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CARDIOMYOPATHY (PART 2) o 4th heart sound is more common than a 3rd heart sound
Dr. Olarte | August 20, 2019 o Atrial fibrillation is common
o Elevated JVP:
 Often show rapid Y descents
OBJECTIVES
 May ↑ during respiration (Kussmaul’s sign)
I. Restrictive Cardiomyopathy
II. Hypertrophic Cardiomyopathy
 Pathophysiology:
o Rigid ventricular walls:
I. RESTRICTIVE CARDIOMYOPATHY  Impedes ventricular filling
 Least common of the physiologic triad of cardiomyopathies o Hallmark:
 Diastolic dysfunction/HF with Preserved
RESTRICTIVE Ejection Fraction
Ejection Fraction 25-50% o Late stage: systolic dysfunction
(Normal >55%) o Myocardial fibrosis, hypertrophy and infiltration
Left ventricular <60 mm (may be decreased)
diastolic dimension CAUSES OF RESTRICTIVE CARDIOMYOPATHY
(Normal <55mm) Infiltrative (between myocytes)
Left ventricular wall Normal or increased  Amyloidosis
thickness o Primary (light chain amyloid)
Atrial size Increased (both atria); may be o Familial (abnormal transthyretin)
massive o Senile (normal transthyretin or atrial peptides)
Valvular Related to endocardial involvement;  Inherited metabolic defects
regurgitation frequent mitral and tricuspid
regurgitation, rarely severe Storage (within myocytes)
Common first Exertional intolerance, fluid retention  Hemochromatosis (iron)
symptoms early , may have dominant right o Inherited metabolic defects
sided symptoms o Fabry’s disease
Congestive Right often dominates  Glycogen storage disease (II.III)
symptoms Fibrotic
Arrhythmias Ventricular uncommon except in  Radiation
sarcoidosis, conduction block in  Sleroderma
sarcoidosis and amyloidosis, Endomyocardial
Atrial fibrillation  Possibly related fibrotic diseases
o Tropical endomyocardial gibrosis
 Restrictive vs Dilated Cardiomyopathy: o Hypereosinophilic syndrome (Loffler’s endocarditis)
RESTRICTIVE DILATED  Carcinoid syndrome
Often begins as right-sided Often begins as left-sided  Radiation
HF heart failure → w/c  Drugs: serotonin, ergotamine
transforms into right-sided Overlap with other cardiomyopathies
HF  Hypertrophic cardiomyopathy/ “pseudohypertrophic”
 ‘Minimally dilated” cardiomyopathy
 Restrictive vs Constrictive myocarditis: o Early stage dilated cardiomyopathy
o Partial recovery from dilated cardiomyopathy
RESTRICTIVE CONSTRICTIVE
 Sarcoidosis
MYOCARDITIS
Idiopathic
BOTH have a diastolic dysfunction
 Familial
Involves the myocardium Involves the pericardium
*** NOT DISCUSSED
 Manifestations:
 CAUSES OF RESTRICTIVE CARDIOMYOPATHY:
o Subtle exercise intolerance & dyspnea:
A. AMYLOIDOSIS:
 Usually the 1st symptom but is often NOT recognized
 Major cause of restrictive CM
until after the clinical presentation w/ congestive
 Basic Pathology:
symptoms
o Abnormal folding of proteins called Amyloid
o Often present w/ relatively more right-sided
 2 general types of amyloidosis:
symptoms:
1° Amyloidosis 2° Amyloidosis
 Edema
 Abdominal discomfort o Assoc w/ cardiac o NOT assoc w/ cardiac
 Ascites amyloidosis amyloidosis
 Hepatomegaly
o Cardiac impulse:
 LESS displaced than in dilated cardiomyopathy
 LESS dynamic than in hypertrophic cardiomyopathy

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 TYPES of AMYLOIDOSIS: infiltration, Light chains
AL Amyloidosis o Assoc w/ AL protein: are toxic
 Amyloid Light Chain Type TTR group and 2° o Intermediate prognosis
o Proteins produced by Plasma Amyloidosis o Life expectancy: 10 years
cells
Senile Systemic o Assoc w/: Atrial Amyloidosis o Has the best prognosis
Amyloidosis  Abnormal accumulation o Life expectancy is not
of normal TTR affected
 Natriuretic peptide
folding
Familial o Assoc w/ Mutant TTR:
Amyloidosis  Transthyretrin
Atrial Amyloidosis o Due to abnormal ANP
proteins

