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Congenital heart diseases

Changes at birth
CARDIOVASCULAR Ductus arteriosus (DA) closes
PATHOLOGY (1) Anatomic closure within 2 to 8 weeks in most cases
(2) Becomes the ligamentum arteriosum
Gas exchange occurs in the lungs.
Pulmonary artery opens up due to the increase in
PaO2.
Chavaboon Dechsukhum M.D., Ph.D. Foramen ovale functionally closes in 24
hours.
Newborn: foramen ovale and ductus
arteriosus are closed

Features of congenital heart disease

Epidemiology Spectrum of CHD
Most common heart disease in children
(1) Valvular diseases (e.g., pulmonary stenosis)
Incidence is higher in premature than full-term newborns.
No identifiable cause for CHD in 90% of cases. CHD: risk (2) Shunts (noncyanotic and cyanotic)
with maternal age
Systemic complications
Risk factors for CHD
(1) Secondary polycythemia with clubbing of the
(1) Previous child with CHD (1:50 chance second child with
CHD) fingers in cyanotic CHD
(2) Down syndrome and other trisomy syndromes Decreased PaO2 stimulates the release of erythropoietin.
(3) Maternal risk factors (2) Increased risk for developing infective
(a) Increased age
endocarditis
(b) Poorly controlled diabetes mellitus
(c) Alcohol intake (3) Metastatic abscesses (particularly in cyanotic
(d) Congenital infection (e.g., rubella) CHD)

Incidence of congenital heart disease O2 saturation (SaO2) in shunts CHD

Ventricular septal defects25% to 30%
Atrial septal defects10% to 15%
Patent ductus arteriosus10% to 20%
Tetralogy of Fallot4% to 9%
Pulmonary stenosis5% to 7%
Coarctation of the aorta5% to 7%
Aortic stenosis4% to 6%
Complete transposition of the great arteries4% to
10%
Truncus arteriosus2%Tricuspid atresia1%
shunts: left-to-right; right-to-left (often
cyanotic)
Left-sided to right-sided heart shunts
Left-to-right shunts: danger of shunt reversal if
uncorrected
There is an increased SaO2 (step up) from 75% to
80% in affected chambers and vessels.
Right-sided to left-sided heart shunts
(1) Decreased SaO2 (step down) from 95% to 80%
in affected chambers and vessels
(2) Cyanosis depends on how low Sa O2
percentage is in the left side of the heart.

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Ventricular septal defect ,(VSD): is the most

Left-sided to right-sided heart shunts common congenital heart disease in children
Volume overload occurs in the right side of the heart;
may have several complications: (1) Most common CHD (20% of cases)
(1) Pulmonary hypertension (PH) (2) Defect in the membranous
(2) RVH due to PH interventricular septum
PH increases afterload the right ventricle must contract
against to eject blood. (3) Harsh pansystolic murmur at lower left
(3) LVH due to excess blood originating from the sternal border VSD: defect in membranous
right side of the heart septum
Eccentric hypertrophy due to volume overload
(4) Associations
(4) Reversal of the shunt
(a) Corrected transposition
(a) Occurs when pressure in the right ventricle overrides the left
ventricular pressure (b) Tetralogy of Fallot
(b) Cyanosis (Eisenmenger syndrome) and clubbing develop (c) Cri du chat syndrome
Another term is cyanosis tardive (late-onset cyanosis). (d) Fetal alcohol syndrome

Pathology:
(5) Increased SaO2 in right ventricle and Ventricular septal defects occur as
pulmonary artery a small hole in the membranous septum,
large defect involving more than the membranous
(6) Spontaneously close in 30% to 50% of region (perimembranous defects),
cases (defects in the muscular portion, which are more
(7) Lifetime risk for infective endocarditis common anteriorly but can occur anywhere in the
muscular septum, or
ranges from 5% to 30%.
complete absence of the muscular septum (leaving a
single ventricle).

