1. CARDIOMYOPATHIES
COMPILED BY : DR .ALIREZA HOGHOOGHI

2. CMP s: Heterogenous group of diseases of myocardiom
Associated with functional and structural abnormalities

3. Four main cmps DILATED CARDIOMYOPATHIES(DCM)
HYPERTROPHIC CARDIOMYOPATHIES(HCM)
RESTRICTIVE CARDIOMYOPATHIES(RCM)
ARRYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA

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

5. DCM
Characterized by: enlargement of LV or LV OR RV Impaired systolic function of LV or LV and RV DCM can be famillial or acquired ¼ of DCM are familial(genetic mutation)

6. Mode of inheretance is typically A.D
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 myocarditis
Exposure to cardiac toxins can also lead DCM

7. Long term exposure to alohol is an important preventable cause of DCM
Anthracyclines (doxorubicin).daunorbicin have dose dependant cardiac toxicity
Long term exposure to alohol is an important
preventable cause of DCM

8. TABLE 59-7   -- CAUSES OF DILATED CARDIOMYOPATHY
CARDIOVASCULAR DISORDERS
Systemic hypertension Ischemic heart disease Valvular heart disease Myocarditis Peripartum cardiomyopathy
TOXINS
Alcohol Catecholamines Anthracyclines Radiation Cocaine
ASSOCIATED SYSTEMIC DISEASES S
ystemic lupus erythematosus Polyarteritis nodosa Rheumatoid arthritis Scleroderma Dermatomyositis
MUSCULAR DISORDERS
Duchenne's muscular dystrophy Becker-type muscular dystrophy Myotonic dystrophy Mitochondrial disorders
HIGH-OUTPUT STATES Thiamine deficiency Thyrotoxicosis Severe anemia Arteriovenous fistulas/shunts Incessant tachycardia

9. 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

10. 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

11. 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

12. 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

13. 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

14. 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

15. PHENoTYPICAL EXPRESSION Is DIFFERENT BECAUSE OF DIFFERENT PENETARTION
Main pathophysiologic abnormalities seen in HCM are LVOT OBSTRUCTION
DIASTOLIC DYSFUNCTION .MR .ARRYTHMIA

17. 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

18. 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

19. 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

20. Ecg in hcm :increased QRS voltage suggestive of LVH
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

21. 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

22. 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

23. 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

24. FAMILIAL HEMOCHROMATOSIS MUTATION IN DESMIN
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

25. CONSTRICTIVE PERICARDITIS CAN PRESENT SIMILARLY TO RCM
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

26. 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

27. ,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

50. CARDIOMYOPATHIES