A good presentation about cardiomyopathy

1. Cardiomyopathy
INTERNAL MEDICINE DEPARTMENT
Presenter: Dr. Feisal D Kahie (S.H.O, Resident at KIU-TH)
Facilitator: Dr. Ryanmugwiza Prosper Muhammad
(HOD of Internal Medicine )
1

2. Outline
 Overview
 Definition
 Classification
 Dilated cardiomypathy
 Hypertrophic cardiomyopathy
 Restrictive cardiomyopathy
 Arrhythmogenic right ventricular cardiomyopathy
 References
2

3. Overview
Definition
 Cardiomyopathies are diseases of heart muscle.
 cardiomyopathy is a myocardial disorder in which the heart
muscle is structurally and functionally abnormal in the
absence of coronary artery disease, hypertension, valvular
disease, and congenital heart disease sufficient to explain the
observed myocardial abnormality.
3

4.  Although some have defined cardiomyopathy to include myocardial
disease caused by known cardiovascular causes (such as
hypertension, ischemic heart disease, or valvular disease), current
major society definitions of cardiomyopathy exclude heart disease
secondary to such cardiovascular disorders.
4

5. CLASSIFICATION
 In 1980, the World Health Organization (WHO) defined
cardiomyopathies as "heart muscle diseases of unknown
cause" to distinguish cardiomyopathy from cardiac dysfunction
due to known cardiovascular entities such as hypertension,
ischemic heart disease, or valvular disease.
5

6. 6
 In clinical practice, however, the term "cardiomyopathy"
has also been applied to diseases of known
cardiovascular cause (eg, "ischemic cardiomyopathy"
and "hypertensive cardiomyopathy").

7.  1995 WHO/International Society and Federation of
Cardiology (ISFC) Task Force on the Definition and
Classification of the Cardiomyopathies expanded the
classification to include all diseases affecting heart muscle
and to take into consideration etiology as well as the
dominant pathophysiology .
7

8.  They were classified according to anatomy and physiology into the
following types, each of which has multiple different causes:
 Dilated cardiomyopathy (DCM)
 Hypertrophic cardiomyopathy (HCM)
 Restrictive cardiomyopathy (RCM)
 Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D)
 Unclassified cardiomyopathies
8

9.  Cardiomyopathy Classification
9
WHO Classification
Anatomical & physiological
classification.
1. Dilated
• Enlarged
• Systolic dysfunction
2. Hypertrophic
• Thickened
• Diastolic dysfunction
3. Restrictive
• Diastolic dysfunction
4. Arrhythmogenic RV dysplasia
• Fibrofatty replacement
5. Unclassified
• Fibroelastosis
• LV noncompaction

10. Dilated cardiomyopathies (DCM)
 DCM is characterized by dilation
and impaired contraction of one or
both ventricles.
 The dilation often becomes severe
and is invariably accompanied by
an increase in total cardiac mass
(hypertrophy).
 Affected patients have impaired
systolic function and clinical
presentation is usually with features
of HF. 10

11. Dilated cardiomyopathies (DCM)
 The wall becomes thin and stretched, compromising cardiac
contractility poor left ventricular function(systolic dysfunction).
 Usually all chambers are enlarged
 Most common cardiomyopathy in Uganda
 Genetic causes and acquired
 Childhood /fourth and fifth decades of life.
11

12. Epidemiology
12
 One of the most common causes of heart failure and the
most common indication for heart transplantation worldwide.
 The incidence of DCM has been estimated to be five to eight
cases per 100,000 population, with a prevalence of 36 per
100,000.
 Evaluation with ECG and echocardiogram of 767 relatives of
189 probands with DCM revealed unrecognized disease in
4.6 percent of relatives.

