Cardiomyopathies Faculty of Medicine University of Brawija Malang
Dec 30, 2015
Cardiomyopathies
Faculty of MedicineUniversity of BrawijayaMalang
Definition
“A heart muscle disease, often of unknown cause …”
Cardiomyopathy• Greek “kardia” heart + “myo” muscle
“patheia” suffering/disease
• 1980 WHO: “heart muscle disease of unknown cause”
• 1995 WHO/Task force: “diseases of the myocardium associated with cardiac dysfunction”
Classification
• etiology• gross anatomy• histology• genetics• biochemistry
• immunology• hemodynamics• functional• prognosis• treatment
WHO Classification
• Unknown cause(primary)– Dilated – Hypertrophic– Restrictive– unclassified
• Specific heart muscle disease (secondary)– Infective– Metabolic– Systemic disease– Heredofamilial– Sensitivity– Toxic
Br Heart J 1980; 44:672-673
Functional Classification
• Dilatated (congestive, DCM, IDC)– ventricular enlargement and syst dysfunction
• Hypertrophic (IHSS, HCM, HOCM)– inappropriate myocardial hypertrophy
in the absence of HTN (hypertension) or aortic stenosis
• Restrictive (infiltrative)– abnormal filling and diastolic function
Cardiomyopathies
Idiopathic DilatedIdiopathic Dilated
Konstam MA. Konstam MA. J Card Failure.J Card Failure. 2003. 2003.
HF-DilatedHF-Dilated
HypertensiveHypertensiveIschemicIschemic
HF-Non DilatedHF-Non Dilated
Hypertrophic CMHypertrophic CM
Characteristics of the three types of cardiomyopathy
Types LV wall LV cavity Systolic contrac-tility
Diastolic Compli-ance
Prognosis 10 year survival rate
Dilated Cardiomyo-pathy
Thin Large ↓ Normal to ↓* 30-40%
Hypertro-phic Cardio-myopathy
Thick Small ↑ ↓ 70%
Restrictive Cardiomyo-pathy
Normal to ↑ Normal Normal to ↓ ↓↓ 50% (idio-pathic type)
Contractility or compliance may be normal early in the disease state but may become abnormal subsequently
General approach to a patient with Cardiomyopathy
• Define the problem:– 1. Failure? – due to a low cardiac output state
(Dilated CM) or obstruction to LV filling (restrictive CM)
– 2. Arrhythmia? – due to supraventricular or ventricular arrhythmias.
– 3. Syncope?- due to obstruction in LV outflow tract (HOCM) and/or arrhythmias especially slow rates.
Dilated Dilated CardiomyopathyCardiomyopathy
Dilated Cardiomyopathy
• The heart is dilated and has impaired function
• The coronary arteries are normal.
Idiopathic Dilated CardiomyopathyObserved Survival of 104 Patients
104
72
56 5145
37 35 3124 19 16
0
20
40
60
80
100
120
0 1 2 3 4 5 6 7 8 9 10
Years
Am J Cardiol 1981; 47:525
Incidence and Prognosis
• 3-10 cases per 100,000
• 20,000 new cases per year in the U.S.A.• death from progressive pump failure
1-year 25%2-year 35-40%5-year 40-80%
• stabilization observed in 20-50% of patient
• complete recovery is rare
Features for Diagnosis of Dilated Cardiomypathy
• Signs and symptoms of systolic heart failure
• Echocardiography shows dilated LV with global hypokinesia
• Normal coronary artery by angiography
• Presence of predisposing factors such as alcoholism, malnutrition etc
Etiologic classification of the Dilated Cardiomyopathy
I. Idiopathic
II. InflammatoryA. Infectious
A. Viral
B. Bacterial
C. Mycobacterial
D. Others: Parasitic, Rickettsial, Fungal
B. Non-infectiousA. Peripartal cardiomyopathy
B. Autoimmune disease
C. Hypersensitivity reaction
D. Tranplantation rejection
Etiologic classification of the Dilated Cardiomyopathy
III. Toxic agents
A. Alcohol
B. Methamphetamines/ Cocaine
C. Chemotherapeutic agents (Doxorubicin)
D. Cigarette smoking
E. Elemental compounds
D. Cathecolamines
Etiologic classification of the Dilated Cardiomyopathy
IV. Metabolic
A. Malnutrition
B. Endocrinologic: Thyrotoxicosis
C. Electrolyte abnormalities
D. Cigarette smoking
E. Elemental compounds
F. Cathecolamines
Etiologic classification of the Dilated Cardiomyopathy