 DIAGNOSTICS:
o ECG FINDINGS:
 Low Voltage QRS in the Limb Leads
 Q waves in V1 – V3:
- Pseudo-infarct pattern in Right Precordial
Leads
- Q waves in II, III, aVF
o 2D ECHO FINDINGS:
 Thickened LV and RV walls
 Increased Echogenicity of RV and LV walls
 Normal LV and RV size
 Dilated LA and RA chambers Fig 1: Restrictive cardiomyopathy-amyloidosis, gross
o CARDIAC MRI:  Heart is firm & rubbery w/ a waxy cut surface
 Thickened LV walls and IVS  Atria are markedly dilated
 Delayed Gadolinium Enhancement:  Left atrial endocardium:
- Patchy and Subendocardial o Has yellow-brown amyloid deposits that give
- Involves the Atrium (as well as the LV) texture to the surface

 DIAGNOSIS OF AMYLOIDOSIS IN GENERAL:

o For any type of Amyloidosis:
 Biopsy is the definitive test
Subcutaneous Fat Pad Endo-Myocardial
Biopsy Biopsy
- Will show the amyloid - ALL amyloidosis will
deposits in the fat pad be positive for
- More likely to be Amyloid deposits with
positive in AL than myocardial biopsy
other types of
Amyloidosis

 MANAGEMENT:
o Goals of Management:
 Treat the heart failure
 Anticoagulation
 Treat the underlying disease to suppress new
amyloid formation Fig 2: RCMP-amyloidosis, echocardiogram
 Transplant (Heart transplant, Liver transplant)  Thickened wall of both ventricles w/o major chamber
 Pacing dilatation
 ICD  Atria are markedly dilated:
o Consistent w/ chronically elevated ventricular filling
 PROGNOSIS: pressures
AL type o Has the worst prognosis  Mitral valve (MT) & Tricuspid valve (TV) are thickened
o Life expectancy: 6-12  A pacing lead is visible in the RV
months  Pericardial effusion is evident
o Theory:  Hyperrefractile glittering of the myocardium is typical
 In addition to the of amyloid infiltration
damage caused by

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B. IRON OVERLOAD CARDIOMYOPATHY: Phase 1 Phase 2 Phase 3
 Hemochromatosis Acute phase Intermediat Fibrotic
 Multiple blood transfusions e phase phase
Pathology Myocardial LV/RV Endomyocardi
C. MOCARDIAL SARCOIDOSIS: inflammation & thrombus al fibrosis
 Arrhythmia necrosis formation due Restrictive
to CMP
D. FIBROTIC RESTRICTIVE CARDIOMYOPATHY: endocarditis
 Progressive fibrosis can cause restrictive myocardial disease
w/o ventricular dilation LV/RV systolic
 Thoracic radiation: dysfunction
o Common for breast & lung cancer or mediastinal
lymphoma MV/TV
o Can produce early or late restrictive cardiomyopathy regurgitation
o Patients w/ radiation cardiomyopathy may present w/ a Symptoms Asymptomatic Heart failure MS or TS w/
possible diagnosis of constrictive pericarditis as the Embolism concomitant
2 conditions often coexist Workup Echo is normal Echo will MR or TR
 Endomyocardial biopsy: MRI will show show
o Should be performed if considering pericardial stripping inflammation/ thrombus, TR,
surgery necrosis MR
 Causes: Troponin (+)
o Scleroderma:
 Causes small vessel spasm & ischemia → small, 2. ENDOMYOCARDIAL FIBROSIS:
stiff heart w/ reduced ejection fraction w/o dilation  Characteristics:
 Pulmonary hypertension → RV failure - Fibrosis of the endocardium
- Involving both the LV and RV
E. ENDOMYOCARDIAL DISEASES: - Disease is confined to the:
 General Characteristics:  LV or RV Apex and
o Common endpoint: Fibrosis of the Endocardium  Annulus of the MV/TV
o Common presentation: Restrictive CMP  Pericardial effusion
 3 Types:  Cause: Unknown
1. LOEFFLER’S ENDOCARDITIS: - Theory: An infectious agent causes this disease
 Assoc w/ chronic hypereosinophilic syndrome: - They say that because this is found mostly in
- Persistent eosinophilia >1500 cells/mL for 6 poor countries like Africa
months → acute phase of injury in the
endocardium 3. CARCONOID SYNDROME:
 Incidence: Men > women  Triad of Carcinoid Syndrome:
 Pathology: - Flushing
- The abnormal eosinophils secretes substances - Diarrhea
that damage the organs → Fibrosis - Bronchospasm
 What triggers the eosinophilia?:  Pathology:
- Allergy - Serotonin produces fibrous plaques in the
- Parasitic infections endocardium & right sided cardiac valves
- Malignancy
- Idiopathic hypereosinophilia II. HYPERTROPHIC CARDIOMYOPATHIES (HCMP)
 Most common genetic cardiac disease:
 Vs carcinoid syndrome: o Autosomal dominant
Loeffler’s Carcinoid o Most common cause of sudden death in the young
Endocarditis Syndrome o Mutations in genes encoding proteins of the cardiac
Predominantly right Has bilateral sarcomere:
sided involvement  MYH7 or MYBPC3 gene
 Definition:
o LVH in the absence of secondary causes including:
 Management:  Hypertension
Medical Surgical  Aortic stenosis
Steroids/ Surgery for Fibrotic  Athlete’s heart
chemotherapy/ Phase may be in the  Systemic infiltrative or storage disease
anticoagulation during form of: Valve  Other terminologies:
the acute and replacement o Hypertrophic obstructive cardiomyopathy (HOCM)
intermediate phase Excision of fibrotic o Asymmetric septal hypertrophy (ASH)
endocardium o Idiopathic hypertrophic subaortic stenosis (IHSS)
o Accepted term: HCM, with or without obstruction

