cardiovascular malformations. pathology of the endocardium · congenital heart disease...
Post on 03-Jul-2019
215 Views
Preview:
TRANSCRIPT
Cardiovascular malformations. Pathology of the endocardium
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Congenital heart disease
• Abnormalities of the heart or great vessels that arepresent at birth
• One the most prevalent birth defects
• 3.- 8. week cardiovascular system development→faulty embryogenesis
• Sporadic genetic abnormalities
• Genetics factors, environmental factors
First F
aculty
of M
edici
ne Char
les U
nivers
ity
• Abnormal cordis development and position
• Septal defects
• Malformations of the great vessels
• Malformations of the heart valves
• Malposition of coronary arteries
• Anomalous pulmonary venous connection
• Patent ductus arteriosus
Cardiovascular malformations.
First F
aculty
of M
edici
ne Char
les U
nivers
ity
ECTOPIA CORDIS THORACICA NUDA
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Classification according to the functionalchanges
Malformations:
left- to-right shunt right-to-left shunt obstruction
Shunt = an abnormal communication between chambers or blood vessels
With shunt Without shunt
Cyanotic Non- cyanoticNon- cyanotic
Cyanosis = a bluish discoloration of the tissues - results when the absolute level of reduced hemoglobin in the capillary bed exceeds 3 g/dL
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Malformations causing a shunt
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Left-to-right shunt malformations• Increased pulmonary blood flow
• Initially without cyanosis, but
• => ↑ blood volume + ↑pulmonary pressure
→ pulmonary vascular changes
→ right heart hypertrophy
→ right-left shunt with cyanosis(Eisenmenger syndrome)Firs
t Fac
ulty o
f Med
icine C
harles
Unive
rsity
CLINICAL MANIFESTATIONS
• Respiratory distress– Tachypnea due to interstitial edema
– Increased vulnerability to viral infections
• Tachycardia and diaphoresis (sweating) due to increased release of catecholamines
• Poor weight gain resulting from increased caloric demands and myocardial oxygen demands
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Septal defects
• Atrioventricular septal defect
• Atrial septal defect
• Ventricular septal defect
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Septal defects
• Atrial septal defect– foramen ovale apertum
– (foramen ovale patent - failure to close a foramen)
– secundum atrial septal defect (defect in fossa ovalis)
• Atrioventricular septal defect– complete
– incomplete
• Ventricular septal defect– membranous
– muscularFirst F
aculty
of M
edici
ne Char
les U
nivers
ity
Septal defects• Atrial septal defect (ASD)
– Second most common cause of left-to-right shunt– 10 – 15 % of congenital heart disease– foramen ovale apertum
– Secundum ASD (defect in fossa ovalis)• 90% ASD
– Primum ASD (belongs into incompleteatrioventricular septal defects)
• 15-20 % ASD
– Sinus venosus ASD– Coronary sinus ASD
X
Foramen ovale patent = failure to closea foramen - is not considered an ASD because no septal tissue is missing• 30 % of the adult population
First F
aculty
of M
edici
ne Char
les U
nivers
ity
First F
aculty
of M
edici
ne Char
les U
nivers
ity
FO patens
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Septal defects
• Atrioventricular septal defect– 4-5 % of congenital heart defects
– strong association with Down syndrome• 40-50 % risk of Down syndrome in fetuses in whom an AV
canal defect is detected
– complete
– incomplete (ostium primum atrial septal defects (ASDs)
• deficiency in the inferior portion of the atrial septum immediately superior to the AV valves and have 2 valve orifices
First F
aculty
of M
edici
ne Char
les U
nivers
ity
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Right atrium
dx. ventricle
FO
Tricuspidal valve
Incomplete atrioventricular septal defect-ostium primum atrial septal defects
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Ventricular septal defect• One of the most common congenital heart lesions (second only to
bicuspid aortic valve)• primary anomaly or component of a wide variety of intracardiac
anomalies (tetralogy of Fallot (TOF), complete atrioventricular (AV) canal defects, transposition of great arteries..)
• Membranous– 80% of all VSD– may extend into the muscular septum
then referred to as a perimembranous (or paramembranous) VSD.
