CARDIOMYOPATHIES COMPILED BY : DR.ALIREZA HOGHOOGHI.

CARDIOMYOPATHIES

COMPILED BY:

DR .ALIREZA HOGHOOGHI

CMP s:

•Heterogenous group of diseases of myocardiom

•Associated with functional and structural abnormalities

Four main cmps

•DILATED CARDIOMYOPATHIES(DCM)•HYPERTROPHIC CARDIOMYOPATHIES(HCM)

•RESTRICTIVE CARDIOMYOPATHIES(RCM)•ARRYTHMOGENIC RIGHT VENTRICULAR

DYSPLASIA

Familial (genetic )and non familial (acquired)form of the diseases have been describe

DCM

Characterized by: enlargement of LV or LV OR RV

Impaired systolic function of LV or LV and RVDCM can be famillial or acquired

¼of DCM are familial(genetic mutation)

Some specific mutations involve genes encode proteins of sarcomers,cytoskeeton ,nuclear membrane ,mitochondria and many remains unknown

•Mode of inheretance is typically A.D •NON FAMILIAL DCM HAS DIFFERENT CAUSES

•Mostly believed to be a result of acute viral myocarditisExposure to cardiac toxins can also lead DCM

Anthracyclines (doxorubicin).daunorbicin have dose dependant cardiac toxicity

•Long term exposure to alohol is an important •preventable cause of DCM

•TABLE 59-7 -- CAUSES OF DILATED CARDIOMYOPATHY•CARDIOVASCULAR DISORDERS

• Systemic hypertensionIschemic heart diseaseValvular heart diseaseMyocarditisPeripartum cardiomyopathy

•TOXINS •Alcohol

CatecholaminesAnthracyclinesRadiationCocaine

•ASSOCIATED SYSTEMIC DISEASES S•ystemic lupus erythematosus

Polyarteritis nodosaRheumatoid arthritisSclerodermaDermatomyositis

•MUSCULAR DISORDERS• Duchenne's muscular dystrophy

Becker-type muscular dystrophyMyotonic dystrophyMitochondrial disorders

• HIGH-OUTPUT STATES Thiamine deficiencyThyrotoxicosisSevere anemiaArteriovenous fistulas/shuntsIncessant tachycardia

Deficiency of nutrients .thiamin vit C,selenium,phosphate,calcium

•Peripartum DCM is a form of idiopathic DCM in last month of pregnancy or several month of delivery

•Pathogenesis is unknown autoimmune ,viral myocarditis ,hemodynamic stress

•PROLONGED SVT OR VT CAN LEAD TO DCM (tachycardia induced CMP)

•STRUCTURAL AND FUNCTIONAL CHANGES REVERSE AFTER CONTROL OF HR

Development of DCM can be gradual and many are asymptomatic first presentation is usually due to symptoms of heart failure :fatigue ,weakness,dyspnea,edema in some presenting episode is arrythmia

On physical exam: Tachycardia is often present ,narrow pulse pressure ,tachypnea,jvp distention

Laterally displaced apex,s3 gallop common ,murmur of MR and TR RALES ,PLEURAL EFFUSION,

IN SOME RIGHT SIDED HF IS PROMINENT :ASCITES,HEPATOMEGALY ,EDMEMA ,ANASARA

BNP LEVEL IS ELEVATED ECG NON SPECIFIC ST T CHANGE

•ECHO : EVALUATION OF LV SIZE AND FUNCTION AND ABNORMALITY OF VALVES, AND LV THROMBUS SO DO MRI

•MYOCARDIAL BIOPSY IS INDICATED IF ETIOLOGY OF DCM IS IN QUESTION

•IN PATIENT WITH STRONG FH REFERRAL FOR GENETIC STUDY IS CONSIDERED

THERAPY

•POTENTIAL REVERSIBLE CAUSES SHOULD BE ADDRESSED

•LOOP DIURETICS FOR CONGESTED PERSONS •GOOD FOR SYMPTOMS BUT EFFECT OF

SURVIVAL HAS NOT BEEN EVALUATED •ACEI.BETABLOCKERS ,HYDRALASINE

NITRATES ,ALDACTONE ,DIG ,CRT ,CRTD ,TRANSPLANT LV ASSISTED DEVICE

HCM •CHARACTERIZED BY LVH AND SMALL LV AND ABSENCE

OF AN APPARENT CAUSE FOR HYPERTROPHY •COMON GENETIC DISEASE 1/500 AND IS A.D

•>400 MUTATION IN 11 DIFFERENT GENE •MUTATION OF BETA MYOSIN HEAVY CHAIN IS FREQUENT

•THERE IS SPORADIC FORM •MICROSPIC PHENOTYPE .CARDIOMYOCYTE

HYPERTROPHY ,MYOFIBRILLAR AND INTERESTITIAL FIBROSIS

NEW ADDED TO HCM

•METABOLIC STORAGE DISEASE THAT RESULT IN CHANGES IN MYOCARDIAL APPEARANCE WHICH RESEMBLES HCM

•GYCOGEN STORAGE STORAGE DISEASE •LYSOSOMAL STORAGE DISEASE

DISORDER OF FATTY ACID METABOLISM

PHENoTYPICAL EXPRESSION Is DIFFERENT BECAUSE OF DIFFERENT PENETARTION

•Main pathophysiologic abnormalities seen in HCM are LVOT OBSTRUCTION

•DIASTOLIC DYSFUNCTION .MR .ARRYTHMIA

Presentation

•Some are asymptomatic•Symtom result of lvoto and diastolic dysfunction •Most frequent dyspnea on exertion,which causes