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HYPERTROPHIC  TYPES OF HYPERTROPHY IN HCM:
Ejection Fraction >60% A. ISOLATED SEPTAL HYPERTROPHY
(normal >55%)
Left ventricular Often decreased
diastolic dimension
(normal <55mm)
Left ventricular wall Markedly increased
thickness
Atrial size Increased; related to elevated
filling pressures
Valvular regurgitation Related to valve-septum
interaction; mitral regurgitation
Common first Exertional intolerance;
symptoms May have chest pain:
o Due to compromised
blood supply from the
epicardium to the
myocardium
o Hypertrophy occurs in the  Predominately ventricular septal hypertrophy (maximal wall
inner portion of the thickness, 24 mm)
myocardium, but blood
supply only reaches up to the B. FOCAL BASAL SEPTAL HYPERTROPHY
level of the old
unhypertrophied
myocardium in the LV
Congestive symptoms Left sided congestion at rest may
develop late
Arrhythmias Ventricular tachyarrhythmias;
atrial fibrillation

 Histopathology of HCM:
o Myocytes are:
 Hypertrophied
 Misaligned
 Disorganized

 Focal hypertrophy of basal inter-ventricular septum (arrows)

w/o hypertrophy elsewhere w/in the myocardium in mid-
diastole on LV outflow tract

C. ISOLATED POSTERIOR LV FREE WALL

HYPERTROPHY

Fig 3: HCM, microscopic morphology

 Disordered myocyte architecture w/ swirling & branching
rather than the usual parallel arrangement
 Myocyte nuclei vary markedly in size
 Interstitial fibrosis is present

 Mild asymmetric hypertrophy of the septum (asterisk, wall

thickness of 16 mm) in a patient w/ a disease-causing
sarcomere mutation in the myosin-binding protein c gene

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D. NONCONTIGUOUS SEGMENTAL HYPERTROPHY  MARKERS OF HCM WITHOUT HYPERTROPHY:
A. ELONGATED ANTERIOR MV LEAFLET

 Segmental LV hypertrophy of the basal anterior septum &  Anterior mitral leaflet is indicated in thin arrows
posterior (inferior) LV wall (asterisks), separated by regions  Posterior mitral leaftlet in thick arrows
of normal LV thickness (arrows) B. MULTIPLE LV CRYPTS
E. LV APICAL ANEURYSM + MILD WALL
HYPERTROPHY

 LEFT image:  Extensive crypts including:

o Demonstrates a medium sized apical aneurysm
(arrowheads) w/ maximum transdimensional width of
2.2 cm
o Mid-ventricular apposition of the septum & LV free wall
producing distinct proximal (P) & distal (D) chambers
 RIGHT image:
o Expansion of the apical aneurysm (arrowheads)
F. END STAGE HCM: LV DILATION & LV WALL
THICKENING
o 3 crypts penetrating more than half the transmural
thickness of basal inferior wall (thick arrows)
o 2 crypts in the anterior wall (thin arrows)
o 1 crypt penetrating virtually the entire thickness of the
inferior wall at the mid-LV level (arrowhead)
C. FIBROSIS: LATE GADOLINIUM ENHANCEMENT
D. END STAGE HCM

 LV hypertrophy is lost → LV becomes fibrotic → LV is now

 Dilated RV w/ focal wall thinning of the basal RV free wall dilated
(thin arrows), difficult to differentiate from DCMP  HCM becomes Dilated CMP