13. Epidemiology
 Also, LV systolic dysfunction may be more prevalent than
previously estimated as suggested by a study finding that 14
percent of the middle-aged and older adult population have
asymptomatic left ventricular (LV) systolic dysfunction.
13

14. 14
Etiology of Dilated Cardiomyopathy

15. Pathophysiology of DCM

16. 16
Clinical presentation
 Heart failure symptoms
 Dyspnoea
 Fatigue
 Angina
 Pulmonary congestion

17. Clinical presentation
 Complications related to DCM
 Arrhythmias (atrial fibrillation, supraventricular and
ventricular arrhythmias)
 Thromboembolic events due to dilated cardiac
chambers and haemostasis.
 Thorough family history and pedigree
 Hx of DCM, or who have suffered from a
thromboembolic event or sudden cardiac death before
the age of 30 years.
6/5/2023 17

18.  Examination findings
 Displaced apical beat
 Murmur of mitral regurgitation
 Features of systolic heart failure
 Edema
 Ascites
 ↑JVP
Clinical presentation

19.  Echocardiography -2DE
 Left ventricular end diastolic dimension (LVEDD) > 117% predicted value corrected for
age and body surface area.
 Fractional shortening (FS) <25% and or
 Ejection fraction (EF). <0.4
19
Investigations

20. 20
Investigations

21.  Electrocardiography
 Prolonged atrioventricular conduction
 Bundle branch blocks, and/or atrial or ventricular
tachyarrhythmias.
 CXR-Cardiomegaly +other HF features
 Cardiac MRI
21
Investigations

22. Investigations …
 Viral serology
 Acute myocarditis.
 Titres of neutralising antibodies (IgM Ab) four
times above normal, over a period of 2–4 week
 HIV serology

23. Treatment

24. Definition
 A hypertrophied, nondilated left ventricle in the absence of
another cardiac, systemic, metabolic, or syndromic
disease.
 Nonobstructive HCM: Hypertrophic cardiomyopathy without
obstruction of the left ventricular outflow tract (LVOT)
 Hypertrophic obstructive cardiomyopathy (HOCM): HCM
with left ventricular outflow tract obstruction (LVOTO) that is
dynamic
24
HYPERTROPHIC CARDIOMYOPATHY (HCM)

25.  Most often (60 to 70 percent) caused by mutations in one of
several sarcomere genes which encode components of the
contractile apparatus
 Asymmetric left ventricular (LV) hypertrophy -wide array of
clinical manifestations and hemodynamic abnormalities
(with/without left ventricular outflow tract obstruction)
25
HYPERTROPHIC CARDIOMYOPATHY (HCM)

26.  Second most common cardiomyopathy
 Two types are distinguished:
 Obstructive type/hypertrophic obstructive cardiomyopathy (HOC
M): ∼ 70% of cases
 Nonobstructive type: ∼ 30% of cases
 Alongside myocarditis, HCM is one of the most frequent
causes of sudden cardiac death in young patients,
especially young athletes.
26
Epidemiology

27. 27
Epidemiology -SCD in young athletes

28. PATHOLOGY OF
HYPERTROPHIC
CARDIOMYOPATHY

29. Myocyte disarray
6/5/2023 29

30.  HCM is a genetic condition characterized by otherwise
unexplained left ventricular hypertrophy.
 Most common hereditary heart disease
 Autosomal dominant inheritance with varying penetrance
 Most commonly caused by mutations of
the sarcomeric protein genes (e.g., myosin heavy
chain, myosin binding protein C) → disorganization
of myocyte architecture characterized by myofibrillar disarray
and fibrosis.
 80% -mutation in either MYH7 or MYBPC3
30
Etiology

31. Aetiology -Genetics
6/5/2023 31

32.  Large LV septum
→ LV outflow
tract is narrow
 Anterior leaflet of
mitral valve is
now closer to LV
septum
 During systole
anterior leaflet of
the mitral valve
may obstruct LV
outflow and
redirect it to
mitral regurge
June 5, 2023 32
Left ventricular outflow obstruction In
hypertrophic CM

