Rextrlctlve myocurJltlx

Ftlologlcul cluxxlflcutlon
MyocurJlul
Non infi/trotive
O IdlopaLhlc cardlomyopaLhy
O Iamlllal
O nyperLrophlc
O Scleroderma
O doxanLhoma
O DlabeLlc cardlomyopaLhy
nfi/trotive
O Amyloldol
O Sarcoldol
O Gacher dleae
O IaLLy lnfllLraLlon
O nrler dleae
toroqe
O nemochromaLol
O Glycogen Lorage dleae
O Iabry dleae

FnJomyocurJlul
Lndomyocardlal flbrol
2 nypereolnophlllc yndrome
3 Carclnold yndrome ( Carclnold hearL dleae)
4 MeLaLaLlc cancer
kadlaLlon
6 1oxlc effecL of anLhracycllne
7 Drg calng flbro endocardlLl
SeroLonln ergoLamlne meLhyerglde blfan



AmylolJoxlx
leae proce relL from Lle depolLlon of proLeln whlch 've nlqe econdary LrcLre
Amylold cold be fond ln any organ bL doen'L cae dleae excepL lf exLenlve
May be prlmary or econdary
Primary Amyloidosis
L depolLlon of proLeln lg llghL chaln () wlLhln Lle
L monoclonal expanlon of Lhe plama cell ln Lhe eLLlng of mlLlple myeloma
arely wlLh paLlenL plama cell dycrala may develop reLrlcLlve cardlomyopaLhy L depolLlon
of Lhe llghL chaln ln non amylold paLLern
$0.ondary Amyloidosis (r0a.9iv0 sys90mi.amyloid )
L excelve prodcLlon of non lmmnogloblln ( )
amilial Amyloidosis
ALoomal domlnanL
MlLlple polnL mLaLlon ln tronsthyretin gene prodce one of Lhree
-ephropaLhy
-eropaLhy
CardlomyopaLhy
lolaLed cardlomyopaLhy ally occr wlLh old age AfrlcanAmerlcan
@reaLmenL may be llver LranplanLaLlon ( LranLhyreLln prodced ln llver)
$0nil0 sys90mi. Amyloidosis
Amylold depolLlon of proLeln
A-9 (aLrlal naLreLlc pepLlde)
@ranLhyreLln
eLLer prognol Lhan AL gp
l of Al

CurJluc AmylolJoxlx
lncldence male female rare before age of 40y (age of 3 Lyplcal)
Primary Amyloidosis wi9 plasma .0ll dys.rasia
ne Lhlrd of 9L cardlac lnvolvemenL
-ecropy proLeln
$0.ondary Amyloidosis
Le myocardlal lnfllLraLlon ( le myocardlal dyfncLlon )
AA proLeln are maller and perlvaclar locaLlon
amilial Amyloidosis (9rans9yr09in g0n0 )
ne forLh of 9L've cardlac lnvolvemenL ( cardlac condcLlon )
-erologlcal + renal lnvolvemenL may alo predomlnanL
$2 9L coz of Lhe deaLh SC or Pl
$0nil0 Amyloidosis
epolL vary from lolaLed aLrlal lnvolvemenL Lo exLenlve venLrlclar lnfllLraLlon ever
cardlomyopaLhy

Puthology
0roxxly: waxy and rbbery wlLh enlarged aLrlm
Mlcroxcoplcully
amylold depolL can be een lnbeLween cardlac myocyLe
local Lhlcenlng of Lhe valve valve dyfncLlon
r amylold depolL wlLhln medla and advenLlLla of Lhe lnLramral coronarle lmpalred
coronary perflon