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 CONSEQUENCES OF HCM:  TYPICAL LATE PEAKING WAVE FORM OF HCM IN
o Left Ventricular Outflow Tract (LVOT) DOPPLER ECHO/2D ECHO
Obstruction: A. LVOT OBSTRUCTION B. MIDVETRICULAR
 Most common focus of diagnosis and OBSTRUCTION
intervention
 Exacerbated by:
- Small chamber size
- Increased contractility
o Diastolic dysfunction
o Microvascular dysfunction
o Myocardial fibrosis
o Hypotension and near syncope:
 With severe ventricular Hypertrophy → LV
becomes narrower therefore there is less
volume inside the LV
 Low preload – dehydration
 Low afterload – arterial vasodilation

 TYPES OF OBSTRUCTION IN HCM:

A. LEFT VENTRICULAR OUTFLOW TRACT (LVOT)
OBSTRUCTION W/ SYSTOLIC ANTERIOR MOTIOM

4.2 m/sec 3.3 m/sec

 MITRAL VALVE ABNORMALITY IN HCM:

o Presentation:
 Elongated anterior & posterior MV leaflets
o It is the inherent abnormality in the MV leaflet that causes
LVOT obstruction
o Abnormal insertion of papillary muscle
o Characterized by direct insertion in the MV leaflet
(without intervening chordae)

 LVOT GRADIENT & MURMUR:

o The LVOT gradient determines the intensity of the
murmur:
 Higher LVOT gradient (dehydration/hypotension) →
louder murmur
 Apical 4-chamber view showing systolic anterior motion  Standing → louder murmur
(SAM) of anterior mitral leaflet o Factors that reduce the LVOT Gradient and Intensity of
the murmur:
B. MIDVENTRICULAR OBSTRUCTION DUE TO
ABNORMAL PAPILLARY MUSCLE INSERTION Reduced myocardial  E.g. Beta Blockers
contractility  To allow blood to
accumulate
Increase ventricular  E.g. Hydration
volume
Increase peripheral  E.g. Handgrip and
resistance Squatting

 HCM DIAGNOSIS:
o History and PE
o Cardiac imaging

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 COMPLICATIONS OF HCM: C. ATRIAL FIBRILLATION:
A. HEART FAILURE:  Most common sustained arrhythmias in HCM
 End stage heart failure in HCM: HF w/ Low EF <50%:  AF most common arrhythmia everywhere
- The Low EF is due to the widespread and  AF incidence increase with:
transmural fibrosis - Increasing age:
 Main Pathology:  In contrast with VTach in HCM (which
- Microvascular disease +intermittent bouts of decreases in incidence once age >60 y/o)
ischemia and infarction - Increasing LA size
 Most reliable risk marker for development of end  Management of AF in HCM:
stage HF in HCM: - Amiodarone and disopyramide are the preferred
- Family history of HCM + Low EF rhythm controller
 Diagnosis: - Beta blockers and L type calcium channel
- MRI + Gadolinium Contrast blockers are preferred rate controller
- Look for wide spread Late Gadolinium - Anticoagulation is warranted
Enhancement - Radiofrequency ablation for medical refractory
 Management: cases
- Heart transplant ****Refer to Addendum for diagram (last page)
- End Stage HF is the only indication for heart
transplant in HCM  PROGNOSIS:
 Management of HF in HCM that is not yet in o Prognosis: Good
End Stage: o SCD: <1%/year
- Medical management o 1 in 20 patients develop overt systolic dysjunction with
- Surgical myomectomy reduced EF
- Alcohol septal ablation o Death is from HF and SCD
- Dual chamber pacing – for complete heart block

B. SUDDEN CARDIAC DEATH:

 SCD can occur with or without exertion:
- Can occur at rest
- Can occur during exercise
 HCM is the most common cause of death in
athletes
 Ventricular arrhythmia and HCM:
- Mechanism : Reentry
- Precipitated by inhomogenous activation of the
LV myocardium
- Factors in HCM that promote inhomogenous
activation and re-entry:
 Disorganized cell architecture
 Microvascular ischemia
 Patchy areas of fibrosis
RISK FACTORS FOR SCD IN HCM
Major Risk Factor Screening test
History of cardiac arrest History
or spontaneous
sustained ventricular
tachycardia
Syncope Nonvagal, History
often with or
after exertion
Family history of SCD Family history
Spontaneous >3 beats at Exercise or 24 –
nonsustained ventricular rate >120 48h ambulatory
tachycardia recording

LV thickness >30mm Presents in Echocardiography

<10% of
patients
Abnormal blood Systolic BP fall Maximal upright
pressure response to or failure to exercise testing
exercise increase at
peak exercise

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For the video: refer to https://bit.ly/2TQL6xN

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