• Muscular– Often close spontaneously
• Holosystolic murmur.• Spontaneous closure - in up to 50% of patients (particularly - limited
to the muscular septum)Firs
t Fac
ulty o
f Med
icine C
harles
Unive
rsity
First F
aculty
of M
edici
ne Char
les U
nivers
ity
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Right-to-left shunt malformations(cyanotic heart diseases)
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Right-to-left shunt malformations(cyanotic heart diseases)
• Poorly oxygenated blood
• Hypoxemia
• Cyanosis at the time of birth-blueness of the tissues (blue baby)
• Dyspnea
• Growing retardation
• Clubbing of the tips of the fingers(hypertrophic osteoarthropathy)
• Polycythemia
• Paradoxical embolism (emboli from the veins → systemic circulation)
Blood skip the lungs
First F
aculty
of M
edici
ne Char
les U
nivers
ity
• CARDIAC CAUSES OF CYANOSIS
mnemonic - "five Ts" of cyanotic congenital heart
disease (CHD):
• Tetralogy of Fallot (TOF)
• Transposition of the great arteries (TGA)
• Truncus arteriosus persistent
• Total anomalous pulmonary venous connection (TAPVC)
• Tricuspid valve abnormalities
Right-to-left shunt malformations(cyanotic heart diseases)
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Pulmonary stenosisVentricular septum defect (VSD)Aota overside VSDRight ventricular hypertrophy
Tetralogy of Fallot
The clinical presentation depends upon the degree of pulmonary stenosis.
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Transposition of the great arteries
aorta arises from the right ventricle pulmonary artery from the left ventricle
The pulmonary and systemic circulations function in parallel - incompatible with prolonged survival
3 common sites for mixing of blood:• Patent foramen ovale or ASD• Ventricular septal defect• Patent ductus arteriosus
1/3 of patients - the coronary artery anatomy is abnormal
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Truncus arteriosus persistens
• Single great vessel arises from the heart• The aorta, pulmonary arteries, and coronary
arteries all originate from the ascending portion of this single vessel
First F
aculty
of M
edici
ne Char
les U
nivers
ity
a.subclavia sin.
a.subclavia dx.
dx. arcus aortae
a.pulmonalis sin.
a.pulmonalis dx.
a.carotis comm. dx. et sin.
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Total anomalous pulmonary venous connection (TAPVC)
• = a total anomalous pulmonary venous return (TAPVR)
• Drainage of pulmonary venous return into the systematic venous circulation
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Tricuspid valve abnormalities
https://www.uptodate.com/contents/image?imageKey=CARD%2F79822&topicKey=PEDS%2F5780&source=see_link
• Tricuspid atresia• no communication between the right atrium and right ventricle→ a total
and obligatory right-to-left atrial shunt
• Tricuspid stenosis • usually seen with hypoplastic right ventricle and atrial septal defect
• Ebstein anomaly• malformation of the tricuspid valve
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Obstructive congenital anomalies
• Coarctation of the aorta
• Pulmonary stenosis and atresia
• Aortic stenosis and atresia
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Coarctation of the aorta• Narrowing of the descending aorta
– at the insertion of the ductus arteriosus just distal to the left subclavian artery
• Left ventricular pressure overload
• In past - preductal (infantile, R→L), postductal (adult, L → R)
• But -probably - all coarctations areregarded - juxtaductal
• With or without persistent ductusarteriosus, bicuspid aortic valve…
• Presentation - weak femoral pulses, systemic hypertension, or a systolic pressure gradient >10 mmHg between the right arm and leg.