Cllnlcul plcture
(lor overlapplng cardlac yndrome)
restrictive cordiomyopothy
lncreae dlaLollc chamber Llffne lmpalred Lv felllng flld reLenLlon + edema
preferably + hepaLomegaly + lncreae !v9
Pemodynamlc meare clalc (dip ond p/oteou squore root siqn)
arly dlaLollc fllllng raLe decreaed (acceleraLed ln conLrlcLlve cardlomyopaLhy)
systo/ic heort foi/ure
SyLollc fncLlon l normal early ln Lhe dleae bL deLerloraLe by progrelve of Lhe
dleae
aLrlal arreL ( alLhogh flly fncLlonlng SA-)
lo of aLrlal LranporL fncLlon worenlng Pl
anglna pecLorl may develop alLhogh normal coronarle ( anglographlcally)
rthostotic hypotension {%
L amylold lnfllLraLlon of aLonomlc nerve yLem or blood veel or boLh
(or lnfllLraLlon boLh hearL and adrenal gland may coz Lhl Lype )
renal fallre from nephroLlc yndrome and flld reLenLlon cold woren'g Lhe
hypoLenlon
Syncope a WlLh phylcal Lre + emoLlon (bad prognol)
conduction system diseose
leaL common form of Amyloldol arrhyLhmla and condcLlon delayed SC




Phyxlcul exumlnutlon
lgn of CPl lncreae !v9 + yLemlc congeLlon+ hepaLomegaly + LL edema
aclLaLlon aplcal yLollc mrmr (M) S 3 gallop+ S4 (abenL Al or lmpalred aLrlal
conLracLlon)
p normal or redced
-arrow ple prere L low C9




Invextlgutlon:
FC0
low volLage qr
2
3 abnormal axl
4 dlmlnlhed or abenL ln perlcardlal lead or ln C ln lnferlor lead
Af ( aLrlal lnvolvemenL )
6 v@
7 Av defecL condcLlon ( peclally famlllal amylold wlLh polyneropaLhy)
8 SSS
Chext X ruy
Cardlomegally ( only wlLh yLollc dyfncLlon)
2 9l CongeLlon
FPS
@o deLecL lnLrahllan bloc
Fcho
lncreae venLrlclar wall Lhlcne
2 @hlcened valve wlLh normal excrlon
3 Large aLrlm + Lhlcened lAS
4 venL Wall how parllng and granlar LexLre
Small lnLracavlLy
6 -ormal yLollc fncLlon ( early decreaed laLe )
7 oppler degree of dlaLollc dyfncLlon
8 9erlcardlal efflon noL advanced Lo Lamponade
MRI + RAIONUCIIF
adloncllde fale ve may occr
2 Ml very hlgh enlLlve wlLh lgnlflcanL prognoLlc lmporLance
3 May deLecL ympaLheLlc denervaLlon ln cardlac Amyloldol

lugnoxlx
lopy of alLernaLlve locaLlon (abdomlnal pad faL + glnglval + bone marrow + ldney ) alo efl ln
deLecLlon of yLemlc Amyloldol
ndomyocardlal blopy for cardlac lnvolvemenL

reutment
Prlmury AmylolJoxlx
hemotheropy are alylaLlng agenL alone or wlLh aLologo bone marrow Leam elf
LranplanLaLlon
ComblnaLlon beLween PearL LranplanLaLlon +bone marrow LranplanLaLlon beLLer ln pL
alLhogh amylold hearL may occr
umlllul umylolJ ( LranLhyreLln ) llver LranplanLaLlon
Senlle formx no effecLlve LreaLmenL _ benlgn core

Conventlonul treutment:
D|g|ta||s Al raLe conLrol Lhey r more enlLlve Lo dlglLall
CC8 caLloly (ve lnoLroplc )
D|uret|cs for volme overload
Iasod||ators enhance dlrel +rellve ympLom(careflly L decreae 9 )
ICDs + pacemaker
Ant|coagu|at|on Al aLrlal LandLlll










InherlteJ& ucqulreJ lnflltrutlve JlxorJerx cuuxlng
rextrlctlve curJlomyoputhy
ner|tab|e metabo||c d|sorders are
O labry' dleae and
O acher dleae glycogenoe
O Mcopolyacharldoe
ubryx Jlxeuxe ( Anglokerutomucorborlx Jefuxum unlverxul)