V. Familial cardiomyopathy
A. Neuromyopathic
1. Progressive muscular dystrophy
2. Myotonic muscular dystrophy
3. Friedrich’s ataxia
B. Hereditary dilated Cardiomyopathy
Clinical features
• Progressive biventricular heart failure leads to symptoms– Fatigue– Paroxysmal nocturnal dyspnea, orthopnea,
dyspnea– Peripheral edema– Ascites
Clinical history
• History of specific exposure to etiologic agents (e.g alcohol, methamphetamine)
• Symptoms of left sided failure, then right sided heart failure
• Chest pain may be present in the absence of ischemic heart disease
Physical examination
• Similar to those of congestive heart failure
• Dilated heart, distended neck veins with functional MR murmur due mitral annular dilatation
History and Physical Examination
• Symptoms of heart failure– pulmonary congestion (left HF)
dyspnea (rest, exertional, nocturnal), orthpnea– systemic congestion (right HF)
edema, nausea, abdominal pain, nocturia– low cardiac output
fatigue and weakness
• hypotension, tachycardia, tachypnea, JVD (jugular venous distention)
Clinical features
• Other complications secondary to the progressive dilatation of the ventricles include:– Mural thrombi with systemic or pulmonary
embolization– Dilatation of the tricuspid and mitral valve rings
leading to functional valve regurgitation– Atrial fibrillation and other arrhythmias– Ventricular tachyarrhythmias and sudden death
Diagnostic tests
1. ECG: non-specific changes; may show LVH, occasionally LBBB
2. Chest X-ray: multichamber dilatation with congestive features
3. Echocardiography: multichamber dilatation, LV wall motion abnormalities usually global hypokinesia
4. Coronary angiography: normal coronary arteries
5. Angiography indicated only to rule out ischemic heart disease (“ischemic” cardiomyopathy)
Echocardiography
• Evaluation of dilated ventricles
• Evaluation of regurgitant valves
• Evaluation of thrombus
Normal echo
Management
• Search and treat any underlying cause ( e.g stop alcohol)• Treat heart failure (diuretics, ACE-inhibitor,
nitrates/hydralazine combination)• Treat any arrhythmias• Prevention of sudden death with placement of implantable
cardioverter defibrillator (ICD) is not recommended• Anticoagulate with warfarin to prevent mural thrombi• If cardiac failure does not respond to the above steps if
suitable candidate cardiac transplantation
Predicting Prognosis in IDC
Predictive Possible Not PredictiveClinical factors symptoms alcoholism age
peripartum durationfamily history viral illness
Hemodynamics LVEF LV sizeCardiac index atrial pressure
Dysarrhythmia LV cond delay AV block simple VPCcomplex VPC atrial fibrillation
Histology myofibril volume other findings
Neuroendocrine hyponatremiaplasma norepinephrineatrial natriuretic factor
VPC: ventricular premature contraction
Clinical Indications for Endomyocardial Biopsy
• Definite– monitoring of cardiac allograft rejection– monitoring of anthracycline cardiotoxicity
• Possible– detection and monitoring of myocarditis– diagnosis of secondary cardiomyopathies– differentiation between restrictive and
constrictive heart disease
Hypertrophic cardiomyopathy
Types of hypertrophic cardiomyopathy
• 1. Obstructive type. Synonym: idiopatthic hypertrophic subaortic stenosis
• 2. Non obstructive type
Features for diagnosis
• Dyspne or syncope• May have a family history of hypertrophic
cardiomyopathy in 50% of cases• Characteristic systolic ejection murmur at the
left sternal area which increases with valsalva maneuver (in obstructive type)
Features for diagnosis (continued)
• Marked hypertrophy of the left ventricle involving the interventricular septum and the LV outflow tract in the absence of other causes of hypertrophy
• Echocardiography shows interventricular septum to posterior LV wall ratio > 1.3:1.
