 21:838–842.
Figure 5. Photograph of the rectum. The amyloid is identified even ma-croscopic as white mucosal islands
coagulants is not recommended(1). The aim of amyloid-specific treatment is to reduce the amount of amyloid. Currently, high-dose melphalan followed by stem cell transplantation in remission in 40% of patients with a median survival improved from 1 year to 5 years. Patients with cardiac involvement de-monstrate a survival increase from 5 months to 1.6 years but many of them do not tolerate this therapy(1,5). Recently, an an-ti-S29 protease, bortezomib now commonly used for amylo-idosis with serum light chains in multiple myeloma has been associated with complete long-term remission(6,7). Apart from the above mentioned therapy for AL amyloidosis in this case, the treatment of underlying process is essential.
Address for correspondence:MUDr. Jan Hluchy, PhD, FESC,Abteilung fur klinische ElectrophysiologieAugusta-Kranken-Anstalten GmbH, Bochum, BRD
Dr.med. Christian BerndtKardiologie und IntensivmedizinFachkrankenhaus Kloster Grafschaft, GmbH, BRD
doc. MUDr. Oľga Jurkovičová, CSc.IV. interná klinika LFUK a UN Bratislavae-mail: [email protected]