33.  HCM is characterized by hypertrophy of the left
ventricle ; most commonly occurs with asymmetrical septal
involvement, which leads to diastolic
dysfunction (impaired left ventricular relaxation and filling)
→ reduced systolic output volume → reduced peripheral
and myocardial perfusion. → cardiac arrhythmia and/or heart
failure and increased risk of sudden cardiac death.
33
Pathophysiology of Hypertrophic Cardiaomyopathy

34.  Typical features include:
 Increased LV wall thickness with septal predominance , no
dilation of left ventricle
 Myofibrillar disarray, interstitial fibrosis, and myocyte
hypertrophy
 Concentric hypertrophy: a form of cardiac
remodeling characterized by parallel duplication
of sarcomeres that leads to thickening of the ventricular wall.
34
Nonobstructive and obstructive HCM

35.  In HOCM, concentric hypertrophy is caused by genetic mutations.
 Concentric hypertrophy can also occur secondary to the following
diseases, then potentially mimicking HCM:
 Hypertension and aortic valve stenosis (due to chronic pressure
and volumeoverload): Chronic hypertension → increased afterload → incre
ased myocardial wall tension → changes in myocardial gene expression
→ sarcomeres laid down in parallel → increased left ventricular thickness
→ decreased left ventricular size → diastolic dysfunction
 Storage disorders (e.g., Fabry disease, amyloidosis) and hereditary
syndromes (e.g., Friedreich ataxia, Noonan syndrome)
35
Nonobstructive and obstructive HCM

36.  Pathomechanism:
o LVOT obstruction → increased LV systolic pressure
→ prolongation of ventricular relaxation
→ increased LV diastolic pressure → exacerbation of
HCM with further reduction of cardiac output.
36
Hypertrophic obstructive cardiomyopathy

37.  Symptoms:
 Frequently asymptomatic (especially the nonobstructive
type)
 Exertional dyspnea
 Angina pectoris
 Dizziness, lightheadedness, syncope
 Palpitations, cardiac arrhythmias
 Sudden cardiac death (particularly during or after intense physical
activity).
37
Clinical features

38.  Physical examination
 Systolic ejection murmur (crescendo-
decrescendo)
 Increases with Valsalva maneuver
 Decreases with:
 Hand grip, squatting, or passive leg elevation
 Drugs that decrease cardiac contractility (e.g., beta blockers)
38
Clinical features

39.  Possible holosystolic murmur from mitral regurgitation
 Sustained apex beat
 S4 gallop
 Paradoxical split of S2
 Pulsus bisferiens: LV outflow obstruction causes a sudden
quick rise of the pulse followed by a slower longer rise
(biphasic pulse).
39
Physical examination

40. HCM VS ATHLETE’S HEART
6/5/2023 40

41.  Echocardiography is the best initial and confirmatory test.
 Other investigations (e.g., ECG, CXR, cardiac MRI, exercise
testing, and screening for coronary artery disease or genetic
diseases) can be done on a case-by-case basis.
41
Diagnostics

42.  Both of following are required to make the
diagnosis:
 Left ventricular nondilated hypertrophy (usually ≥
15 mm in adults)
 Absence of other cardiac or systemic diseases that
could explain hypertrophy (e.g., long-
standing hypertension or aortic stenosis).
42
Diagnostic criteria

43.  Findings in patients with HCM Wall thickness
 Asymmetrically thickened left ventricular wall, (≥ 15
mm), typically involving the septum
 LV wall thickness ≥ 30 mm is associated with a high risk
of sudden death.
43
Transthoracic echocardiography with Doppler

44.  Outflow tract abnormalities
 Systolic anterior motion of the mitral valve
 Mitral regurgitation
 ↑ LVOT pressure gradient via Doppler echocardiography.
 Other findings
 Left atrial enlargement
 Systolic function typically normal
 Diastolic dysfunction
44
Transthoracic echocardiography with Doppler