Atrial septal defect (ASD), ASD: most

common CHD in adults
Ventricular septal defect
(1) Patent foramen ovale (secundum
type; most common type)
(a) Accounts for 10% to 15% of all CHD
ASD: patent foramen ovale
(b) Most common adult CHD
(2) Associations
(a) Fetal alcohol syndrome
(b) Down syndrome (primum type in 25%)
(c) Paradoxic embolism

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Pathology:
Atrial septum defect
The atrial septum may be defective at a
number of sites
Patent foramen ovale:.
Atrial septal defect, ostium secundum
type
Sinus venosus defect:
Atrial septal defect, ostium primum type
Persistent common atrioventricular
canal

Physical findings
Patent ductus arteriosus (PDA)
- Mild systolic murmur at upper sternal
border in secundum type
- Fixed splitting of S2 ASD: fixed
splitting of S2 ;
Excess blood in right atrium causes delay
in closure of pulmonary valve.
- Increased SaO2 in right atrium, right
ventricle and pulmonary artery
(1) Accounts for 10% of all CHD
(2) Ductus arteriosus remains open.
Isolated defect in 75% of cases
(3) Associations
(a) Congenital rubella
(b) Respiratory distress syndrome
Due to decreased PaO2
(c) Complete transposition
(4) Increased SaO2 in the pulmonary artery

(5) Reversal of the shunt due to pulmonary Patent ductus arteriosus

hypertension
(a) Unoxygenated blood enters the aorta below
the subclavian artery
(b) Produces a pink upper body and cyanotic
lower body PDA: closed with indomethacin;
machinery murmur
Called differential cyanosis
(6) Machinery murmur is heard during
systole and diastole.
(7) Treatment
(a) Intravenous indomethacin inhibits
prostaglandin E2 (vasodilator)
(b) Surgical closure (e.g., banding)

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Right-sided to left-sided heart shunts
Cyanotic CHD
Tetralogy of Fallot
(1) Most common cyanotic CHD,
(a) Accounts for 10% of all cases of CHD
(b) Accounts for 50% to 70% of cyanotic CHD
(c) Accounts for 85% of adults with cyanotic CHD
(2) Defects
(a) Ventricular septal defect
(b) Infundibular or valvular pulmonary stenosis
(c) Right ventricular hypertrophy
(d) Dextrorotated aorta with right-sided aortic arch (25% of cases)
(3) Onset of cyanosis usually after 3 months of age
(4) Systolic murmur is heard along the left sternal border.
(5) Minimal pulmonary valve (PV) stenosis
Tetralogy of Fallot: degree of PV stenosis
correlates with presence or absence of
cyanosis
(a) Leads to increased oxygenation of blood in
the lungs
(b) Less right-to-left shunting through the VSD
(c) Absence of cyanosis (SaO2 > 80%)
(6) Severe PV stenosis
(a) Less oxygenation of blood in the lungs
(b) Increased right-to-left shunting through the
VSD
(c) Cyanosis (SaO2 < 80%)

(7) Decreased SaO2 in the left ventricle and

aorta
(8) Cardioprotective shunts increase
oxygenation.
(a) ASD steps up SaO2 in the right atrium.
(b) PDA shunts blood from the aorta to the
pulmonary artery.
(9) Tet spells (hypoxic spells)
(a) Caused by a sudden increase in hypoxemia
and cyanosis
(b) Squatting increases systemic vascular
resistance, causing temporary reversal of the
shunt.
(c) Unoxygenated blood is forced back into the
pulmonary artery for oxygenation.

Complete transposition of the great

vessels
Transposition of the great vessels
(1) Defects
(a) Aorta arises from the right ventricle.
(b) Pulmonary artery arises from the left ventricle.
(c) Left and right atria are normal.
(2) Cardioprotective shunts Transposition: aorta
empties RV, pulmonary artery empties LV, atria
normal
(a) ASD steps up SaO2 in the right atrium.
Increases SaO2 in the right ventricle for delivery to tissue via
the aorta
(b) VSD shunts blood into the left ventricle for oxygenation
in the lungs via the pulmonary artery.
(c) PDA shunts blood into the pulmonary artery for
oxygenation in the lungs.

