Post on 23-Dec-2015
Cardiomyopathies
By:Dawit Ayele(MD,Internist)
a group of diseases that affect the heart muscle itself and are not the result of hypertension , congenital, valvular , coronary, or pericardial abnormalities
Definition
based on LV cavity size, wall thickness, and systolic contraction
dilated (myocyte necrosis, profound dilation, and systolic dysfunction),
hypertrophic(disproportionate septal thickening, obstructive or non-obstructive), or
restrictive (generalized wall thickening with both systolic and diastolic impairment)
Classification
Is mainly due to Prolonged, uninterrupted biomechanical overload
is characterized by eccentric hypertrophy(dilatation) , loss of cardiac contractile function(hypokinesis), and loss of cardiomyocytes due to apoptosis.
Dilated Cardiomyopathy
Prevalence is increasing
About 1 in 3 cases of CHF in the west is due to dilated cardiomyopathy
More common in middle aged men & African Americans than whites
Epidemiology
Idiopathic Familial/genetic- 20-40% mostly autosomal
dominant transmission infection, (viral esp) inflammation, Toxins-(alcohol,cocain) Pregnancy Thyroid disease Chronic uncontrolled tachycardia collagen vascular disease, and musculoskeletal disease
Causes
Of left & right sided CHF
Some present with left ventricular dilatation for months to yrs before diagnosis
Vague chest pain-but typical angina is unusual
Syncope 20 to arrhythmia or systemic embolism
Clinical Manifestations
Variable degrees of cardiac enlargement Advanced disease-narrow pulse pressure -Raised JVP -S3 & S4 sounds common -Mitral & tricuspid
regurgitation may occur
Physical Examination
CXR-enlargement of cardiac silhoutte -may show evidence of pulmonary
venous hypertension -may show interstitial & alveolar edema ECG- *Echocardiography Cardiac catheterization Coronary angiography Transvenous endomyocardial biopsy-
usu.not necessary
Lab examinations
Majority esp >55 yrs die within 3 yrs of onset of sxs Target: - Avoid toxins including alcohol
-Control CHF-standard Management
-Chronic anticoagulation –prevent embolism
-Sometimes pacemaker & use of implantable cardioverter defibrillator
-cardiac transplantation for refractory cases
Treatment
is a genetic disorder characterized by disproportionate hypertrophy of the left ventricle, and occasionally of the right ventricle
HYPERTROPHYIC CARDIOMYOPATY
Prevalence ◦1:500[0.2%] in general
population(may be the most common genetically transmitted cardiac disorder)
◦0.5% in non-selected Echo referral Most common cause of Sudden cardiac
death in the young in the USA Usually in third or fourth decades
Epidemiology
Etiology
- Genetic: Familial HCM-
Autosomal dominant(50%)
Sporadic due to spontaneous mutations
- Idiopathic
Pathology(Gross)
-marked in myocardial
mass-more LV involvement in
hypertrophy-small ventricular
cavities -dilated atria &
hypertrophy (vent. filling resistance )
- MV& elongation -anomalous papilary
ms. insertion.
