Cardiomyopathies

Heart disease resulting from a primary

abnormality in myocardium
most causes are idiopathic
a) most likely genetic defects
Types:
a) Dilated
i) congestive
ii) most common (~90%)
b) Hypertrophic
c) Restrictive (lease common)
1.- Dilated Cardiomyopathy (DCM)

Progressive cardiac dilation

a) systolic dysfunction
~35% of patients have genetic form
a) primary
large variety of acquired DCM (2 ) o

a) toxicities (e.g., alcohol)

b) myocarditis (inflammations)
c) pregnancy
d) unknown (idiopathic DCM)
i) likely to be genetic
 Myocarditis (inflammatory)
a) viral in nature (most often)
i) coxsackievirus A and B
ii) other enteroviruses
- cleave dystrophin (later)
b) progression from myocarditis to
DCM in some patients
Alcohol (alcoholic cardiomyopathy)
a) alcohol toxicity or 2o nutritional
disturbances may be cause
b) ethanol metabolite acetaldehyde-
have direct toxic effect on heart
 i) however, no distinguishing
features from DCM

Toxicity
a) chemotherapeutic agents
i) doxorubicin (Adriamycin)
ii) Cobalt

Pregnancy-associated
a) peripartum cardiomyopathy
i) late in pregnancy or weeks to
months postpartum
 ii) poorly understood
- hypertension
- volume overload
- nutritional deficiency
- etc. ?

Genetic Influences
a) ~ 35% of patients have familial
occurrence
b) autosomal dominant predominates
c) affects on cytoskeleton, oxidative
Phos., fatty acid oxidation, etc
d) Mitochondrial defects most
frequently cause DCM in children
e) X-linked induces DCM in teenagers
i) rapidly progressive
ii) linked to gene for
dystrophin
- cytoskeleton protein
iii) diseases with dystrophin
mutations (myopathies such
as Duchenne and Becker
muscular dystrophy) present
with DCM
f) Clinical:
i) common at 20-50 yrs
ii) progress slowly
- shortness of breath
- easy fatigue
- poor exertional capacity
iii) may rapidly slip in
decompensation
- EF < 25%
- 50% die within 2 yrs
- 25% survive > 5 yrs.
iv) hypo contracting
 Arrhythmogenic Right Ventricular
Cardiomyopathy (right ventricular
dysplasia)
a) associated with right sided heart
failure
b) various rhythm disturbances
i) Ventricular tachycardia
c) right ventricular thinning
i) due to loss of myocytes
2.- Hypertrophic Cardiomyopathy(HCM)
Is a genetic disease
other names:
a) idiopathichypertrophic subaortic
stenosis
b) hypertrophic obstructive
cardiomyopathy
Characteristics:
a) hypertrophy (mainly septal vs.
free wall) 1:3 ratio)
b) abnormal diastolic filling
c) hyper contracting
 Primary diastolic dysfunction
Systolic function is preserved
2 diseases which must be
differentiated from HCM are:
a) amyloidosis
b) hypertensive heart disease
Most cases familial
a) autosomal dominant
b) several gene mutations found
i) see fig. 12-35
- -myosin heavy chain is
most common
 - MYBP-C and troponinT are
next in frequency
- these 3 genes account for
~80% of all cases of HCM
c) these gene mutations mainly
effect proteins of sarcomere

Clinical:
a) compliance
b) chamber size
c) Vs
d) diastolic filling
e) ~ 25% have obstruction to
ventricular outflow
i) systolic ejection murmur
f) focal cardiac ischemia and angina
g) major problems:
i) atrial fibrillation
ii) mural thrombus formation
iii) embolization
iv) IE
h) one of most common causes of
death in young athletes !!
 DIASTOLE SYSTOLE

An illustration of the obstructive form of HCM during relaxation (diastole,

left) and during active contraction (systole, right). The thickened septum and
the mitral valve leaflets come in close proximity, effectively narrowing the
pathway that blood must travel to get out of the heart. Additionally, the
forces on the mitral valve can lead to variable degrees of backward leakage
(regurgitation) that can also lead to symptoms.
3.- Restrictive Cardiomyopathy
Impairs diastolic function
a) primary in compliance
- impaired diastolic filling
least common of the CM
Ventricles approximately normal size
Systolic function unaffected
Biatrial dilation commonly seen
Myocardial fibrosis
a) radiation
b) amyloidosis
c) sarcoidosis
d) metastatic carcinoma
e) sarcoid granulomas
f) any factor which increases
endomyocardial fibrosis
 Primary Cardiac Tumors

BENIGN MALIGNANT
Myxoma Rhabdomyosarcoma
Lipoma Mesothelioma
Hemangioma Fibrosarcoma
Mesothelioma Lymphoma
Fibroma Osteosarcoma
Teratoma Angiosarcoma
Rhabdomyoma Liposarcoma
Neurofibroma Leiomyosarcoma
 Myxoma
a) most common 1o tumor of heart
i) most within atria (~90%)
ii) left-to-right prevalence (4:1)
b) benign
c) almost always single neoplasm
d) 10% familial (i.e., Carney
syndrome)
e) Clinical:
i) ball-Valve obstruction
ii) constitutional effects
iii) embolization
 Rhabdomyomas
a) most common cardiac tumor in
children
i) often diagnosed within 1st year
of life
- obstructive disease
Non Cardiac Neoplasms
a) most common are metastases from
i) lung
ii) breast
iii) melanomas
iv) leukemias and lymphomas
b) clinical:
i) pericardial spread
ii) obstruction (i.e., filling)
iii) cardiomyopathy via radiation