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Other types of cyanotic CHD
(1) Total anomalous pulmonary
venous return
Pulmonary vein empties oxygenated
blood into the right atrium.
(2) Truncus arteriosus
Aorta and pulmonary artery share a
common trunk and intermix blood.
(3) Tricuspid atresia
Usually have an ASD with a right-to-left
shunt
Adult coarctation
Accounts for 30% of coarctations
Develops during adult life
Constriction of the aorta distal to the
ligamentum arteriosum
(1) Blood flow into the proximally located branch
vessels is increased.
(2) Blood flow below the constriction is decreased.
(3) Produces a systolic murmur
(4) Additional defect is a bicuspid aortic valve (50%
of cases)
Clinical findings distal to the
constriction
(1) Decreased blood pressure in the lower
extremity
(2) Leg claudication (pain in calf or buttocks
when walking)
(3) Decreased renal blood flow Hypertension:
due to activation RAA system
Activates the renin-angiotensin-aldosterone (RAA)
system, causing hypertension
Surgical removal of a coarctation
corrects the hypertension
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Coarctation of the aorta
Accounts for 10% of all CHD
Infantile (preductal) coarctation
Accounts for 70% of coarctations Infantile
coarctation: associated with Turner's
syndrome
Constriction of aorta between the
subclavian artery and ductus arteriosus
Associated with Turner's syndrome
Clinical finding:
Adult coarctation:
disparity between upper/lower extremity
blood pressure > 10 mm Hg
Increased upper extremity blood pressure
Dilation of aorta and aortic valve ring
(regurgitation)
Increased risk for developing an aortic
dissection
Increased cerebral blood flow (increased
risk for berry aneurysms)
Rheumatic fever (RF)
Epidemiology
Occurs at 5 to 15 years of age
Develops over 1 to 5 weeks (average 20 days)
after group A streptococcal (Streptococcus
pyogenes) pharyngitis or other sites (skin)
Risk factors for streptococcal pharyngitis
(1) Crowding
(2) Poverty
(3) Young age
Recurrent RF produces chronic valvular
disease.
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Pathogenesis
Acute RF: immune-mediated type II Nephrogenic strains of group A
hypersensitivity reaction; cell-mediated streptococcus lack M protein.
immunity type IV Never associated with RF
Immune-mediated disease that follows group A
streptococcal infection
Antibodies develop against group A streptococcal
M proteins.
(1) Antibodies cross-react with similar proteins in human
tissue (called mimicry).
Type II hypersensitivity reaction
(2) Cell-mediated immunity has also been implicated.
Type IV hypersensitivity reaction

Clinical findings Carditis (35%)

Migratory polyarthritis (75%)
(1) Most serious complication
(1) Most common initial presentation of
(2) Fibrinous pericarditis
acute rheumatic fever Precordial chest pain with friction rub
(2) Occurs in large joints (knees), (3) Myocarditis
ankles, and wrists (a) Most common cause of death in acute disease
(3) No permanent joint damage (b) Aschoff bodies are present.
Central area of fibrinoid necrosis surrounded by
Anitschkow cells (reactive histiocytes)

Endocarditis
(a)Most commonly involves the MV (then Rheumatic fever: mitral
aortic valve)
(b)Sterile, verrucoid-appearing regurgitation in acute attack; mitral
vegetations develop along the line of stenosis in chronic disease
closure of the valve
Embolism is uncommon.
(c) MV regurgitation or aortic valve (AV)
regurgitation
May result in congestive heart failure
(d) Recurrent infection of the MV and AV
leads to MV stenosis or AV stenosis.

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Rheumatic endocarditis
Subcutaneous nodules (10%) occur
on extensor surfaces.
Erythema marginatum (10%)
Evanescent circular ring of erythema that
develops around normal skin
Sydenham's chorea (10%)
(1) Reversible rapid, involuntary movements
affecting all muscles
(2) Late manifestation of acute RF
Minor criteria
(1) Previous RF or rheumatic heart disease
(2) Arthralgia (pain without joint swelling)
(3) Fever
(4) Increased acute phase reactants
(a) Increased erythrocyte sedimentation rate
(b) Increased C-reactive protein
(c) Absolute neutrophilic leukocytosis
(5) Prolonged PR interval (first-degree heart
block)
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Rheumatic endocarditis
Diagnosis of acute RF (revised
Jones criteria)Acute RF: diagnose
with Jones criteria
One major and two minor criteria if supported by
evidence of an antecedent group A streptococcal
pharyngitis
Major criteriaAcute RF: carditis, arthritis, chorea,
erythema marginatum subcutaneous nodules
(1) Carditis
(2) Migratory polyarthritis
(3) Chorea
(4) Erythema marginatum
(5) Subcutaneous nodules
Laboratory testsAcute RF: ASO and
DNase B titers
(1) Increased antistreptolysin O (ASO) titers >
400 Todd units
(a) Peak at 4 to 5 weeks after streptococcal
pharyngitis
(b) High titers are supportive, but not diagnostic for
RF.
(2) Increased anti-DNase B titers (less reliable
than ASO titers)
(3) Throat cultures may or may not be positive.
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Mitral valve stenosis

Treatment for acute RF
(1) Bed rest Etiology
(2) Course of penicillin to eradicate throat carriage Most often caused by recurrent attacks of
of group A streptococcus rheumatic fever
Continue penicillin for years if severe carditis
(3) Aspirin with or without presence of a murmur
Pathophysiology
(4) Carditis and heart failure Narrowing of the mitral valve orifice
Corticosteroids if murmur is present Left atrium becomes dilated and
Chronic RF hypertrophied
Monthly treatment with benzathine penicillin IM to Due to increased work in filling the ventricle in
prevent recurrences diastole