Hypertrophic obstructive cardiomyopathy
• Characterized by asymmetrical hypertrophy of the cardiac septum – the cardiac septum is hypertrophied compared to the free wall of the left ventricle.
• The most common cause of heart-related sudden death in those under 30 years old.
• HOCM is inherited as an autosomally dominant trait with equal sex incidence
• The genetic abnormality is the subject of much current research, and it seems that different genes may be involved in different families
Hypertrophic obstructive cardiomyopathy
• The myocytes of the left ventricle are abnormally thick when examined microscopically left ventricular filling more difficult than normal and grossly disordered
Pathophysiology
• Systole– dynamic outflow tract gradient
• Diastole– impaired diastolic filling, filling pressure
• Myocardial ischemia muscle mass, filling pressure, O2 demand vasodilator reserve, capillary density– abnormal intramural coronary arteries– systolic compression of arteries
65% 35%
10%
www.kanter.com/hcm
Natural History
• annual mortality 3% in referral centersprobably closer to 1% for all patients
• risk of SCD higher in children may be as high as 6% per yearmajority have progressive hypertrophy
• clinical deterioration usually is slow
• progression to DCM occurs in 10-15%
Risk Factors for SCD (sudden cardiac death)
• Young age (<30 years)• “Malignant” family history of sudden death• Gene mutations prone to SCD (ex. Arg403Gln)• Aborted sudden cardiac death• Sustained VT or SVT• Recurrent syncope in the young• Nonsustained VT (Holter Monitoring)• Brady arrhythmias (occult conduction disease)
Br Heart J 1994; 72:S13
Clinical features
• Symptoms usually begins in the third and fourth decades of life.
• Four main symptoms:– Angina – due to the increased oxygen demands of the
hypertrophied muscle– Palpitations- atrial fibrillations and/or ventricular arrhythmias– Syncope and sudden death – due to LVOT obstruction by the
hypertrophied septum or to ventricular arrhythmia– Orthopnea/paroxysmal nocturnal dyspnea/dyspnea – due to
high end diastolic pressure pulmonary edema
Clinical features
• The signs to watch for are:– Jerky peripheral pulse– Double apical beat (bisferiens pulse)– Prominent “a” wave in jugular– Systolic thrill– Systolic murmur
Diagnosis and investigations
• Electrocardiography
• Continuous ambulatory electrocardiography (Holter)
• Echocardiography
Electrocardiography
• The EKG is usually abnormal
• T wave and ST segment abnormalities
• LVH (Left ventricular hypertrophy)
Holter
• Ventricular arrhythmias
Echocardiography
• The most useful investigation
• Characteristic echocardiography findings:– Increased mass of the left ventricle with
asymmetric hypertrophy of the septum– Abnormal systolic anterior motion of the
anterior leaflet of the mitral valve– Calcification of the mitral valve– Left ventricular outflow tract obstruction
Prognosis
• Children who are diagnosed at less than 14 years of age poor prognosis and high incidence of sudden death; 71% are asymptomatic
• Adults : better prognosis but have a higher mortality rate than general population
• Progressive cardiac failure with cardiac dilatation
•
Management
• Drug management– Avoid vasodilators because it worsen the gradient
obstruction. HOCM patient should not receive nitrates– Avoid drugs for systolic heart failure (3 D’s): Digoxin,
Ace-inhibitors (vaso-Dilators) and Diuretics are contra-indicated for the obstructive type of hypertrophic cardiomyopathy
– Beta-blockers are used, negative inotropic effect acts to decrease the contractility of the hypertrophied septum and reduce the outflow tract obstruction
Management
• Drug management– Anti-arrhythmia is given for ventricular and
atrial arrhythmias. – ICD (implantable cardioverter defibrillator)
should be placed for any patient at risk for sudden death
Management
• Dual chamber pacing– This reduces the outflow tract gradient by pacing the
RV apex and therefore altering the pattern of septal motion
• Surgery– Only used when all other treatments have failed– Myomectomy on the abnormal septum– Occluding the septal artery (new catheter technique to
infarct the septum)– Injecting a small amount of alcohol
Recommendations for Athletic Activity
