Cardiomyopathies

• Cardiomyopathies are primary diseases of the myocardium,

which are classified according to their effects on cardiac structure
and function. They can be inherited or be caused by infections or
exposure to toxins. In some cases no cause is identified.
 Cardiomyopathies

 Types of cardiomyopathy include:

1. Dilated cardiomyopathy.
2. Hypertrophic cardiomyopathy
3. Restrictive cardiomyopathy.
4. Arrhythmogenic right ventricular dysplasia.
5. Takotsubo cardiomyopathy (broken heart syndrome).

Pathogenesis, Clinical features, Investigations, Management

Systolic dysfunction Diastolic dysfunction Diastolic dysfunction
Dilated cardiomyopathy
 DCM

 Men are affected more than twice as often as women

 The most common type of cardiomyopathies (90%)

 More common in African-Americans than in

Caucasians
 Causes of DCM

 The term ‘dilated cardiomyopathy’ encompasses a heterogeneous group of

conditions:

 Often idiopathic or familial: At least 25% of cases are inherited as an

autosomal dominant trait. eg, due to mutation of TTN gene encoding the
sarcomeric protein titin).

 ABCCCD and four other things:

Chronic Alcohol abuse, wet Beriberi, Coxsackie B viral myocarditis, chronic
Cocaine use, Chagas disease, Doxorubicin toxicity.

 Systemic conditions (eg, hemochromatosis, sarcoidosis, thyrotoxicosis,

peripartum cardiomyopathy)
Coxsackie B viral myocarditis
Peripartum Cardiomyopathy
 Clinical feaatures of DCM

 Most patients present with heart failure

or are found to have the condition during
routine investigation.

Findings: HF, S3, systolic regurgitant

murmur, dilated heart on echocardiogram,
balloon appearance of heart on CXR.
 Investigations

 Echocardiography and cardiac MRI are the most useful investigations:

shows left ventricular dilatation with normal or thinned walls and
reduced ejection fraction.

 Cardiac catheterization and coronary angiography are often performed

to exclude ischemic heart disease.
 Investigations

 Although ECG changes are common, they are non-specific:

The electrocardiogram often shows sinus tachycardia or atrial
fibrillation, ventricular arrhythmias, left atrial enlargement, and sometimes
intraventricular conduction defects and low voltage.

When left bundle-branch block(LBBB) is accompanied by right axis

deviation(RAD), the rare combination is considered to be highly suggestive
of dilated or congestive cardiomyopathy
 Investigations

 Genetic testing is indicated if more than one family

member is diagnosed with the condition: Genetic
testing can be important, since one study has shown that
gene mutations in the TTN gene (which codes for a protein
called titin) are responsible for "approximately 25% of
familial cases of idiopathic dilated cardiomyopathy and
18% of sporadic cases
 Management

 Drug therapy can slow down progression and in some cases even improve the
heart condition. Standard therapy may include salt restriction, ACE
inhibitors, diuretics, and beta blockers

 Artificial pacemakers may be used in patients with intraventricular

conduction delay, and implantable cardioverter-defibrillators in those at
risk of arrhythmia. These forms of treatment have been shown to prevent
sudden cardiac death, improve symptoms, and reduce hospitalization in
patients with systolic heart failure.

 In patients with advanced disease who are refractory to medical therapy, heart
transplantation may be considered.
 Hypertrophic Cardiomyopathy

 60–70% of cases are familial, autosomal dominant (most commonly

due to mutations in genes encoding sarcomeric proteins, such as
myosin binding protein C and β-myosin heavy chain and
Troponin mutations).
 Marked ventricular concentric hypertrophy (sarcomeres added in
parallel) , often septal predomince.

Hypertrophic cardiomyopathy: Hypertrophic cardiomyopathy:

Apical hypertrophic
asymmetric septal hypertrophy (ASH) concentric hypertrophy.
cardiomyopathy
 Clinical feaatures of HCM

Many people are asymptomatic or mildly symptomatic.

Shortness of breath is largely due to increased stiffness of

the left ventricle (LV), which impairs filling of the
ventricles, but also leads to elevated pressure in the left
ventricle and left atrium, causing back pressure and
interstitial congestion in the lungs. Symptoms are not
closely related to the presence or severity of an outflow
tract gradient
 HOCM

 Effort-related symptoms, such as angina,

breathlessness, arrhythmia and sudden death, are
the dominant clinical presentations.
Physiology of HOCM—asymmetric septal
hypertrophy and systolic anterior motion of
mitral valve, outflow obstruction, dyspnea
and possible syncope

Findings: S4, systolic murmur. May see

mitral regurgitation due to impaired mitral
valve closure.
 Investigations

 Echocardiography is the investigation of choice and is usually diagnostic.

Sometimes the diagnosis is more difficult when another cause of left ventricular
hypertrophy is present but the degree of hypertrophy in hypertrophic
cardiomyopathy is usually greater than in physiological hypertrophy and the
pattern is asymmetrical.

 The ECG is abnormal and shows features of left ventricular hypertrophy with a
wide variety of often bizarre abnormalities, including deep T-wave inversion.

 Genetic testing can be performed and is helpful in screening relatives of

affected individuals.

 Outflow tract obstruction can be improved by partial surgical resection

(myectomy) or by iatrogenic infarction of the basal septum (septal ablation)
using a catheter-delivered alcohol solution. An ICD should be considered in
patients with clinical risk factors for sudden death
 Management

 cessation of high-intensity athletics

 Use of β-blocker or non-dihydropyridine Ca2+ channel blockers (eg,

verapamil).

 Outflow tract obstruction can be improved by partial surgical resection

(myectomy) or by iatrogenic infarction of the basal septum (septal
ablation) using a catheter-delivered alcohol solution.

 An ICD should be considered in patients with clinical risk factors for

sudden death

 Digoxin and vasodilators may increase outflow tract obstruction and

should be avoided.
 Reestrictive Cardiomyopathy

 Restrictive cardiomyopathy (RCM) is a form

of cardiomyopathy in which the walls of the heart are
rigid (but not thickened). Thus the heart is restricted
from stretching and filling with blood properly. It is
the least common of the three original subtypes of
cardiomyopathy
Pathophysiology
Clinical features
Causes
 (Puppy LEASH).

 Postradiation fibrosis, Loffler endocarditis,

Endocardial fibroelastosis (thick fibroelastic tissue in
endocardium of young children), Amyloidosis,
Sarcoidosis, Hemochromatosis
(although dilated cardiomyopathy is more common)
 Investigations

 Echocardiography

 ECG

 Look for the underlying causes

 Constrictive Pericarditis

 elevated jugular venous pressure with hepatojugular

reflux, Kussmaul's sign (lack of decrease or an
increase in jugular venous pressure on
inspiration), pericardial knock, and pericardial
calcifications on chest radiograph.
Takustubo Cardiomyopathy
 Takutsubo Cardiomyopathy

 Postmenopausal
Stress-induced women
(takotsubo) and it is
typically associate
cardiomyopathy
•Postmenopausal woman
with
Risk high catecholamine surge
factors that is associated with
•Recent physical or emotional stressor
stress •Chest pain mimicking myocardial
infarction
•Decompensated heart failure
Clinical features •Moderate troponin elevation
•ECG: ischemic changes in precordial
leads(ST elevation and T wave inversion
in anterior leads)
•Catheterization: no obstructive CAD
Diagnosis •Echo: LV apical hypokinesis, basilar
hyperkinesis
•Resolves in several weeks with
Treatment
supportive care (2-4 weeks)