Mitral valve stenosis Clinical findings

Dyspnea and hemoptysis with rust-
colored sputum (heart failure cells)
Due to pulmonary capillary congestion and
hemorrhage into the alveoli
Atrial fibrillation
Atrial fibrillation: common in mitral stenosis
(1) Due to left atrial dilation and hypertrophy
(2) Intra-atrial thrombus develops due to stasis.
Danger of systemic embolization

Pulmonary venous hypertension Mitral valve regurgitation

(1) Due to chronic backup of atrial blood into the
pulmonary vein Etiology
(2) Right-sided heart failure and right ventricular
Mitral valve prolapse (most common cause) Mitral
hypertrophy may occur.
Functional MV regurgitation (stretching of the MV
Dysphagia for solids ring)
(1) Left atrium is the most posteriorly located chamber Example-left-sided heart failure
in the Infective endocarditis
(2) Dilation of the left atrium compresses the
esophagus. Rupture or dysfunction of the papillary muscle in
acute MI
Opening snap followed by an early to mid-
diastolic rumble Acute rheumatic fever, Libman-Sacks endocarditis
in systemic lupus erythematosus

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Mitral valve regurgitation

Pathophysiology
Retrograde blood flow into the left atrium during
systole
(1) Due to an incompetent MV or dilated MV ring
(2) Left atrium becomes dilated and hypertrophied
Volume overload in the left ventricle and left atrium
leads to LHF.MV regurgitation: pansystolic murmur;
S3/S4; no intensity with deep held inspiration
Clinical findings
Dyspnea, inspiratory crackles, and cough from
LHF
Pansystolic murmur; S3 and S4 heart sounds

Mitral valve prolapse Mitral valve prolapse

Epidemiology
Autosomal dominant inheritance in some casesMVP: association
with Marfan and Ehlers-Danlos syndromes
More common in women
Associated with Marfan and Ehlers-Danlos syndromes
Pathophysiology MVP: myxomatous degeneration;
excess dermatan sulfate
Posterior bulging of the anterior and/or posterior leaflets into the left
atrium during systole
Redundancy of valve tissue
(1) Myxomatous degeneration of the mitral valve leaflets
(2) Due to excess production of dermatan sulfate

Clinical findings
Most patients are asymptomatic.
Heart murmur
(4) Increased preload causes the click and murmur to
(1) Mid-systolic click MVP: systolic click followed by murmur
move closer to the S2 heart sound; examples:
Due to sudden restraint by the chordae of the prolapsed valve
(2) Mid to late systolic regurgitant murmur follows the click.
(a) Reclining
(3) Decreased preload causes the click and murmur to move
Increases venous return to the right side of the heart
closer to the S1 heart sound; examples: (b) Squatting or sustained hand grip
(a) Anxiety Increases systemic vascular resistance, which impedes
Increased heart rate decreases diastolic filling of left ventricle. emptying of the left ventricle
(b) Standing
Decreases venous return to the right side of the heart
(c) Valsalva maneuver (holding breath with epiglottis closed)
Positive intrathoracic pressure decreases venous return to the
heart.MVP: preload alters click and murmur relationship to S1/S2

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Palpitations, chest pain, rupture of chordae producing Treatment in symptomatic patients

acute MV regurgitation
-Blocker decreases heart rate and force of
contraction leading to less stretch and trauma to
the prolapsed leaflets.

Aortic valve (AV) stenosis Aortic stenosis

AV orifice is normally 3 cm2.
Symptoms appear when the orifice < 1 cm2.
Severe AV stenosis is present when the orifice < 0.5 cm2.
Etiology
Calcific AV stenosis of normal or bicuspid aortic valve Calcific AV
stenosis: most common cause in patients > 60 years old
Most common cause of AV stenosis in patients > 60 years old
Congenital AV stenosis
Most common cause in patients < 30 years old
Age-related sclerosis of the aortic valve
Chronic rheumatic fever
Pathophysiology
Obstruction to left ventricular outflow during systole
Reduction in the aortic valve orifice area produces concentric LVH.