O Ollned recelve
O Lead Lo decreae a|pha ga|actos|dase A (lyozomal enzyme) accmlaLlon of glycolllpld ln
endoLhellm
O 60 mLaLlon from compleLely abenL or aLLenaLed enzyme
O ldney cLaneo wlLh oLher yLemlc manlfeLaLlon compleLely abenL enzyme
O lolaLed cardlac dleae (fabry' ) aLLenaLed enzyme
Puthology:
dlffe lnvolvemenL ln myocardlal and vaclar endoLhellm + condcLlon yLem +
valve
MoLly Mv
Cllnlcul plcture
Anglna Ml L AccmlaLlon of llpld ln coronary endoLhellm (coronary anglo normal )
2 P@-
3 CPl
4 Mv9
Fcho
lncreae venL wall Lhlcne ( mlmlc hyperLrophlc cardlomyopaLhy)
MRI :
dlfferenLlaLe fabry' dleae from Amyloldol

FC0:
ShorL 9 + Av bloc + S@ + @ wave abnormallLy
FnJomyocurJlul blopxy
(deflnlLe dlagnol)
Iow pluxmu ulphu guluctoxlJuxe A uctlvlty
(deflnlLe dlagnol)

reutment:
AdmlnlLraLlon of recomblnanL alphagalacLoldae A yLemlc cllnlcal and echo lmprovemenL


0uucher Jlxeuxe:
L herlLable deflclency of beLa glcoldae accmlaLlon of cerebrolde ln pleen + llver + + lymph
- + braln + hearL
Cllnlcul plcture
Lv fallre + enlargemenL
2 Pemorrhaglc perlcardlal efflon
3 SLlffened venLrlcle
4 ScleroLlc
Calclflc on lefL lded valve

reutment :
enzyme replacemenL Lherapy +$ llver LranplanLaLlon

emochromutoxlx:
xcelve depolLlon of lron ln varlLy of parenchymal Lle llver hearL pancrea + gonad

Cllnlcul plcture cluxxlcul pentuJ
Pl
2 Clrrhol
3 M
4 lmpoLence
ArLhrlLl

Cuuxex:
O ALoomal recelve moL freqenLmLaLlon nIG gene
O lneffecLlve eryLhropolel
O Chronlc llver dl
O Acqlred L chronlc and exLenlve oral or parenLal lnLae
Cllnlcul plcture:
Mlxed yLollc + dlaLollc dyfncLlon
ArrhyLhmla


lemale male L menLral lo of lron
eaLh $3 of pL cardlac (yong male)PCC and llver clrrhol

0roxxly
dllaLed cardlac wlLh Lhlcened wall
Mlcroxcoplcully:
lron ln venLrlcle aLrlal myocyLe
May lnvolve condcLlon yLem
Invextlgutlon
Fcho
lncreae Lv wall Lhlcne
2 Lv dllaLaLlon venLrlclar dyfncLlon
MRI+ C :
efl Lo deLecL bcllnlcal myocardlal lnvolvemenL
FnJomyocurJlul blopxy
conflrmaLory bL may be fale ve
FC0
WlLh advanced cardlac lnvolvemenL
S@ +@ wave abnormallLy Sv@
Invextlgutlon by lub:
lncreae plama lron level + erm ferrlLln + rlnary le + llver le
SaLraLlon of Lranferrln
ec or normal @oLal lron capaclLy
reutmen
one repeaLed phleboLomy
2 lron chelaLlng agenL ch a deferrloxamlne
3 Cardlac LranplanLaLlon

0lycogen Storuge lxeuxe

Patients with type II, III, IV, and V glycogen storage diseases
survival to adulthood is rare with the exception oI patients with type III disease
eIt ventricular hypertrophy.
ardiac dysIunction, arrhythmias, and D.




