DonDon’’t misst miss……..the rare is still therethe rare is still there

Dr. AhmedDr. Ahmed TahaTaha HusseinHusseinM.Sc.cardiologyM.Sc.cardiology

Assistant lecturer cardiology Assistant lecturer cardiology

ZagazigZagazig university, EGYPTuniversity, EGYPT

historyhistory

Male pt. 23 years old with irrelevant Male pt. 23 years old with irrelevant medical or family history .medical or family history .

Developed chronic slowly progressive Developed 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 of He later on complaint of chest pain of typical ischemic character in the past few typical ischemic character in the past few weeks . weeks .

General examinationGeneral examination

Pulse: 100 Pulse: 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: no H&N: no lymphadenopathylymphadenopathy , no lumps., no lumps.

Skin : no rashes or other significant lesionsSkin : no rashes or other significant lesions

L.L: symmetric and L.L: symmetric and warm,nowarm,no oedemaoedema .no .no numbness or numbness or parasthesiaparasthesia. .

Local exam.Local exam.

Chest : good air entry bilateral , no audible Chest : good air entry bilateral , no audible wheaseswheases or or crepitationscrepitations. . Abdomen : mild Abdomen : 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 S4 Auscultation : prominent S1 , P2 , clear S4

, grade I, grade I--II II pansystolicpansystolic murmermurmer over the over the apex , mid lower left apex , mid lower left sternalsternal border. border.

mitralizationmitralization of Lt borderof Lt borderwithin normal CTR.within normal CTR.

Normal Normal BVMsBVMs..

Sinus rhythmSinus rhythmIncomplete RBBB , RAXIncomplete RBBB , RAX

PP--RAERAE

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 : 1stst H : 20 , 2H : 20 , 2ndnd H : 50 .H : 50 .

Urine : traces of protein. Urine : traces of protein.

EchocardiographyEchocardiography2D 2D ––views views

MM--modemode

LA : 43 mmAo : 25 mmAoE: 17 mm

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

Doppler studyDoppler study

MVE=95 cmMVA=42cmE/A =2.22222IVRT=87 ms

E’=0.62 cmE/E’=16

Vmax=1 m/smaxSPG=4 mmHg

DiagnosisDiagnosis

Infiltrative!! Systemic or local?

Infiltrative orHypertrophic?

Diastolic HFRestrictive HD

Journal of the American Society of EchocardiographyFebruary 2009

Diagnostic approachDiagnostic approach

Specific investigationsSpecific investigations

Serum electrophoresisSerum electrophoresis : : --veve for for monocloalmonocloalgammopathygammopathy

Biopsy for special Biopsy for special staining (staining (congocongo red):red):

abdominal fat aspirateabdominal fat aspirate : : --veve

Multiple Colonic Multiple Colonic endoscope biopsiesendoscope biopsies ::--veve

Definitive DiagnosisDefinitive Diagnosis

TTRTTR--CMCMFamilial hereditaryFamilial hereditary

AmyloidosisAmyloidosis

transthyretintransthyretin amyloidosisamyloidosisrelatedrelated

CardiomyopathyCardiomyopathy

ReviewReviewofof

literaturesliteratures

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)

ComparisonComparison

ALAL--amyloidosisamyloidosis

ECG: low voltage , AF , ECG: low voltage , AF , VtachVtach. .

clinical : severe pattern clinical : severe pattern of HF related to wall of HF related to wall thickness.thickness.

9mTc9mTc--DPD DPD scintigraphyscintigraphy: : no uptake no uptake

Prognosis : worse related Prognosis : 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 heart Clinical : much less heart failure .failure .

Uptake . Uptake .

Prognosis :better long term Prognosis :better long term survival. survival.

TttTtt: liver transplantation: liver transplantation

GenotypeGenotype -- phenotypephenotype

The TTCThe TTC--CM is CM is AutosomalAutosomal DominantDominant

Screening of the family by Screening of the family by echocardiography : both parents are echocardiography : both parents are normal .???normal .???

Rarely, cases result from new mutations in Rarely, cases result from new mutations in the gene and occur in people with no the gene and occur in people with no history of the disorder in their family. history of the disorder in their family.

New treatment modalityNew treatment modality

The patient data must be integrated to reach The patient data must be integrated to reach diagnosis.diagnosis.

Tissue Doppler Tissue Doppler ……provide strong evidence in provide strong evidence in heart muscle disease.heart muscle disease.

AmyloidosisAmyloidosis is a disease of pathology ,must be is 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--invasive invasive scintigraphyscintigraphy can be a tool to can be a tool to differentiate between the 2 types . differentiate between the 2 types .

Thank youThank you