• Avoid most competitive sports (whether or not symptoms and/or outflow gradient are present)
• Low-risk older patients (>30 yrs) may participate in athletic activity if all of the following are absent
Recommendations for Athletic Activity
• Low-risk older patients (>30 yrs) may participate in athletic activity if all of the following are absent– ventricular tachycardia on Holter monitoring– family history of sudden death due to HCM– history of syncope or episode of impaired consciousness– severe hemodynamic abnormalities, gradient 50 mmHg– exercise induced hypotension– moderate or severe mitral regurgitation– enlarged left atrium (50 mm)– paroxysmal atrial fibrillation– abnormal myocardial perfusion
Restrictive cardiomyopathy
Restrictive Cardiomyopathy
• Least common in developed countries• Much more common in third world countries in Africa
and South East Asia due to increased fibrosis of the endocardium secondary to infection
• The ventricular walls are excessively stiff and impede ventricular filling increased end diastolic pressure. The systolic function on the ventricle is often normal
Possible causes of restrictive cardiomyopathy
I. Infiltrative diseases
A. Amyloidosis
B. Hemochromatosis
C. Sarcoidosis
D. Glycogen storage disease (in pediatric age group)
I. Endocardial – Obliterative disease
A. Endomyocardial
B. Fibrosis
With eosinophilia (Loeffler’s syndrome)
With eosinophilia
Possible causes of restrictive cardiomyopathy
III. Interstitial disease
A. Idiopathic
B. Familial
C. Radiation-induced
D. Chronic allograft rejection
Clinical features of restrictive cardiomyopathy
• Most commonly present as right sided heart failure symptoms– Dyspnea, paroxysmal nocturnal dyspnea, and fatigue
due to poor cardiac output– Peripheral edema and ascites– Elevated jugular venous pressure with a positive
Kussmaul’s sign (increase in jugular venous pressure during inspiration)
– Up to one-third of patients: thromboembolic complications or conduction disturbances
Pathophysiology
• Diastolic dysfunction in diastolic heart failure: increasing stiffness of the myocardium causes severe diastolic non-compliance of both ventricles. Thus, LV and RV filling pressure are above normal causing pulmonary congestion and right-sided failure
• As the disease progresses, systolic function is also compromised
Restriction vs Constriction
History can provide important clues• Constrictive pericarditis
– history of TB, trauma, pericarditis, collagen vascular disorders
• Restrictive cardiomyopathy– amyloidosis, hemochromatosis
• Mixed– mediastinal radiation, cardiac surgery
Diagnostic tests
1. ECG: non specific changes, QRS voltages may be low because of the infiltrative process
2. Chest X-ray: may show dilated left atrium and right atrium; pulmonary venous congestion, pleural effusion
Diagnostic tests
3. Echocardiography:
May show LV hypertrophy and RV
hypertrophy but with no dilatation of
the ventricles. Both atria are frequently
dilated due to increase stiffness in the
ventricles. Doppler signs of diastolic
dysfunction suggestive of reduced
ventricular compliance
Diagnostic tests
4. Cardiac catheterization: frequently not necessary
5. Cardiac biopsy: Low yield but may be useful in selected diseases with specific treatment (e.g hemochromatosis, sarcoidosis)
Low voltage ECG’s with LV hypertrophy by echocardiography is suggestive of restrictive cardiomyopathy
Management
• Presentation is similar to that of constrictive pericarditis. Often a history of pericarditis, TB, radiation or surgery will favor constrictive pericarditis.
• The condition usually progresses towards death relatively quickly
• Most patients do not survive 10 years after diagnosis.
Treatment
• No satisfactory medical therapy• Drug therapy must be used with caution
– diuretics for extremely high filling prssures– vasodilators may decrease filling pressure– Ace-inhibitors and calcium channel blockers are of
uncertain benefit.– ? Calcium channel blockers to improve diastolic
compliance– digitalis and other inotropic agents are not indicated
Prognosis
• Poor prognosis for patients with amyloidosis
• Generally declining to zero survival at 4 years.
• For idiopathic restrictive cardiomyopathy, 10 year survival is about 50%