Clinical findings
Systolic ejection murmur; S4 heart sound
Angina with exercise AV stenosis: most common
Decreasing preload lessens the volume the left valvular lesion causing syncope and angina with
ventricle must eject. AV stenosis: ejection exercise
murmur; S4; intensity with preload; (1) Decreased blood flow through the stenotic valve leads to less
filling of the coronary arteries during diastole.
intensity with preload (2) Subendocardium of concentrically hypertrophied heart receives
Murmur intensity decreases. less blood.
AV stenosis: microangiopathic hemolytic anemia with
Increasing preload increases the volume the left
schistocytes, hemoglobinuria
ventricle must eject. Decreased blood flow through the stenotic valve leads
Murmur intensity increases. to decreased blood flow to the brain.
Opposite effect occurs in hypertrophic Hemolytic anemia with schistocytes
Indication for AV replacement
cardiomyopathy.

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Pathophysiology
Aortic valve regurgitation
Etiology Retrograde blood flow into the left ventricle
(1) Due to an incompetent valve or dilated AV ring
Isolated AV root dilation: most common cause of (2) Decreases diastolic pressure
aortic regurgitation Due to drop in arterial volume as blood flows back into the left
Infective endocarditis ventricle
Most common infectious cause of acute AV regurgitation (3) Volume overload of the left ventricle
Long-standing essential hypertension Increases stroke volume (Frank-Starling mechanism)AV
Chronic rheumatic fever regurgitation: pulse pressure

Aortic dissection Coarctation Increased pulse pressure (difference

Syphilitic aortitis between systolic and diastolic pressure)
Aortitis in ankylosing spondylitis Produces hyperdynamic circulation (e.g., bounding
Takayasu arteritis pulses)

Clinical findings
AV regurgitation: early diastolic murmur; bounding
pulses; S3, S4; no intensity with inspiration (4) An increase in systolic pressure plus a
Early diastolic murmur; S3 and S4 heart sounds
decrease in diastolic pressure widens the
pulse pressure (difference between systolic
Signs of a hyperdynamic circulation are caused by a
pressure and diastolic pressure), which
widened pulse pressure.
(1) Left ventricular volume markedly increases due to the
causes the hyperdynamic findings,
incompetent valve. including:
(2) Frank-Starling mechanisms increase in stroke volume. (a) Bounding pulses (Corrigan's water hammer
- AV regurgitation: hyperdynamic circulation pulse)
- Increases systolic pressure
(b) Head nodding with systole (de Musset's
(3) Blood regurgitating into the left ventricle produces a drop in the
diastolic blood pressure.
sign)
Recall that the diastolic blood pressure represents the amount of blood (c) Pulsating nail bed with elevation of the nail
in the arterial system while the heart is filling up in diastole. (Quincke's pulse)

Tricuspid valve (TV) regurgitation

Etiology Pathophysiology
Functional TV regurgitation (stretching of TV
Retrograde blood flow into the right atrium
ring)
during systole
(1) Most common cause in
(1) Due to stretching of the valve ring or damage
(2) Examples-RHF, pulmonary hypertension, dilated
cardiomyopathy, right ventricular infarction to the valve
(2) Causes right ventricular overload and RHF
Congenital cardiac abnormalities
Most common cause in young adults (3) Causes right atrial dilation and hypertrophy

Infective endocarditis in intravenous drug Produces volume overload in the right

abuse atrium and right ventricle
Carcinoid heart disease

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Clinical findings
Pulsating liver
Blood regurgitates into the venous system with
systole.TV regurgitation: pansystolic murmur;
S3/S4; intensity with deep held inspiration
Giant c-v wave jugular venous pulse: Sign of
severe TV regurgitation
Pansystolic murmur; S3 and S4 heart sounds
Pulmonary valve regurgitation
Most often a functional murmur from
stretching of the PV ring PV
regurgitation: pulmonary hypertension
Example-pulmonary hypertension (called a
Graham Steell murmur)
Diastolic murmur; S3 and S4 heart
sounds
Microbial pathogens
(1) Streptococcus
viridansStreptococcus
viridans: most common cause of IE
(a) Most common overall cause of IE (30-40% of
cases)
(b) Typically produces subacute IE
(2) Staphylococcus aureus
(a) Most common cause of IE in
IVDAStaphylococcus aureus: most common
pathogen producing IE in IV drug abuse
(b) High mortality rate
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Pulmonary valve (PV) stenosis
Uncommon valvular lesion
Associated with carcinoid heart disease
Systolic ejection murmur
Right ventricular hypertrophy
Infective endocarditis (IE)
Epidemiology
Risk factors for IE
(1) Diabetes mellitus, HIV infection
(2) Poor dental hygiene, congenital heart
disease
(3) Mitral valve prolapse, aortic stenosis
(4) Hemodialysis, prosthetic heart valve
(5) Intravenous catheters, intravenous drug
abuse (IVDA)
(3) Staphylococcus epidermidis
(a) Most common cause of IE after insertion of
prosthetic valves
Usually occurs within 2 months of
insertionStaphylococcus epidermidis: most common
pathogen producing nosocomial and prosthetic valve IE
(b) Most common cause of nosocomial
endocarditis from intravenous catheters
(4) Streptococcus bovis
Most common cause of IE in ulcerative colitis or
colorectal cancer
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Valves involved in IE Pathogenesis