45.  Findings more specific to HOCM
 Asymmetrically thickened interventricular septum
 Dynamic LVOT obstruction due to contact
between the septum and mitral
valve during systole.
45
Transthoracic echocardiography with Doppler

46. 46

47.  Indication: all patients with suspected HCM
 Classic findings: commonly seen in obstructive
HCM
 ECG signs of LVH ( Sokolow-Lyon criteria )
 Deep Q waves, particularly in the inferior (II, III, and
aVF) and lateral (I, aVL, V4–6) leads
 Giant inverted T waves in the precordial leads.
47
ECG findings in HCM

48.  Other supportive findings
 Nonspecific ST segment and T-wave changes
 P wave changes indicating left atrial
enlargement (e.g., P mitrale)
 LBBB
 Associated dysrhythmias: Ventricular
tachycardia, atrial fibrillation, or atrial flutter.
48
ECG findings in HCM

49.  Indication: considered for patients presenting
with dyspnea or chest pain of unknown etiology
 Suggestive findings
 The heart can be normal or enlarged.
 Left atrial enlargement is commonly seen in mitral regurgitation.
 Possibly signs of pulmonary congestion (e.g., pulmonary
edema) in severe forms of CHF.
49
Chest x-ray

50.  Provocation tests (e.g., exercise testing) are
obligatory if no obstruction is discernible at rest.
 Exercise echocardiography
 Findings: LVOT obstruction and/or mitral regurgitation.
50
Exercise testing

51.  Treadmill exercise testing
 Findings
 Clinical observation for development of symptoms
(e.g., dyspnea, palpitations)
 Blood pressure monitoring: hypotension
 ECG tracings with arrhythmias and/or signs of ischemia.
51
Exercise testing

52.  Advantages
 Better visualization of segmental left ventricular
hypertrophy located in the anterolateral wall or apex compared
to echocardiography
 Better detection of apical aneurysms compared
to echocardiography
 Identification of myocardial fibrosis with late gadolinium
enhancement (LGE).
52
Cardiac MRI (cMRI)

53.  Genetic testing and family screening: All patients should be assessed for
familial inheritance and receive genetic counseling. Indications for genetic
testing
 Considered reasonable in index patients to identify first-degree family members who may
be at risk of HCM
 Index patients with an atypical presentation or for whom another genetic cause is
suspected
 First-degree relatives: Screen by clinical assessment (with or without genetic
testing).
 Patients who undergo genetic testing should receive genetic counseling from
someone who is knowledgeable about genetic cardiovascular diseases.
53
Additional studies

54.  General approach
 All patients
 Lifestyle changes
 Avoidance of dehydration
 Maintaining a healthy body weight
 Avoidance of excessive alcohol intake
 Avoidance of strenuous exercise and situations that will likely
cause vasodilation (e.g., environmental factors such as high
temperatures)
54
Treatment

55. An AICD is considered for primary or secondary prevention of sudden
cardiac death (SCD) in patients who are at high risk.
 Absolute indication: known prior history of ventricular
fibrillation, sustained ventricular tachycardia, or cardiac arrest
 Relative indications
 Syncope of unknown cause
 Family history of SCD in a first-degree relative
 LV wall thickness ≥ 30 mm
55
Automated implantable cardioverter
defibrillator (AICD)

56.  Initial therapy: for all symptomatic patients with
obstructive or nonobstructive HCM
 First-line: Beta blockers (e.g., propranolol 40–80 mg
PO every 8–12 hours OR atenolol 25–150 mg PO once
daily OR nadolol 40–80 mg PO once or twice daily )
 Titrate to goal resting heart rate < 60–65/minute
56
Recommended pharmacotherapy

