This document describes the case of a 56-year-old male patient with exertional dyspnea, fatigue, weakness, and edema over several months. Tests showed abnormal echocardiogram and ECG findings suggestive of cardiac amyloidosis. Cardiac amyloidosis can cause thickening of the heart walls and valves and diastolic dysfunction. Treatment involves managing heart failure symptoms and targeting the underlying cause, such as chemotherapy for light chain amyloidosis or newer therapies for transthyretin amyloidosis. Early diagnosis and referral to a center of expertise can allow for timely treatment of cardiac amyloidosis.

1. CARDIAC
AMYLOIDOSIS
DR. RIFAAT ABDULRAHMAN ALDAGHIR
M.B.Ch.B., C.A.B.M., Echo.D.

2. MAY/2013
• EXERTIONAL DYSPNEA
• Fatigue and weakness
JUNE /2013
• CORONARY ANGIOGRAPHY/add Lisnopril+digoxine
• MORE DYSPNEA AND EDEMA
JULY/2013
• SEVERE ACTIVITY RESTRICTION BECAUSE OF DYSPNEA
• LED EDEMA
• PROTEINURIA
56 y. male with exertional syncopy for the past 3 months.

3. • BP80/50mmHg.
ECG=AF+low voltage in the
limbs leads, with ST-T
changes in the chest leads.
• Trop-T= positive.
• NTproBNP=not done.
A large tongue (ie, macroglossia) or
lateral scalloping of the tongue from
impingement on the teeth is
characteristic of AL amyloid, as is
periorbital purpura

10. ECHOCARDIOGRAPHIC FEATURES
1) symmetric increased LV and RV wall
thickness.
2) diffuse valvular thickening.
3) Diffuse interatrial septum thickening.
4) biatrial enlargement.
5) A small pericardial effusion.
6) Diastolic dysfunction.
7) a specific pattern of longitudinal
strain : worse longitudinal strain in
the mid and basal ventricle with
relative sparing of the apex.

11. Echocardiographic Prognostic Determinants in
Amyloidosis
• Left ventricular wall thickness 15 mm
• Right ventricular wall thickness >7 mm
• Mitral inflow deceleration time 150 msec
• Left ventricular systolic dysfunction
• Right ventricular enlargement
• Abnormal Tei index* >0.77
• Absolute two-dimensional global longitudinal strain <11.78%
*Tei index or myocardial performance index¼the sum of isovolumic contraction time and isovolumic relaxation time divided by the ejection time.
ASE’S COMPREHENSIVE ECHOCARDIOGRAPHY. SECOND EDITION ,2016

12. Variable HR 95% CI P*
cTnT ≥ 0.035 μg/L 2.38 1.81 to 3.12 < .0001
NT-proBNP ≥ 332 pg/L 2.05 1.56 to 2.71 < .0001
cTnI ≥ 0.1 μg/L 1.74 1.33 to 2.28 < .0001
LVEF ≤ 50% 1.80 1.35 to 2.39 < .0001
Using the cTnT+NT-proBNP model stages I, II, and III =median survivals 26.4, 10.5,
and 3.5 months, respectively.
Angela Dispenzieri, Serum Cardiac Troponins and N-Terminal Pro-Brain Natriuretic Peptide: A Staging System for Primary
Systemic Amyloidosis.Journal of Clinical Oncology 2004 22:18, 3751-3757

13. Serum and urine electrophoresis
immunofixation (IFE)
Serum free light chain
(FLC) κ/λ ratio
Bone marrow aspiration and biopsy
Rectal biopsy
AL
amyloidosis

14. • inhibits the formation of light chain amyloid fibrils in vivo and ex
vivo in a dose-dependent manner, and prevented light chain
amyloid deposition in a mouse model of AL . In a retrospective
cohort study of 103 patients with AL-CA, 24-month survival
improved from 40% to 82% by administering doxycycline along with
chemotherapy whereas cardiac response to therapy improved 3-
fold to 60%.
Doxycycline
Bortezomib-based antimyeloma regimens
Autologous stem cell transplantation
(ASCT)

18. HISTORY OF :
1) LVH OR HFpEF first diagnosed after the age of 50-60 years
without hx of hypertension; or with hx of carpal tunnel
syndrome or spinal stenosis.
2) Intolerance to b-blockers or ACE inhibitors.
3) Hx of neuropathy.
4) Family hx of Amyloidosis.

19. Signs :
1) Hypotension or orthostatic hypotension.
2) Macroglosia or lateral scalloping of the tongue from
impingement on the teeth is characteristic of AL amyloid.
3) Periorbital purpura.
4) Peripheral or autonomic neuropathy.

20. Investigations
1. Low voltage ECG (AL) or disproportional voltage to mass ratio.
2. Proteinuria.
3. New low flow low low gradient aortic stenosis in elderly.
4. Thickened valves , RV free wall ,and interatrial septum.
5. High E/A ratio with normal deceleration time.

22. • Supportive therapy for heart failure is usually limited to diuretics.
• Beta-blockers, ACE-inhibitors, and angiotensin receptor blockers are
poorly tolerated in cardiac AL and should be avoided.
• Note that digitalis, calcium channel blockers, and beta blockers are
relatively contraindicated as they can interact with amyloid fibrils and
produce heart block and worsening heart failure.
• Anticoagulation in patients with atrial fibrillation and even in patients
with normal sinus rhythm and poor atrial function is important due to
the high risk of thromboembolic complications. A combination of loop
diuretics and an aldosterone antagonist is most effective
Zhang KW, Stockerl-Goldstein KE, Lenihan DJ. Emerging Therapeutics for the Treatment of
Light Chain and Transthyretin Amyloidosis. JACC Basic Transl Sci. 2019;4(3):438–448.
Published 2019 Jun 24.

23. Cardiac amyloidosis (CA), once thought to be a rare
disease, is increasingly recognized due to enhanced
clinical awareness and better diagnostic imaging. CA is
becoming of heightened interest to the cardiology community
given more effective treatment strategies for light
chain amyloidosis (AL), as well as emerging therapies for
transthyretin amyloidosis (ATTR). Furthermore, reversing
amyloid deposition in affected organs using monoclonal
antibodies is actively being tested in clinical trials. A high
index of suspicion and a systematic approach to the diagnosis
of CA can lead to referral to a center of expertise for
timely treatment.