(1) Majority of valves involved are left-sided
(>90%).
Right-sided valves with IE are usually associated with
IVDA.
Streptococcus bovis: most common pathogen producing
IE in ulcerative colitis/colorectal cancer
(2) Mitral valve
Most common overall valve involved in IE
Turbulent blood flow damages the valve
adherence of fibrin and platelets trapping of
circulating bacteria/fungi proliferation of
pathogens + laying down of fibrin to encase the
vegetation
Streptococcus viridans infects previously damaged
valves.
Staphylococcus aureus infects normal or previously
damaged valves.

(3) Tricuspid valve and aortic valve Pathology

Most common valves involved in IE due to IVDATV Vegetations destroy the valve leaflet and chordae
regurgitation in IVDA is due to infective endocarditis
tendineae
Valve destruction leads to regurgitation murmurs.

Clinical findings
Fever is the most consistent sign (98% of cases). Splenomegaly (if IE is subacute)
Common cause of fever of unknown origin
Immunocomplex vasculitis (if IE is subacute) Hematuria with RBC casts
Examples-glomerulonephritis, Roth's spot (irregular red (glomerulonephritis)
area with central white dot)
Microembolization findings Hematuria without RBC casts (infarction)
(1) Splinter hemorrhages in nail beds
(2) Janeway's lesions (painless lesions on palms and
feet)
(3) Osler's nodes (painful nodules on pads of the
fingers or toes)
(4) Mucosal petechiae
(5) Infarctions in different tissue sites (e.g., digits, brain)

Splinter hemorrhages in nail beds Infective endocarditis of aortic

valve

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Laboratory findings Libman-Sacks endocarditis

IE: positive blood culture majority of cases
Positive blood cultures are present in 80% of cases.
Associated with systemic lupus
Reflects the fact that many patients are taking antibiotics
Neutrophilic leukocytosis occurs in acute IE. erythematosus (SLE) in 30% to 50% of
Monocytosis occurs in subacute bacterial endocarditis. cases
Mild anemia
Usually anemia of chronic disease Sterile vegetations are located over the
Transesophageal echocardiography mitral valve surface and chordae.
Useful in detecting vegetations on the valves
Libman-Sacks endocarditis: Produces
Treatment valve deformity and MV regurgitation
Initial treatment is directed at the most likely
organism.
Antibiotic after identification of the pathogen is
guided by susceptibility testing

Nonbacterial thrombotic endocarditis

Libman-Sacks endocarditis
(marantic endocarditis)
Paraneoplastic
Sterile, nondestructive vegetations on
the mitral valve
sterile
Procoagulant effect of circulating mucin from
mucin-producing tumors of the colon/pancreas
Complications
Embolization
May be secondarily infected

Marantic endocarditis
Myocarditis

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Epidemiology
Major cause of sudden death (15-20%) in
(2) Acute rheumatic fever
adults < 40 years of age
Etiology
(1) Microbial pathogens
(a) Coxsackievirus (most common cause)
Coxsackievirus: most common cause of
myocarditis and pericarditis
(b) Trypanosoma cruzi (Chagas' disease)
(c) Lyme disease (Borrelia burgdorferi)
* Chagas' disease: most common cause of
myocarditis leading to CHF in Central/South
America

(3) Toxins Pathology

Examples-diphtheria, carbon monoxide
(4) Drugs Drugs: doxorubicin, daunorubicin
Examples-doxorubicin, daunorubicin, cocaine
(5) Collagen vascular
Examples-SLE, systemic sclerosis
(6) Sarcoidosis
Global enlargement of the heart
and dilation of all chambers
Lymphocytic infiltrate with focal
areas of necrosis
Highly predictive of coxsackievirus

Viral myocarditis
Clinical findings
Fever
Chest pain
Pericardial friction rub (see below)
Biventricular heart failure
Heart murmurs
MV regurgitation most common