• Turner syndromeFirs
t Fac
ulty o
f Med
icine C
harles
Unive
rsity
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Aortic stenosis and atresia
• Narrowings of aortic valve(commisuraes, annulus)Left heart hypertrophy• A congenitally abnormal valve• Calcific disease• Rheumatic valve disease
• The classic triad of symptoms:– Chest pain– Heart failure– Syncope
Atresia• Hypoplastic left heart
syndrome First F
aculty
of M
edici
ne Char
les U
nivers
ity
Hypoplastic left heartsyndrome
• Stenosis of aortic valve
• Stenosis of mitral valve
• Bicuspid aortic valve
• Hypoplastic left ventricle
• Hypertrophia ventriculi dx. cordis.Firs
t Fac
ulty o
f Med
icine C
harles
Unive
rsity
First F
aculty
of M
edici
ne Char
les U
nivers
ity
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Pulmonary stenosis and atresia• Obstruction of right ventricle outflow at the pulmonary valve
• Isolated or part of tetralogy of Fallot
• Right to left shunting through FO or an atrial septal defect
• Mild stenosis may be asymptomatic
• Valvar, supravalvar, or subvalvar
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Congenital malformations of the valves
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Malformations of the valves
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Bicuspid aortic valve
• One of the most common types of congenital heart disease - 1% of thepopulation
• The male-to-female ratio is 2:1 or greater
• 2 leaflets or cusps, usually of unequal size
• Risk factor for aorticdilatation and dissection
• Sclerosis and calcificationFirst F
aculty
of M
edici
ne Char
les U
nivers
ity
Pathology of the endocardium
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Pathology of the endocardium• Valvular abnormalities
– Congenital (discussed earlier)
– Acquired
• Infective Endocarditis
• Noninfected Vegetations
• Carcinoid Heart Disease
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Acquired valvular abnormalities• Aortic stenosis
– calcification and sclerosis of anatomically normal orcongenitally bicuspid aortic valves
• Aortic insufficiency– dilation of the ascending aorta (secondary to hypertension
and/or aging
• Mitral stenosis– rheumatic heart disease
• Mitral insufficiency– myxomatous degeneration (mitral valve prolapse)
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Calcific aortic stenosis
• Similar mechanism and risk factors to that of vascular atherosclerosis
• Valvular degeneration and the deposition of hydroxyapatite– Abnormal valves contain cells resembling osteoblasts (synthesis
of bone matrix proteins and promoting the deposition of calcium salts)
• → Calcified mass within valvular cusps withoutcommissural fusion x rheumatic (and congenital) aortic stenosis
• Bicuspid valve earlier
• Left ventricule myocardium hypertrophy• Ischemia of myocardium• Heart failure, syncope…Firs
t Fac
ulty o
f Med
icine C
harles
Unive
rsity
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Mitral regurgitation
• Mitral valve prolaps
• Mitral annular calcification– usually does not affect valvular function
• Ruptured chorade tendineae
• Papillary muscle infarction
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Mitral valve prolapse (MPV)
• 2-3% of the population; 7: 1 female-to-male ratio• sporadic or familial
– connective tissue disorders - Marfan syndrome, Ehlers-Danlossyndrome)
– 75% of patients with Marfan syndrome have MVP
• myxomatous degeneration of the mitral valve leaflets• enlarged, redundant, thick, and rubbery leaflets• during systole – leaflets prolapse or balloon back into the left atrium
• most patients - asymptomatic or nonspecific symptoms• Complications:
– infective endokarditis– mitral insufficiency (chordal rupture)– embolism of leaflet thrombi– 50-60% increased risk of atrial and ventricular arrhythmias in patients with
myxomatous MVPFirst F
aculty
of M
edici
ne Char
les U
nivers
ity
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Endocarditis
• Inflammation of the endocardium, typicallyvalve surface
• Infectious
• Noninfectious
• Vegetations (thrombotic debris and microorganisms)
• Valve abnormalities and transient bacteriemiaincrease the risk of infection
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Infective endocarditis (IE)
• infection of the endocardial surface of the heart
• Acute– destructive infection with highly virulent agent; fever,
chills, weakness; high mortality rate
• Subacute– protracted course (weeks, months); flu-like symptoms; low
virulent agent
• Infectious agents: streptococci (viridans), staphylococci(aureus)Firs
t Fac
ulty o
f Med
icine C
harles
Unive
rsity
Risk factors
• Degenerative valvular disease– 60 -75% of patients have valve disease
• Prostethic valves + intracardiac device• Immunodeficiency + HIV• Malignancy• Alcohol abuse• Drug abuse• Diabetes mellitus• Dental infection
• Injuries, surgical and dental procedure• Antibiotic prophylaxis