57.  Second-line: Nondihydropyridine CCBs
 Consider in patients who do not tolerate or respond to beta
blockers
 Verapamil (40 mg PO every 8 hours; titrated up to 480 mg/day) is
preferred, but should be avoided if there
is hypotension or dyspnea at rest.
 Diltiazem (60 mg PO every 8 hours; titrated up to 360 mg/day) may
be considered in patients with an intolerance or
contraindications to verapamil.
57
Recommended pharmacotherapy

58.  Additional therapy: to consider adding to beta-
blocker or CCB if symptoms are persistent Obstructive
HCM: Disopyramide (controlled release 200–250 mg
PO twice daily; titrated up to 400–600 mg/day)
 Obstructive HCM, or nonobstructive HCM with LVEF > 50%):
Oral diuretics, e.g., furosemide ( 20–40 mg PO once daily;
titrate as needed to a single dose once or twice daily)
58
Recommended pharmacotherapy

59.  Medications to be avoided in LVOT obstruction
 High-dose diuretics
 Digoxin
 Spironolactone
 ACE inhibitors and ARBs
 Dihydropyridine CCBs (e.g., nifedipine)
 Vasodilators (e.g., nitrates and PDE-5 inhibitors)
 Positive inotropes (e.g., dopamine, dobutamine, norepinephrine)
 Medication to be avoided in nonobstructive HCM
 Digoxin (except in atrial fibrillation with an LVEF ≤ 50%)
59
Pharmacotherapy to avoid

60.  Septal reduction therapy
 Dual-chamber pacemaker: Consider for patients who are
poor candidates for septal reduction therapy.
 Heart transplant: Consider in end-stage nonobstructive HCM
when LVEF ≤ 50%.
60
Invasive therapy

61.  Hypotension:
 Management typically involves fluids and vasopressors with
purely vasoconstricting effects and no inotropic effects,
e.g., phenylephrine.
 In patients with severe LVOTO who have cardiogenic
shock with pulmonary edema, vasoconstrictors may need to be
combined with beta-blockers, e.g., esmolol.
61
Complications

62.  Heart failure
 May require medications, e.g., ACEIs, that are typically avoided in uncomplicated HOCM
May require discontinuation of negative inotropic medication, e.g., nondihydropyridine
CCBs
 Atrial fibrillation Typically requires anticoagulation and either rate control or rhythm
control
 May also require medications, e.g., digoxin, that are typically avoided in uncomplicated
HCM
 Ventricular dysrhythmias
 AICD placement
 Some patients may benefit from antiarrythmic medication and radiofrequency ablation of
arrhythmogenic foci.
62
Complications

63. RESTRICTIVE CARDIOMYOPATHY
Restrictive cardiomyopathy (RCM) is a
rare type of cardiomyopathy characterized
by marked diastolic dysfunction, normal
(or near-normal) systolic function, and
normal ventricular volumes.
RCM occurs as a result
of myocardium distortion due
to proliferation of abnormal tissue or the
deposition of abnormal compounds.

64. 64
RESTRICTIVE CARDIOMYOPATHY
 Ventricular wall stiffness
 Diastolic dysfunction of non dilated ventricle,
with mildy reduced contractility (EF > 30-50% )
 Right and left atria enlargement
 Elevated end diastolic pressure

65.  Rare , 5% of all cases of cardiomyopathy (Brown K et
al,2022)
 Prevalence varies depending on regionality , ethnicity, age,
and gender.
65
Epidemiology

66.  Infiltrative cardiomyopathy
 Amyloidosis: caused by an accumulation of
abnormal proteins in the myocardium
 Sarcoidosis: secondary to deposition of granulomas in
the myocardium.
 Storage disorders
 Hereditary hemochromatosis; more commonly
causes dilated cardiomyopathy
66
Etiology

67.  Endomyocardial disorders
 Hypereosinophilia (Löffler endocarditis): eosinophilic
infiltration of the myocardium
 Endocardial fibroelastosis: a diffuse thickening of the left
ventricle endocardium from the proliferation of fibrous and
elastic tissue
 Most commonly occurs in the first two years of life
 Iatrogenic
 Radiotherapy to the chest
67
Etiology