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Laboratory findings
Increased CK-MB and troponins I and T
Myocarditis: CK-MB, troponins I and T
Detection of antibodies of pathogens
Treatment
Treat the underlying cause.
Approximately 50% of patients will die
within 5 years.
Clinical and laboratory findings
Tachycardia
Fever
Precordial chest pain Pericarditis:
precordial rub; pain relieved by leaning
forward
(1) Pain is relieved when leaning forward.
(2) Pain increases when leaning back.
Often accompanied by a pericardial effusion
Young woman with pericarditis and effusion: most likely has
SLE
(1) Muffled heart sounds
(a) Fluid surrounds the heart
(b) All pressures are equal in all chambers of the heart.
(2) Hypotension associated with pulsus paradoxus
(a) Drop in systolic blood pressure > 10 mm Hg during
inspiration
(b) Inspiration increases the flow of venous blood into the
right side of the heart
Increased pressure of blood in the right ventricle
displaces the interventricular septum to the left causing a
decrease in the left ventricular volume and a
corresponding drop in systolic blood pressure.
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Pericarditis
Etiology
Similar to disorders listed for myocarditis
Pericarditis: most common cause is coxsackievirus
Coxsackievirus is the most common overall known
cause.
Most are idiopathic, the cause unknown.
Pathology
Fibrinous type of pericardial exudate
Often accompanied by an effusion
Dense scar tissue with dystrophic calcification may
cause constrictive pericarditis.
Pericardial friction rub
(1) Scratchy, three-component rub (systole, early,
and late diastole)
(a) Best heard with the patient leaning forward
(b) All three components are heard in 50% of cases.
(2) Does not disappear when the patient holds his
breath
Serum CK-MB usually normal
Troponins I and T are increased in 35% to
50% of cases.
Usually indicates myocarditis present as well
(3) Neck vein distention on inspiration
(a) Blood cannot easily enter the right
atrium, due to fluid surrounding the heart.
(b) Some blood refluxes back into the
jugular vein (Kussmaul's sign). Pericardial
effusion on inspiration: neck vein
distention, systolic blood pressure > 10
mm Hg
(4) Chest radiograph shows a "water bottle"
configuration
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Pericardial effusion on chest X-ray Constrictive pericarditis

(1) Etiology
(a) Tuberculosis is the most common cause worldwide.
(b) Most cases in the United States are idiopathic or secondary
to scarring from previous open heart surgery.
(c) Pericardial calcification is seen on a chest radiograph in
25% of cases. Constrictive pericarditis: incomplete filling of
chambers; pericardial knock
(2) Pathophysiology
Incomplete filling of the cardiac chambers due to thickening of
the parietal pericardium
(3) Pericardial knock
Due to the ventricles hitting the thickened parietal pericardium

Constrictive pericarditis
Treatment of pericarditis
Treat the underlying cause if it is
known
Treatment of pericardial effusion
Pericardiocentesis to remove fluid

Types of cardiomyopathy
Cardiomyopathy Cardiomyopathy: dilated,
Group of diseases that primarily involve hypertrophic, restrictive Dilated
the myocardium and produce (congestive)
myocardial dysfunction
Hypertrophic
Restrictive

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Dilated cardiomyopathy
Epidemiology (5) Drugs
Most common cardiomyopathy Dilated Examples-doxorubicin, daunorubicin,
cardiomyopathy: most common cardiomyopathy cocaine Dilated cardiomyopathy:
Etiology doxorubicin, daunorubicin
(1) Idiopathic (most common) (6) Postpartum state
(2) Genetic causes (25-35%) Last trimester or within 6 months
(3) Myocarditis Dilated cardiomyopathy: myocarditis postpartum
most common cause (7) Organic solvents ("glue sniffers heart")
Most common known cause; see Section VII (8) Acromegaly
(4) Alcohol (15-40%) (9) Myxedema heart in severe
Direct toxic effect or due to thiamine deficiency hypothyroidism

Pathophysiology
Decreased contractility Left- and right-sided S3 and S4 heart sounds
Narrow pulse pressure
Systolic dysfunction type of LHF
Due to decreased stroke volume
Clinical findings Arrhythmias
Global enlargement of the heart (1) Bundle branch blocks
(1) All chambers are dilated. (2) Atrial and ventricular arrhythmias
(2) Echocardiography shows poor contractility. Ejection fraction is usually <40% (normal,
Dilated cardiomyopathy: global enlargement of heart 55%).
Biventricular CHF
Treatment
Heart murmurs (MV and TV If medical therapy is ineffective, cardiac
regurgitation) transplantation is the only other option.