Pathology(Gross)-variable pattern & extent
of hypertrophy(Maj.IVS and
anterolateral free wall)
-Eventual burned-out phase in 5-10% of patient◦ Resemble DCM
Thinning, dilation, systolic dysfunction
-Clinically silent remodeling with subtle regression of hypertrophy in some patient
Pathology (microscopic)
-Myocardial hypertrophy-Gross disorganization
of muscle bundles(whorled pattern)
-Cell to cell arrangement abnormality(disarray)
-Prominent fibrosis-interstitial connective
tissue elements.-Abnormal intramural
coronary arteries(80%)
◦ Asymptomatic in majority [90%] Sudden death can be the 1st event [esp. during
extreme exertion]◦ Variable pattern and severity of symptoms
Dyspnea most common [90%] Angina [75%] Fatigue, presyncope and syncope common [not
ominous in adult] Palpitation, PND and dizziness less common
◦ Exacerbating factors Exercise Erect posture [graying out spells]
Clinical feature ---Symptoms
Physical Examination - Normal except for an S4
Asymptomatic without – pressure gradient Mild hypertrophy Apical hypertrophy
- Usually prominent in presence of pressure gradient Characteristic carotid
pulse [“spike and dome”]
Prominent “a” wave Displaced, diffuse and
abnormally forceful AI
Narrow or paradoxical S2 split
S3 may be present [no prognostic value unlike in valvular AS]
Occasionally systolic ejection click
Systolic murmurs…midsystolic and hollosystolic [associated MR]◦ Correlate with SAM and pressure gradient◦ Labile intensity and duration◦ *Influenced by maneuvers
Diastolic murmurs…..apical rumbling and high pitched AR
Physical exam…
1-ECG 2-CXR(N/cardiomegaly+/-calcification) 3-Echocardiography 4-Other imaging-radionuclide scan,cardiac
MRI(when Echo is technically inadequate) 5-Cardiac catheterization(CAD,invasive Rx) 6-Biopsy 7-Genetic analysis?
Investigation
The subcostal view from the two dimensional echocardiogram shows extremely hypertrophied and
asymmetric septum which is 35 mm in thickness.
Septal hypertrophy
Concentric hypertrophy
Guiding principles:Three important goals Symptoms alleviation Complication prevention Death risk reduction
Majority require only medical treatment At least 50% with sever symptoms improveInvasive modalities required in only 5-
10% **Myotomy-myectomy[ gold standard..70-
90%]
Management
CLINICAL ALGORITHM
Condition & medics that better be avoided - physical exertion&competitive sports
- digitalis glycosides unless A-fib or systolic dysfunction
-B-adrenergic agonist -Nifedipine -excessive use of diuretics & dehydration
Management…
Restrictive cardiomyopathy
Abnormal diastolic function
Excessively rigid ventricular walls that impede filling
Unimpaired systolic function
*Has functional resemblance with constrictive pericarditis
*Is the least common of the main 3 CMPs
Hallmark of Constrictive Pericarditis
Myocardial-Non Infiltrative:*Idiopathic CMP Familial Scleroderma -Infiltrative:*Amyloidosis *Sarcoidosis -Storage disease Hemochromatosis..
Endomyocardial -*Endomyocardial fibrosis -*Radiation -*Toxic effects of anthracyclin -eosinophilic syndrome -metastatic cancers -Drugs(Serotonin,ergotamin,busulfan..)
Classification of types according to cause
Pathologic processes
- Myocardial fibrosis
- Infiltration
- Endomyocardial scarring
- Myocyte hypertrophy in idiopathic variety
Depends on which ventricle & AV valve show predominant involvement
Thromboembolic complication ~1/3 Sx-Exercise intolerance & dyspnea are
the most prominent sxs.(inability to CO by tachycardia w/o compromising vent filling)
-Exertional chest pain -Dependent edema,ascites &
enlarged tender & often pulsatile liverpersistently venous pressure.
General Clinical Features
Distended JVP-doesn’t fall normally - +/- kussmaul’s sign *apex pulse is usually palpable
Ht sounds may be distant
S3, S4 or both
Physical Exam
ECG
CXR to R/O ddx-eg-constrictive pericarditis
Echocardiography –
Cardiac catheterization –
Endomyocardial biopsy, computed tomography or magnetic resonance imaging & others help distinguish restrictive & constrictive disease
Investigations
Echocardiography of restrictive cardiomyopathy
Endomyocardial biopsy cardiac amyloidosis
No specific therapy other than symptomatic is available for the idiopathic form of RCM
Few secondary forms may benefit from targeted treatment regimens:
Hemochromatosis: deferoxamine has been helpful in reducing myocardial iron content
Chronic anticoagulation is often recommended to reduce the risk of embolization from the heart.
The prognosis in RCM is variable: usually it is one of relentless symptomatic progression and high mortality.
Treatment & prognosis
Thanks