68. 68
Pathophysiology of Restrictive Cardiomyopathy
 Due to infiltration of abnormal substances between myocytes, storage of abnormal
metabolic products within myocytes, or fibrotic injury

69.  Symptoms and signs
 Exercise intolerance
 Edema ,abdominal discomfort and ascites
 Apical impulse –displaced
 S4
69
Clinical presentation

70.  Atrial fibrillation –common
 Sudden cardiac arrest
 Distended JVP- inspiration (positive Kussmaul’s sign).
 Extracardiac manifestations - carpal tunnel, in
amyloidosis or bilateral hilar infiltrates in sarcoidosis
 Hemochromatosis -classic bronze skin, cirrhosis,
arthralgias, and endocrinopathies -diabetes mellitus.
70
Clinical presentation

71.  ECG
 Low -to-normal voltage in the QRS complex despite thickened cardiac muscle in the absence
of valvular or hypertensive disease may lead one to suspect amyloidosis
 Sinus tachycardia, atrial fibrillation, sinus bradycardia if SA node infiltrated
 Complex ventricular arrhythmias : are poor prognostic sign
 Q waves : pseudo infarct from fibrosis
 BBB, AVB
71
Investigations

72.  ECHO- RCM VS Constrictive pericarditis
 Normal left ventricular ejection fraction
 Elevated left ventricular filling pressure
 Strain imaging can show impaired longitudinal contraction despite
the normal ejection fraction
 dilated atria and myocardial hypertrophy.
 In amyloidosis an unusually bright echo pattern from the myocardium
may be observed
72
Investigations …

73.  CARDIAC MRI-gadolinium enhancement pattern is highly
suggestive of amyloid (RCM VS constrictive pericarditis)-
pericardial thickening
 Endomyocardial biopsy-gold standard for the diagnosis of
cardiac amyloidosis. Fat pad aspiration is positive in about
50% of cases.
73
Investigations …

74.  Constrictive pericarditis
 Acute or chronic heart failure
 Hypertensive heart disease
 Hypertrophic cardiomyopathy
 Acute or chronic pericarditis
74
Differential diagnosis

75. 75
Restrictive cardiomyopathy versus constrictive
pericarditis

76. 76
Treatment

77.  Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is
a genetically determined heart muscle disorder
characterized histologically by loss of cardiomyocytes with
replacement by fibrous or fibrofatty tissue in the right
ventricular myocardium; clinically by ventricular
arrhythmias, heart failure, and sudden death; and
histologically by cardiomyocyte loss and replacement.
77
Arrhythmogenic Right Ventricular Cardiomyopathy

78.  The disease is seen in patients of European,
African, and Asian descent, with an estimated
prevalence between 1 in 1000 and 1 in 5000
adults.
78
Epidemiology

79.  The natural history of ARVC is divided into phases:
 Early phase:- patients are usually asymptomatic, but
resuscitated cardiac arrest and sudden death may be the
initial manifestations, particularly in adolescents and young
adults.
 Arrhythmic phase:- usually begins in adolescents and young
adults, patients note palpitations or syncope.

79
Clinical Manifestations

80.  Symptomatic sustained arrhythmias: are usually
accompanied by ECG, morphologic, and functional
abnormalities of the right ventricle sufficient to fulfill
diagnostic criteria for ARVC.
 Advanced phase : A small proportion of patients progress
to a more advanced phase, which is characterized by
diffuse right or left ventricular impairment that requires
conventional treatment for heart failure.
80
Clinical Manifestations

81.  Clinical evaluation includes inquiry for symptoms of
arrhythmia
o syncope
o Presyncope
o sustained palpitation
 A family history of premature cardiac symptoms or sudden
death.

81
Diagnosis

82. 82

83. References
• UpToDate 2023
• Amboss 2023
• Lancet 2017
83