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Endocarditis-clinical findings• Heart murmurs from valvar insufficiency in approximately 85% of
patients• Infectious symptoms• Fever (low-grade and intermittent - 90% of patients)
• Embolic complications– brain, renal, splenic infarction (septic infarcts)
• Microemboli– splintes or subungual hemorrhages, retinal hemorrhages (Roth spots)
• Immunological complications– glomerulonephritis, Janeway lesions (nontender erythematous
macules on the palms and soles), Osler nodes (tender subcutaneous violaceous nodules mostly on the pads of the fingers and toes)
• Heart failure• Microbiologic evidence
– positive blood cultures
Treatment: antibiotics + surgeryFirs
t Fac
ulty o
f Med
icine C
harles
Unive
rsity
Embolic complications
– 80% of patients have evidence of stroke on imaging
– 35% of patients with IE have symptomatic cerebrovascular complications
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Diagnosis• The modified Duke criteria - based on pathologic and clinical criteria
– definite IE, possible IE, rejected IE
https://www.uptodate.com/contents/image?imageKey=ID%2F73023&topicKey=ID%2F2143&search=Osler%20nodes&rank=1~13&source=see_link
First F
aculty
of M
edici
ne Char
les U
nivers
ity
https://www.uptodate.com/contents/image?imageKey=ID%2F53004&topicKey=ID%2F2143&search=Osler%20nodes&rank=1~13&source=see_link
First F
aculty
of M
edici
ne Char
les U
nivers
ity
First F
aculty
of M
edici
ne Char
les U
nivers
ity
First F
aculty
of M
edici
ne Char
les U
nivers
ity
fenestration of an aortic valve cusp as a consequence ofhealed infective endocarditis
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Noninfected (sterile) vegetations
• Vegetation do not contain microorganisms (1-5 mm), do not elicit any inflammatory reaction
• Nonbacterial thrombotic endocarditis– In hypercoagulable state– Carcinomas- especially mucinous adenocarcinomas
– Due to structural valve disease or hypercoaguability
• Endocarditis of systemic lupus erythematosus(SLE)(Libman-Sacks)
First F
aculty
of M
edici
ne Char
les U
nivers
ity
First F
aculty
of M
edici
ne Char
les U
nivers
ity
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Rheumatic fever and rheumatic heart disease
• Immunologically mediated multisystem inflammatorydisease
• Triggered by an autoimmune reaction to infection with group A streptococci– Combination of antibody- and T cell–mediated reactions– Antibodies against streptococci cross react with human cardiac
antigens such as myosin and valvular endothelium– Occurs few weeks after infection (pharyngitis)
• Acute phase– Rheumatic fever– Pancarditis (myocardium, endocardium, and epicardium)
• Chronic phase– Rheumatic heart disease
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Acute phase rheumatic fever• rheumatoid fever - multisystem disease characterized by involvement of the
heart, joints, central nervous system, subcutaneous tissues, and skin.
• Except for the heart, most of these organs are only mildly and transiently affected !!!!
• Heart - pancarditis– Inflammatory lesions - pancarditis – Aschoff bodies
• T lymphocytes, Anitschkow cells (plump activated macrophages)
– Inflammatory lesions – epicarduim - fibrinoid necrosis within the cusps or tendinous cords - small (1 to 2 mm) vegetations - verrucae.
• Joints– Migratory polyarthritis of the large joints
• Skin and subcutis– Erythema marginatum– Subcutaneous nodules
• Central nervous system – Sydenham chorea (involuntary rapid, purposeless movements)..Firs
t Fac
ulty o
f Med
icine C
harles
Unive
rsity
First F
aculty
of M
edici
ne Char
les U
nivers
ity
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Rheumatic heart disease (RHD)- chronic phase
• Mainly mitral valve is affected– roughly in 2/3 RHD -mitral valve only– ¼ along with the aortic valve – Leaflet thickening, calcification, commissural fusion and
shortening, chordal thickening, fusion and shortening– Fibrosis, neovascularization
• Latent period 20-40 years• Mitral stenosis and/or regurgitation
– valvular commissures create “fish mouth” or “buttonhole”stenoses
• Atrial dilatation (mural thrombi), pulmonaryhypertensionFirs
t Fac
ulty o
f Med
icine C
harles
Unive
rsity
First F
aculty
of M
edici
ne Char
les U
nivers
ity
First F
aculty
of M
edici
ne Char
les U
nivers
ity
Carcinoid heart disease
• Carcinoid syndrome - systemic disorder - caused by bioactive compounds (such as serotonin) released by carcinoid tumors
• Carcinoid syndrome (serotonin): flushing, nausea, vomiting, diarrhea, dermatitis, and bronchoconstriction
• Carcinoid heart disease• Usually in case of liver metastases• Involves endocardium and right heart• Fibrous intimal thickening of cardiac chambres and valves
First F
aculty
of M
edici
ne Char
les U
nivers
ity
First F
aculty
of M
edici
ne Char
les U
nivers
ity
top related