Dilated cardiomyopathy Hypertrophic cardiomyopathy (HCM)

Hypertrophic cardiomyopathy: most common cause
of sudden death in young individuals
Most common cause of sudden death in young individuals
Familial form
(1) Most common form
(2) Autosomal dominant with nearly complete penetrance
(3) Occurs in young individuals
(4) Genes mapped to chromosome 14
(a) Missense mutation in 1 of at least 10 genes that code for
proteins of cardiac sarcomeres
(b) Example-mutation in myosin heavy chain gene
Sporadic form
Occurs in elderly people

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Pathophysiology
Hypertrophy of the myocardium
Hypertrophic cardiomyopathy
(1) Disproportionately greater hypertrophy of interventricular
septum (IVS) than the free left ventricular wall.
(2) IVS hypertrophy may obstruct blood flow through the outflow
tract.
(3) Most patients do not have severe obstruction of the outflow
tract. HCM: obstruction below the aortic valve
Obstruction to blood flow, if present, is below the
aortic valve.
As blood exits the left ventricle, the anterior leaflet of the mitral
valve is drawn against the asymmetrically hypertrophied IVS
and
Aberrant myofibers are present in the conduction
system; fatal arrhythmias
Left ventricle is noncompliant.
Muscle thickening restricts filling.

4. Murmur intensity decreases (obstruction

Clinical findings lessens) with increased preload.
(1) Examples-reclining, drugs decreasing
1 Harsh systolic ejection murmur cardiac contractility (e.g., -blockers),
Best heard along the left sternal border sustained clenching of hands, squatting
2. Palpable double apical impulse HCM: (2) Increasing preload opens the outflow track.
preload changes on murmur intensity 5. Angina or syncope with exercise
opposite of those for AV stenosis Similar to aortic stenosis
3. Murmur intensity increases (obstruction 6. Sudden death is due to ventricular
worsens) with decreased preload. tachycardia/fibrillation. HCM: sudden
Examples-standing up, Valsalva maneuver (increases
death due to ventricular
positive intrathoracic pressure), use of inotropic drugs tachycardia/fibrillation
(e.g., digitalis) Correlates with left ventricular wall thickness

Treatment Restrictive cardiomyopathy

Avoid strenuous exertion.
Avoid drugs that decrease preload (e.g., diuretics)
or increase force of contraction (e.g., digitalis).
HCM: Treat with -blockers
-Blockers are the mainstay of therapy.
(1) Decreased heart rate prolongs diastole.
Increases preload
(2) Decrease myocardial contractility
Implantable cardioconvertor defibrillator
Prevents ventricular tachycardia/fibrillation and sudden
cardiac death
Restrictive cardiomyopathy: least common
cardiomyopathy; low-voltage ECG Etiology
Most frequently caused by the following:
(1) Amyloidosis
(2) Myocardial fibrosis after open-heart surgery
(3) Radiation
Infiltrative diseases
Examples-Pompe's glycogenosis, hemochromatosis
Endocardial fibroelastosis in a child
Thick fibroelastic tissue in the endocardium

Screen all first-degree relatives. Sarcoidosis

Systemic sclerosis
Two-dimensional echocardiography is used.
Screening for mutations is likely in the future.

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Pathophysiology Restrictive cardiomyopathy: Tumors of the Heart

ventricular compliance
Decreased ventricular compliance
Metastasis is more common than
Diastolic dysfunction type of LHF
Clinical findings
primary tumors.
Example-extension of a primary lung cancer
Progressive LHF and RHF
ECG is low voltage with ST-T wave changes. Pericardium is the most common site
Treatment for metastasis.
Treat the underlying cause. Leads to pericarditis and effusions
Examples-treat hemochromatosis with phlebotomy; treat
sarcoidosis with corticosteroids Primary tumors or tumor-like
No effective therapy for most causes conditions:
Cardiac myxoma, rhabdomyoma

Cardiac myxoma
Most common primary adult tumor
Diagnosis
Pathology
Benign primary mesenchymal tumor Cardiac myxoma: most Transesophageal ultrasound
common in left atrium
Most useful study for viewing the left atrium
Approximately 90% arise from the left atrium
The left atrium is the most posteriorly located
Sessile or pedunculated
"Ball-valve" effect blocks the mitral valve orifice
chamber.
Blocks diastolic filling of the ventricle, simulating mitral valve
stenosis
Clinical findings
Nonspecific findings
Fever, fatigue, malaise, anemia
Complications
Embolization, syncopal episodes (blocks mitral valve orifice)

Cardiac myoma
Rhabdomyoma

Most common primary tumor of the

heart in infants and children (Myxomas
occur in adults; rhabdomyomas occur in
children).
Major association with tuberous
sclerosis
Hamartoma (non-neoplastic) arising
from cardiac muscle

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