Inflummutory cuuxex of lnflltrutlve curJlomyoputhy

SARCOIOSIS
-on caeaLlng granle moL commonly Lng S Sln PearL
Cardlac lnvolvemenL econdary Lo Lhe lng lnvolvemenL (exLenlve plmonary flbrol) L Pl


Cllnlcul plcture
Pl L dlrecL cardlac lnvolvemenL or corplmonal L lng flbrol
2 PearL bloc
3 SC
4 Syncope
ArrhyLhmla
6 CM
7 MallgnanL venLrlclar arrhyLhmla

Puthology-Mlcroxcoplcully:
non caeaLlng granloma rronded by mlLlncleaLed glanL cell ln mlLlple organ
(dlagnoLlc )
DD g|ant ce|| myocard|t|s chron|c act|ve myocard|t|s
Fxumlnutlon :
xLracardlac arcold r may be normal
Aplcal yLollc mrmr L M L chamber dllaLaLlon or lnfllLraLe Lhe paplllary mcle
Mrmr of @ + 9 + L S3 9P@- + corplmonal
S3+S4
FC0:
non peclflc myocardlal lnvolvemenL + @ wave abnormallLle (common )
Av bloc + lnLravenLrlclar delay
C wave (lndlcaLe for exLenlve myocardlal replacemenL+flbrol )
Chext X-ruy
bllaLeral hllar lymphadenopaLhy


Fcho
global or reglonal dyfncLlon may reveal anerym
Lv dllaLaLlon
9erlcardlal efflon
@ lde enlargemenL and hyperLrophy
lncreae echogenllLy
Nucleur lmuglng


reutment:
lmmne pprelve Lherapy
CorLlcoLerold condcLlon dlLrbance + arrhyLhmla + myocardlal dyfncLlon may repond Lo
lL
hydroxylchloroqlne + cyclophophade + meLhoLrexaLe
2 lC
3 9acemaer
4 PearL lng LranplanLaLlon


FnJomyocurJlul Jlxeuxe
ef. + puthogenexlx
#ve two var|at|ons
ndomyocardlal flbrol
Pypereolnophlllc yndrome
oLh depend on Loxlc effecL of eolnophlll on myocardlm
Stugex
Necrosis myocardlLl + arLerlLl (loffler endocardlLl)
2 @hrombotic nonpeclflc myocardlal Lhlcenlng layer of Lhromb
3 ibrosis heallng (ndomyocardlal flbrol )

Iofflerx xynJrome (hyper-eoxlnophlllc xynJrome)
@emperaLe cllmaLe
olnophll conL00 mm
3
for aL leaL 6 monLh cardlac lnvolvemenL
olnophllla may be 2 ry Lo leemla + reacLlve (paralLlc lnfecLlon+ neoplam+ granlomaL
yndrome + hyperenlLlvlLy )
9L wlLh chrg Lra yndrome (aLhma +allerglc rhlnlLl+ necroLlzlng vaclLle ofLen have
cardlac lnvolvemenL
Puthology:
MlLlorgan lnvolvemenL (hearL + lng + braln + bone marrow )
lnvolve boLh chamber of Lhe hearL endocardlal Lhlcenlng of lnflow reglon and venLrlclar
aplce
CIINICAI MANIFSAIONS.
Patients with hypereosinophilic syndrome exhibit weight loss, Iever, cough, rash, and congestive
heart Iailure. urmurs oI mitral regurgitation are common.
$ystemic emboli ( neurological and renal)
Death results Irom heart Iailure associated with renal, hepatic, or pulmonary involvement.

Chext X-ruy
enlarged cardiac silhouette
Pulmonary congestion or, less Irequently pulmonary inIiltrates.
FlectrocurJlogrum
are nonspeciIic and include $% segment and % wave abnormalities.
trial Iibrillation and conduction deIects(RBBB),
FchocurJlogrum
. Iten shows regional thickening oI the postero-basal portion oI the leIt ventricular wall, with
substantial impairment in the motion oI the posterior leaIlet oI the mitral valve.
2. %he apex may be obliterated by thrombus.
3. %he atria are oIten dilated,
4. trio-ventricular regurgitation.
5. $ystolic Iunction is oIten normal. with abnormal diastolic Iilling
CurJluc cutheterlzutlon
O levated ventricular Iilling pressures tricuspid or mitral regurgitation.
AnglocurJlogruphy
O characteristic Ieature is largely preserved systolic Iunction with obliteration oI the apex oI the
ventricles.
FnJomyocurJlul blopxy
O an provide diagnostic conIirmation, but is not always positive
MANA0FMFN.
There is a role for both medical and surgical therapy,
. orticosteroids and cytotoxic drugs such as hydroxyurea may have an important Iavorable eIIect
on survival.
2. In reIractory patients, treatment with interIeron may oIIer a valuable adjunctive therapy.
3. Routine supportive cardiac therapy with diuretics,
4. Neuro-hormonal blockade, and
5. nticoagulation as indicated is appropriate Ior management oI these patients.
6. $urgical therapy consisting oI endocardiectomy and valve replacement or repair.

