Hereditary amyloidosis

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  • 1. DonDont misst miss..the rare is still therethe rare is still thereDr. AhmedDr. Ahmed TahaTaha HusseinHusseinM.Sc.cardiologyM.Sc.cardiologyAssistant lecturer cardiologyAssistant lecturer cardiologyZagazigZagazig university, EGYPTuniversity, EGYPT

2. historyhistory Male pt. 23 years old with irrelevantMale pt. 23 years old with irrelevantmedical or family history .medical or family history . Developed chronic slowly progressiveDeveloped chronic slowly progressivedyspneadyspnea 3 years ago ( NYHA class II )3 years ago ( NYHA class II )with mild fatigability.with mild fatigability. He later on complaint of chest pain ofHe later on complaint of chest pain oftypical ischemic character in the past fewtypical ischemic character in the past fewweeks .weeks . 3. General examinationGeneral examination Pulse: 100Pulse: 100 bpmbpm , regular intact peripheral, regular intact peripheralpulsation , no radiopulsation , no radio--femoral delay.femoral delay. B.P: 100/80B.P: 100/80 Generally : normal built , normal appearanceGenerally : normal built , normal appearance No color changes of the skin or sclera.No color changes of the skin or sclera. H&N: noH&N: no lymphadenopathylymphadenopathy , no lumps., no lumps. Skin : no rashes or other significant lesionsSkin : no rashes or other significant lesions L.L: symmetric andL.L: symmetric and warm,nowarm,no oedemaoedema .no.nonumbness ornumbness or parasthesiaparasthesia.. 4. Local exam.Local exam. Chest : good air entry bilateral , no audibleChest : good air entry bilateral , no audiblewheaseswheases oror crepitationscrepitations.. Abdomen : mildAbdomen : mild splenomegallysplenomegally.. PrecordialPrecordial : apex at normal site ,: apex at normal site ,hyperdynamichyperdynamic ,, localisedlocalised , no special, no specialpulsations or thrill .pulsations or thrill . Auscultation : prominent S1 , P2 , clear S4Auscultation : prominent S1 , P2 , clear S4, grade I, grade I--IIII pansystolicpansystolic murmermurmer over theover theapex , mid lower leftapex , mid lower left sternalsternal border.border. 5. mitralizationmitralization of Lt borderof Lt borderwithin normal CTR.within normal CTR.NormalNormal BVMsBVMs.. 6. Sinus rhythmSinus rhythmIncomplete RBBB , RAXIncomplete RBBB , RAXPP--RAERAE 7. LABLAB CBC:CBC: HbHb=14.5 g/dl ,=14.5 g/dl , pltplt=170 /=170 /cmmcmm ,,WBCsWBCs=6300 /=6300 /cmmcmm (relative(relative eosinophiliaeosinophilia21%).21%). LFTsLFTs ,, RFTsRFTs are all normal .are all normal . ESR : 1ESR : 1ststH : 20 , 2H : 20 , 2ndndH : 50 .H : 50 . Urine : traces of protein.Urine : traces of protein. 8. EchocardiographyEchocardiography2D2D viewsviews 9. MM--modemode 10. LA : 43 mmAo : 25 mmAoE: 17 mm 11. RV DIAM d : 11.6 mmIVS dia : 22.6 mmLVD dia : 38.8 mmPW dia : 21.3 mmIVS sys : 26.5 mmLVD sys : 25.9 mmPW sys : 25.9 mmEF : 63 %FRACT SH : 33 %SEP THICK : 17 %PW THICK : 21 %LV MASS : 516 g 12. Doppler studyDoppler study 13. MVE=95 cmMVA=42cmE/A =2.22222IVRT=87 ms 14. E=0.62 cmE/E=16 15. Vmax=1 m/smaxSPG=4 mmHg 16. DiagnosisDiagnosisInfiltrative!!Systemic or local?Infiltrative orHypertrophic?Diastolic HFRestrictive HDJournal of the American Society of EchocardiographyFebruary 2009 17. Diagnostic approachDiagnostic approach 18. Specific investigationsSpecific investigations Serum electrophoresisSerum electrophoresis ::--veve forfor monocloalmonocloalgammopathygammopathy Biopsy for specialBiopsy for specialstaining (staining (congocongo red):red): abdominal fat aspirateabdominal fat aspirate ::--veve Multiple ColonicMultiple Colonicendoscope biopsiesendoscope biopsies ::--veve 19. Definitive DiagnosisDefinitive DiagnosisTTRTTR--CMCMFamilial hereditaryFamilial hereditaryAmyloidosisAmyloidosistransthyretintransthyretin amyloidosisamyloidosisrelatedrelatedCardiomyopathyCardiomyopathy 20. ReviewReviewofofliteraturesliteratures 21. transthyretintransthyretin amyloidosisamyloidosis types :types :1.1. neuropathicneuropathic form .(form .(swedishswedish form)form)2.2. leptomeningealleptomeningeal form.(spanishform.(spanish form)form)3.3. Cardiac form. (African ancestry)Cardiac form. (African ancestry) 22. ComparisonComparison ALAL--amyloidosisamyloidosis ECG: low voltage , AF ,ECG: low voltage , AF ,VtachVtach.. clinical : severe patternclinical : severe patternof HF related to wallof HF related to wallthickness.thickness. 9mTc9mTc--DPDDPD scintigraphyscintigraphy::no uptakeno uptake Prognosis : worse relatedPrognosis : worse relatedto MM. TttTtt: chemotherapy: chemotherapy TCCTCC--CMCM Normal :normal voltage ,Normal :normal voltage ,marked axis deviation ,marked axis deviation ,BBB, AFBBB, AF Clinical : much less heartClinical : much less heartfailure .failure . Uptake .Uptake . Prognosis :better long termPrognosis :better long termsurvival.survival. TttTtt: liver transplantation: liver transplantation 23. GenotypeGenotype -- phenotypephenotype The TTCThe TTC--CM isCM is AutosomalAutosomal DominantDominant Screening of the family byScreening of the family byechocardiography : both parents areechocardiography : both parents arenormal .???normal .??? Rarely, cases result from new mutations inRarely, cases result from new mutations inthe gene and occur in people with nothe gene and occur in people with nohistory of the disorder in their family.history of the disorder in their family. 24. New treatment modalityNew treatment modality 25. The patient data must be integrated to reachThe patient data must be integrated to reachdiagnosis.diagnosis. Tissue DopplerTissue Doppler provide strong evidence inprovide strong evidence inheart muscle disease.heart muscle disease. AmyloidosisAmyloidosis is a disease of pathology ,must beis a disease of pathology ,must beconfirmed by biopsy with special stain.confirmed by biopsy with special stain. TTC is very rare disease, but still exist .TTC is very rare disease, but still exist . NonNon--invasiveinvasive scintigraphyscintigraphy can be a tool tocan be a tool todifferentiate between the 2 types .differentiate between the 2 types . 26. Thank youThank you