marked lv filling pressure and pulmonary venous pressures and congestion

•Ischemic chest pain in absence of CAD •Syncope and presyncope

•In some sudden death due to arrythmia is first presentation

Physical exam

•Bisferiens pulse •Forceful and sustained apical impulse

•Decreased complince of the LV during atrial contraction may lead to an audible s4

•Harsh crescendo and decrscendo sm best heard in lsb radiation to base of the heart

•May be apical holosystolic murmur of MR

Intensity of murmur will increase with valsalva ,standing and use of tng or inotrops

Intensity of murmur will decrease with squating ,volume loading ,use of beta blockers

Ecg in hcm :increased QRS voltage suggestive of LVH .SECONDARY ST CHANGE AND T INVERSION .,PSUDOINFARCT PATTERN WITH Q IN INF ,LAT OR ANT LEADS

•ECHO AND MRI ARE HELPFL IN CONFIRMING THE DIAGNOSIS

•ECHO IS USEFUL IN SCREENING •CATH IF ECHO IS NOT ADEQUATE AND CAN CONFIRM

INTRA CAVITARY GRADIENT

MANAGEMENT

•IS AIMED TO REDUCING TH LVOTOBSTRUCTION ,IMPROVING DIASTOLIC DYSFUNCTION AND REDUCING RISK OF SUDDEN DEATH

•BETABLOCKERS AND CALCIUM CHANNEL BLOCKERS AND DISOPYRAMIDE CAN REDUCE SYMPTOMS

PPM, SURGERY SEPTAL MYECTOMY,ALCOHOL ABLATION

•ICD FOR SUDEN DEATH: •1.PRIOR CARDIAC ARREST

•2.SUSTAIN VT•3>.30 MM VENTRICULAR THICK NESS

•4.SYNCOPE•5.FIRST DEGREE RELATIVE SUDDEN DEATH

RCM

•RCM IS RARE •CHARACTERIZED BY IMPAIRED VENTRICULAR

FILLING OR DECREASED DIASTOLIC VOLUME OF EITHER OR BOTH VENTRICLE

•VENTRICULAR PRESSURE RISE SIGNIFICNT •SYSTOLIC FUNCTION USUALLY IS PRESERVED

•ARE FAMILLIAL OR NONFAMILLIAL

ONE OF THE COMMON FORM OF FAMILLIAL FORM IS FAMILIAL AMYLOIDOSIS<TRANSTHYRETIN AND

APOLIPOPROTEINS

•FAMILIAL HEMOCHROMATOSIS•MUTATION IN DESMIN

•AQUIRED FORMS:AMYLOIDOSIS,SARCOIDOSIS,CARCINOID HEART DISEASE ,SCLERODERMA

•ENDOCARDIAL PATHOPHYSIOLOGY OF STIFFNESS IS ALSO PRESENT:HYPEREOSINOPHILIC SYNDROME

DIAGNOSIS OF RCM SHOULD BE CONSIDERED IN PATIENT WITH PREDOMINANTLY RV FAILURE WITHOT EVIDENCE OF

CARDIOMEGALY OR SYSTOLIC DYSFUNCTION

•CONSTRICTIVE PERICARDITIS CAN PRESENT SIMILARLY TO RCM

•TREATMENT IS FOCUSED ON ALLEVIATATING THE SYMPTOMS OF HEART FAILURE

ARVD

•IS A.D •MALE PREDOMINANCE

•PROGRRESIVE REPLACEMENT OF RV MYOCARDIUM BY FIBROUS AND ADIPOSE TISSUE INSOME INVOLVES LV IN THESE PATIENT PRESENTATION MAY RESEMBLE DCM

•PREVALNCE 1/1000 TO 1/5000•PRESENTING IN YOUNG ADULT

•PRESENTING SYMPTOMS IS USUALLY ARRYTHMIA ,PALPITATION ,SYNCOPE,,SUDDEN DEATH ,SYMPTOM OF RV FAILURE IS RARE

,BY CLINICAL PRESENTATION DIAGNOSIS IS MADE

•Resting ECG •FAMILY HISTORY •IMAGING STUDY

•ECG USUALY NORMAL BUT SOME MAY HAVE INCOMPLETE OR COMPLETE RBB AND EPSILON WAVE AND INVERTED T WAVES IN PRECORDIAL

•VT MOOMORPHIC WITH LBBB PATTERN •TREATMENT BY ICD

•CARDIOMYOPATHIES