FnJomyocurJlul lbroxlx
in tropical and subtropical Irica,
ale Iemale , white ,black . most common in children and young adults, but has been described
in individuals into the sixth decade oI liIe



PAOIO0Y.
ndomyocardial Iibrosis aIIects both the right and leIt ventricles in approximately 50 oI
patients,
purely the leIt in 40
%he right ventricle alone in 0 .


%he typical gross appearance is that oI a normal to slightly enlarged heart.
%he right atrium may be dilated in proportion to the severity oI right ventricular involvement
pericardial eIIusion, may be large.
%he right-sided heart border may be indented due to apical scarring.
Iibrotic obliteration oI the apex oI the aIIected ventricle(s)
%he Iibrosis involves the papillary muscles and chordae tendineae leading to atrioventricular valve
distortion and regurgitation.
In the leIt ventricle, the Iibrosis extends Irom the apex to the posterior mitral valve leaIlet, usually
sparing the anterior mitral leaIlet and the ventricular outIlow tract
ndocardial calciIic deposits can be present involving diIIuse areas oI the ventricle.
%he Iibrotic tissue oIten creates a nidus Ior thrombus Iormation, which can be extensive
trial thrombi also occur.
%he process usually does not involve the epicardium
%he coronary artery obstruction is distinctly uncommon.

ISOIO0ICAI ININ0S.
%hick layer oI collagen overlaying loosely arranged connective tissue.
ibrous and granular septations extending into the underlying myocardial tissue.
cellular inIiltration is uncommon,
yocytes hypertrophy is common
Interstitial edema is Irequently present.
ibroelastosis that is Iound in the ventricular outIlow tracts beneath the semilunar valves oIten
represents a secondary process caused by local trauma.
Intramural coronary arteries may show involvement with medial degeneration, the deposition oI
Iibrin, and Iibrosis.
CIINICAI MANIFSAIONS.
presentation relates to which ventricles are involved.
Death Dt H inIection inIarction $D complication oI surgery
poor prognosis Iactor

RI0 VFNRICUIAR FNOMYOCARIAI IBROSIS.
%he right ventricular apex is characterized by Iibrous obliteration, which may extend to the
tricuspid valve tricuspid regurgitation.
Patients exhibit an elevated jugular venous pressure, a prominent v wave with rapid y descent,
hepatomegaly with a pulsatile liver, ascites, splenomegaly, and peripheral edema, but pulmonary
congestion is typically absent
large pericardial eIIusion is oIten present.
%he right atrium dilated.
%he electrocardiogram oIten has Iindings with right-sided enlargement, especially a qR pattern in
lead V

supraventricular arrhythmias are common.
Chext x-ruy
right atrial prominence pericardial eIIusion,
calciIication in the RV walls.
FchocurJlogruphy:
thickening oI the RV with obliteration oI the apex,
dilated atrium,
hyperechoic endocardial surIaces
bnormal septal motion in patients with tricuspid regurgitation.
unglogruphy,
the right ventricular apex is typically not visualized ,
%R,
right atrial enlargement
illing deIects in the right atrium caused by thrombi may be present.


