Cardiovascular malformations. Pathology of the endocardium

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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

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• 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.

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ECTOPIA CORDIS THORACICA NUDA

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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

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Malformations causing a shunt

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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

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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

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Septal defects

• Atrioventricular septal defect

• Atrial septal defect

• Ventricular septal defect

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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

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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

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FO patens

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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

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Right atrium

dx. ventricle

FO

Tricuspidal valve

Incomplete atrioventricular septal defect-ostium primum atrial septal defects

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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

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Right-to-left shunt malformations(cyanotic heart diseases)

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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

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• 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)

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Pulmonary stenosisVentricular septum defect (VSD)Aota overside VSDRight ventricular hypertrophy

Tetralogy of Fallot

The clinical presentation depends upon the degree of pulmonary stenosis.

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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

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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

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a.subclavia sin.

a.subclavia dx.

dx. arcus aortae

a.pulmonalis sin.

a.pulmonalis dx.

a.carotis comm. dx. et sin.

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Total anomalous pulmonary venous connection (TAPVC)

• = a total anomalous pulmonary venous return (TAPVR)

• Drainage of pulmonary venous return into the systematic venous circulation

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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

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Obstructive congenital anomalies

• Coarctation of the aorta

• Pulmonary stenosis and atresia

• Aortic stenosis and atresia

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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

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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

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Hypoplastic left heartsyndrome

• Stenosis of aortic valve

• Stenosis of mitral valve

• Bicuspid aortic valve

• Hypoplastic left ventricle

• Hypertrophia ventriculi dx. cordis.Firs

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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

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Congenital malformations of the valves

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Malformations of the valves

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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

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Pathology of the endocardium

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Pathology of the endocardium• Valvular abnormalities

– Congenital (discussed earlier)

– Acquired

• Infective Endocarditis

• Noninfected Vegetations

• Carcinoid Heart Disease

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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)

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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

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Mitral regurgitation

• Mitral valve prolaps

• Mitral annular calcification– usually does not affect valvular function

• Ruptured chorade tendineae

• Papillary muscle infarction

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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

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Endocarditis

• Inflammation of the endocardium, typicallyvalve surface

• Infectious

• Noninfectious

• Vegetations (thrombotic debris and microorganisms)

• Valve abnormalities and transient bacteriemiaincrease the risk of infection

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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

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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

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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

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Embolic complications

– 80% of patients have evidence of stroke on imaging

– 35% of patients with IE have symptomatic cerebrovascular complications

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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

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https://www.uptodate.com/contents/image?imageKey=ID%2F53004&topicKey=ID%2F2143&search=Osler%20nodes&rank=1~13&source=see_link

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fenestration of an aortic valve cusp as a consequence ofhealed infective endocarditis

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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)

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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

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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

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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

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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

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