Page 1. Typical presentation. Unexpected Clinical Presentation of Cardiac Amyloidosis. Typical presentation. Typical presentation
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1 Unexpected Clinical Presentation of Cardiac Amyloidosis Typical presentation Sx assoicated with Lt sided HF and/or Rt sided HF Dae-Won Sohn, M.D., Ph.D., FACC, FASE Department of Internal Medicine, Seoul National University College of Medicine Increased LV wall thickness Hemodynamics: restrictive LV filling pattern Typical presentation Typical presentation Hemato-oncologist Nephrologist Cardiologist 55 YO female with chest pain 55 YO female with chest pain May 2006 : Chest pain exertional, radiating to both ears Jun 2006 : CT coronary and SPECT : N Dec 2006 : Chest pain recurred, occ resting chest pain Mild dyspnea Echo Page 1
2 55 YO female with chest pain May 2006 : Chest pain exertional, radiating to both ears Jun 2006 : CT coronary and SPECT : N Dec 2006 : Chest pain, recently occ resting chest pain Dyspnea Echo : N Oct 2007 : Chest pain persisted CAG : normal Nov 2007 : Cough pl effusion Echo 55 YO female with chest pain Free light chain assay: serum κ/λ = 14.4/296.0 Endomyocardial Bx: c/w amyloidosis 63 YO male with resting chest pain 63 YO male with resting chest pain Unstable angina CAG Normal LV wall motion, 50% stenosis on prox LAD CCU care Symptom subsided Discharged 6 mon later, chest pain recurred 2009 : Incidentally detected monoclonal gammopathy in the general examination 2010 : Palpitation, mild chest discomfort Page 2
3 2009 : Incidentally detected monoclonal gammopathy in the general examination 2010 : Palpitation, mild chest discomfort 2012 Jul: Admitted elsewhere d/t dyspnea Endomyocardial Bx : negative Paroxysmal AF demonstrated: Diltiazem SR 90mg bid : Incidentally detected monoclonal gammopathy in the general examination 2010 : Palpitation, mild chest discomfort 2012 Jul : Admitted elsewhere d/t dyspnea 2012 Oct : Visited ER d/t dizzy spell 56 YO female : Loss of appetite. dysphagia : Syncope 화장실가던중 TMT : Negative Headup Tilt : Negative Holter : Page 3
4 56 YO female Predominent Rhythm : Sinus - Total beats: Min HR: 55 bpm - Average HR: 72 bpm - Max HR: 87 bpm - Max RR: 1.92 sec 56 YO female 56 YO female 56 YO female One day before discharge, at ward.near syncope CMR & EM bx : c/w cardiac amyloidosis Related to CC:? Autonomic dysfunction & orthostatic hypotension 60 YO male with pl effusion, L/E edema 60 YO male with pl effusion, L/E edema Proteinuria BM: c/w multiple myeloma Serum IEP: r/o monoclonal gammopathy, lamda type Page 4
5 50 YO female with L/E edema 50 YO female with L/E edema 50 YO female with L/E edema 50 YO female with L/E edema 3 yrs later: L/E edema subsided 2 yrs later : dyspnea Transient constriction 50 YO female with L/E edema 71 YO male with vomiting and chest pain 2 yrs later : dyspnea 2008 : Dyspnea Dx as CHF elsewhere : Admitted elsewhere d/t CHF : Vomitting and chest pain Endomyocardial Bx: Amyloidosis Page 5
6 71 YO male with vomiting and chest pain 71 YO male with vomiting and chest pain 71 YO male with vomiting and chest pain 71 YO male with vomiting and chest pain κ/λ 25/254 mg/l IFE : Monoclonal gammopathy, λ type IEF : Monoclonal gammopathy (-) EM bx : c/w cardiac amyloidosis 71 YO male with vomiting and chest pain 65 YO female with dysphagia Related to CC: Vomitting and chest pain 2012 : Tingling sensation both extremity 2013 : Dysphagia : Dyspnea and cough Page 6
7 65 YO female with dyspnea 65 YO female with dyspnea Endomyocardial Bx : c/w cardiac amyloidosis κ/λ : 1156/1.3 mg/l PEP : monoclonal gammopathy (+) 65 YO female with dyspnea 2012 : Tingling sensation both extremity 2013 : Dysphagia 65 YO female with dyspnea EGD done elsewhere : Dyspnea and cough Esophageal manometry : c/w achalasia 62 YO male with chest discomfort : Dx as cardiac amyloidosis elsewhere : Proteinuria detected at general exam Visited SNUH 62 YO male with chest discomfort Monoclonal gammopathy (+) BM bx: c/w plasma cell myeloma EM bx: c/w amyloidosis λ type Page 7
8 62 YO male with chest discomfort : VTD # 1 started : Severe L/E edema 71 YO female Dx as HFrEF : HT - Echo EF 43% : DOE - EF 34% 71 YO female Dx as HFrEF 71 YO female Dx as HFrEF Free light chain: κ/λ 10/123 PEP, IEP, IFE (-) BM bx: c/w plasma cell myeloma : Chemotherapy with Lenalido/Dexa Lenalido/Dexa # 2 azotemia, upper and low ext pallor 71 YO female Dx as HFrEF 71 YO female Dx as HFrEF Page 8
9 68 YO normotensive female with dyspnea 68 YO normotensive female with dyspnea Monoclonal gammopathy (-) both in free light chain assay and IFE : AL amyloidosis 68 YO normotensive female with dyspnea 77 YO male with dyspnea H&E Congo red Amyloid P Kappa Lamda Transthyretin ATTR amyloidosis 77 YO male with dyspnea 77 YO male with dyspnea 99m Tc-DPD scintigraphy in ATTR amyloidosis Page 9
10 77 YO male with dyspnea Take home messages In addition to the typical presentations of Sx s of HF, pt may be presented with unexpected Sx s as well Chest pain Constriction Atrial arrhythmia tachy or asystole Dysphasia Sx ass with thromboembolism Even if possibility of AL amyloidosis is excluded, possibility of cardiac ATTR or AA amyloidosis should also be considered. Page 10
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