IF VFNRICUIAR FNOMYOCARIAI IBROSIS.
Iibrosis involves the ventricular apex and oIten the chordae tendineae or the posterior mitral valve
leaIlet producing mitral regurgitation.
associated with late systolic, characteristic oI a papillary muscle dysIunction murmur, or may be
pansystolic.
PH%N, and an $
3
gallop
electrocurJlogrum :
$% segment and % wave abnormalities,
low-voltage QR$ complexes iI a pericardial eIIusion is present, or
leIt ventricular hypertrophy.
eIt atrial abnormality poor prognosis
FchocurJlogruphy
increased endocardial echoreIlectivity preserved systolic Iunction,
apical obliteration
enlarged atrium
pericardial eIIusion
R
curJluc cutheterlzutlon,
PH%N leIt atrial hypertension
Reduced cardiac index.
mitral regurgitation,
Ventricular Iilling deIects caused by intracavitary thrombi may be present.

BIVFNRICUIAR FNOMYOCARIAI IBROSIS
ore common then isolated right- or leIt-sided disease.
R% side symptoms predominant unless leIt-sided involvement.
$ystemic embolization 5 and only 2 will have inIective endocarditis.

IA0NOSIS.
ndomyocardial biopsy is diagnostic, but Ialse-positives, leIt-sided myocardial biopsy is
contraindicated Dt systemic emboli
MANA0FMFN.
. Heart Iailure is diIIicult to control,
2. Diuretics are eIIective only in early stages oI disease, losing eIIicacy with advanced ascites.
3. $urgical therapy : endocardiectomy and valve replacement on aIIected side
4. Good outcome with high mortatility
FnJocurJlul lbroeluxtoxlx
disorder of fetuses and infants of unclear etiology,
haracterized by deposition oI collagen and elastin leading to ventricular hypertrophy and diIIuse
endocardial thickening.
ssociations with viral inIections (especially mumps), metabolic disorders, autoimmune disease,
and congenital leIt-sided obstructive lesions.
usually progresses to severe congestive heart Iailure and subsequent death.
FchocurJlogruphlc
Highly reIlective endocardial surIace oI the ventricular myocardium suggests.



NFOPIASIC INIIRAIVF CARIOMYOPAY-
CARCINOI FAR ISFASF
Irom the metastasis oI carcinoid tumors Irom the gut to the heart.
%he symptoms include marked cutaneous Ilushing, diarrhea, bronchoconstriction, and
endocardial plaques composed oI a unique type oI Iibrous tissue.
ll patients experience diarrhea and Ilushing (%he symptom complex is caused in large part by
the release oI serotonin and other circulating substances secreted by the tumor),
50 have cardiac lesions detected echocardiographically
25 have severe right-sided involvement.
arcinoid tumors originate largely Irom the gut, with 60 to 90 percent being Iound in the small
bowel and appendix, and the remainder arising Irom other regions oI the gastrointestinal tract or
the bronchi.
arcinoid tumors arising in the ileum pose the greatest risk oI metastasis, most likely aIIecting
regional lymph nodes and the liver.
PAOIO0Y.
Iibrous plaques involving locations 'downstream oI the tricuspid and pulmonic valves, the
endocardium, and the intima oI the venae cavae, pulmonary artery, and coronary sinus Both
stenotic and regurgitant valvular lesions
CIINICAI MANIFSAIONS.
ardiac murmurs indicating right-sided valve involvement .
systolic murmur oI tricuspid regurgitation or P$ or pulmonary regurge murmur
chext Xruy
may be either normal or may show cardiac enlargement and pleural eIIusions or nodules.
%he pulmonary artery not enlarged, and poststenotic dilation is also absent,
diIIerentiating pulmonic involvement Irom congenital pulmonic stenosis.
electrocurJlogrum ,
nonspeciIic $% segment, and % wave abnormalities
sinus tachycardia
low QR$ voltage with advanced dis.
FchocurJlogruphy
tricuspid or pulmonary valve thickening, and
enlargement oI the right atrium and ventricle
small pericardial eIIusion.
CurJluc MRI
evaluating the right side oI the heart that may be diIIicult to image with echocardiography.
MANA0FMFN.
or mild congestive heart Iailure, standard therapy with diuretics
neurohormonal antagonists is appropriate.
somatostatin analogues and chemotherapy can lead to improved symptoms
balloon valvuloplasty relieI oI stenotic lesions oI the tricuspid and pulmonary valves.