This document discusses the case of a 23-year-old male patient who presented with dyspnea and chest pain. After extensive testing and examination, he was diagnosed with transthyretin cardiac amyloidosis (TTR-CM), a rare hereditary form of amyloidosis. The document compares TTR-CM to other types of amyloidosis and discusses the patient's family history, treatment options, and prognosis. Tissue Doppler imaging and biopsy were important for confirming the diagnosis. While rare, this case demonstrates that TTR-CM can still occur and requires an integrated approach to diagnose.

1. DonDon’’t misst miss……..
the rare is still therethe rare is still there
Dr. AhmedDr. Ahmed TahaTaha HusseinHussein
M.Sc.cardiologyM.Sc.cardiology
Assistant lecturer cardiologyAssistant lecturer cardiology
ZagazigZagazig university, EGYPTuniversity, EGYPT

2. historyhistory
 Male pt. 23 years old with irrelevantMale pt. 23 years old with irrelevant
medical or family history .medical or family history .
 Developed chronic slowly progressiveDeveloped chronic slowly progressive
dyspneadyspnea 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 of
typical ischemic character in the past fewtypical ischemic character in the past few
weeks .weeks .

3. General examinationGeneral examination
 Pulse: 100Pulse: 100 bpmbpm , regular intact peripheral, regular intact peripheral
pulsation , 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.no
numbness ornumbness or parasthesiaparasthesia..

4. Local exam.Local exam.
 Chest : good air entry bilateral , no audibleChest : good air entry bilateral , no audible
wheaseswheases oror crepitationscrepitations..
 Abdomen : mildAbdomen : mild splenomegallysplenomegally..
 PrecordialPrecordial : apex at normal site ,: apex at normal site ,
hyperdynamichyperdynamic ,, localisedlocalised , no special, no special
pulsations 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 the
apex , mid lower leftapex , mid lower left sternalsternal border.border.

5. mitralizationmitralization of Lt borderof Lt border
within normal CTR.within normal CTR.
NormalNormal BVMsBVMs..

6. Sinus rhythmSinus rhythm
Incomplete RBBB , RAXIncomplete RBBB , RAX
PP--RAERAE

7. LABLAB
 CBC:CBC: HbHb=14.5 g/dl ,=14.5 g/dl , pltplt=170 /=170 /cmmcmm ,,
WBCsWBCs=6300 /=6300 /cmmcmm (relative(relative eosinophiliaeosinophilia
21%).21%).
 LFTsLFTs ,, RFTsRFTs are all normal .are all normal .
 ESR : 1ESR : 1stst
H : 20 , 2H : 20 , 2ndnd
H : 50 .H : 50 .
 Urine : traces of protein.Urine : traces of protein.

8. EchocardiographyEchocardiography
2D2D ––viewsviews

14. MM--modemode

15. LA : 43 mm
Ao : 25 mm
AoE: 17 mm

16. RV DIAM d : 11.6 mm
IVS dia : 22.6 mm
LVD dia : 38.8 mm
PW dia : 21.3 mm
IVS sys : 26.5 mm
LVD sys : 25.9 mm
PW sys : 25.9 mm
EF : 63 %
FRACT SH : 33 %
SEP THICK : 17 %
PW THICK : 21 %
LV MASS : 516 g

18. Doppler studyDoppler study

19. MVE=95 cm
MVA=42cm
E/A =2.22222
IVRT=87 ms

20. E’=0.62 cm
E/E’=16

21. Vmax=1 m/s
maxSPG=4 mmHg

22. DiagnosisDiagnosis
Infiltrative!!
Systemic or local?
Infiltrative or
Hypertrophic?
Diastolic HF
Restrictive HD
Journal of the American Society of Echocardiography
February 2009

23. Diagnostic approachDiagnostic approach

24. Specific investigationsSpecific investigations
 Serum electrophoresisSerum electrophoresis ::
--veve forfor monocloalmonocloal
gammopathygammopathy
 Biopsy for specialBiopsy for special
staining (staining (congocongo red):red):
 abdominal fat aspirateabdominal fat aspirate ::
--veve
 Multiple ColonicMultiple Colonic
endoscope biopsiesendoscope biopsies ::--veve

25. Definitive DiagnosisDefinitive Diagnosis
TTRTTR--CMCM
Familial hereditaryFamilial hereditary
AmyloidosisAmyloidosis
transthyretintransthyretin amyloidosisamyloidosis
relatedrelated
CardiomyopathyCardiomyopathy

26. ReviewReview
ofof
literaturesliteratures

27.  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)

28. ComparisonComparison
 ALAL--amyloidosisamyloidosis
 ECG: low voltage , AF ,ECG: low voltage , AF ,
VtachVtach..
 clinical : severe patternclinical : severe pattern
of HF related to wallof HF related to wall
thickness.thickness.
 9mTc9mTc--DPDDPD scintigraphyscintigraphy::
no uptakeno uptake
 Prognosis : worse relatedPrognosis : worse related
to MM.to 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 heart
failure .failure .
 Uptake .Uptake .
 Prognosis :better long termPrognosis :better long term
survival.survival.
 TttTtt: liver transplantation: liver transplantation

29. GenotypeGenotype -- phenotypephenotype
 The TTCThe TTC--CM isCM is AutosomalAutosomal DominantDominant
 Screening of the family byScreening of the family by
echocardiography : both parents areechocardiography : both parents are
normal .???normal .???
 Rarely, cases result from new mutations inRarely, cases result from new mutations in
the gene and occur in people with nothe gene and occur in people with no
history of the disorder in their family.history of the disorder in their family.

30. New treatment modalityNew treatment modality

32.  The patient data must be integrated to reachThe patient data must be integrated to reach
diagnosis.diagnosis.
 Tissue DopplerTissue Doppler ……provide strong evidence inprovide strong evidence in
heart muscle disease.heart muscle disease.
 AmyloidosisAmyloidosis is a disease of pathology ,must beis a disease of pathology ,must be
confirmed 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 to
differentiate between the 2 types .differentiate between the 2 types .

33. Thank youThank you