Seminar 1
Seminars from internal medicine for the 5th year
Prof. Jiří Horák
CONGENITAL HEART DISEASE IN THE ADULT
Approx. 1% of all live births
Et.: aberrant embryonic development
 malformations are due to complex multifactorial genetic and
environmental causes;
 recognized chromosomal mutations account for < 10% of all cardiac
malformations
Pathophysiology
Changes in the heart and circulation are not static but rather progress from
fetal life to adulthood
Pulmonary hypertension
 common in many congenital cardiac lesions
 the causes of pulmonary vascular obstructive disease are unknown
(increased pulmonary blood flow, increased pulmonary arterial blood
pressure, elevated pulmonary venous pressure, erythrocytosis,
systemic hypoxemia, and acidosis have been implicated)
 Eisenmenger’s syndrome: a large communication between the two
circulations and right-to-left shunt because of high-resistance and
obstructive pulmonary hypertension
 The only known treatment is lung or total heart-lung transplantation
Erythrocytosis
 chronic hypoxemia in cyanotic congenital heart disease  increased
erythropoietin production  erythrocytosis
 compensated – hyperviscosity is rare, therapeutic phlebotomy is rarely
required
 decompensated – rising hematocrit, recurrent hyperviscosity
symptoms. Therapeutic phlebotomy  iron depletion  large number
of microcytic hypochromic red cells that are less capable of carrying
oxygen and less deformable in the microcirculation  hyperviscosity
and tissue hypoxia
 hemostasis is abnormal in cyanotic congenital heart disease; oral
contraceptives are contraindicated (risk of thrombosis)
 dehydration  reduction of plasma volume  symptoms of
hyperviscosity
 Th: removal of 500 ml of blood with isovolumetric replacement
Infective endocarditis
 antimicrobial prophylaxis is recommended for all dental procedures,
gastrointestinal and genitourinary surgery, and diagnostic procedures
such as proctosigmoidoscopy and cystoscopy
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Seminar 1
Seminars from internal medicine for the 5th year
Prof. Jiří Horák
ACYANOTIC CONGENITAL HEART DISEASE WITH A LEFTTO-RIGHT SHUNT
Atrial septal defect
Types:
- sinus venosus – high in the atrial septum
- ostium primum – adjacent to the AV valves, either of which
may be incompetent (common in Down’s syndrome)
- ostium secundum – most common
The left-to-right shunt causes diastolic overloading of the RV and
increased pulmonary blood flow.
Patients with atrial septal defect are usually asymptomatic in early life;
beyond the fourth decade, many develop atrial arrhythmias, pulmonary
arterial hypertension, bidirectional and then right-to left shunting of blood,
and cardiac failure.
Phys.: prominent RV cardiac impulse, palpable pulmonary artery
pulsation. The first heart sound is normal or split, increased flow across
the pulmonic valve  midsystolic pulmonary ejection murmur. The
second heart sound is widely split and is fixed. Increased flow across the
tricuspid valve  a middiastolic rumbling murmur may be present,
loudest at the 4th intercostal space and along the left sternal border.
Increase in the pulmonary vascular resistance  diminution of the left-toright shunt; both pulmonary and tricuspid murmurs decrease in intensity
and a diastolic murmur of pulmonic regurgitation appears; cyanosis and
clubbing appear.
ECG: varying degrees of RV and RA hypertrophy, Ist degree heart block
is common.
X-ray: enlargement of RV and RA, dilatation of the pulmonary artery and
its branches, increased pulmonary vascular marking.
Echo: pulmonary arterial and RV dilatation; anterior systolic
(paradoxical) or flat interventricular septal motion; the defect may be
visualized directly.
Th: operative repair, ideally in age 3 – 6 in patients in whom there is
significant left-to-right shunting.
Ventricular septal defect
Usually in the membranous portion of the septum. Spontaneous closure
may occur in patients with a small defect in early childhood.
Patients with large defects and pulmonary hypertension are at risk for
developing pulonary vascular obstruction  large defects should be
corrected surgically early in life when pulmonary vascular disease is still
reversible.
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Seminar 1
Seminars from internal medicine for the 5th year
Prof. Jiří Horák
In patients with severe pulmonary vascular obstruction (Eisenmenger
syndrome): exertional dyspnea, chest pain, syncope, and hemoptysis. The
right-to-left shunt leads to clubbing, cyanosis, and erythrocytosis. The
degree to which pulmonary vascular resistance is elevated before
operation is a critical factor determining prognosis.
Two-dimensional echocardiography with Doppler examination can
usually define the number and location of defects in the ventricular
septum and detect associated anomalies.
Th.: Operative corection is indicated when there is a moderate to large
left-to-right shunt with a pulmonary-to-systemic flow ratio > 1.5:1.0 in the
absence of high pulmonary vascular resistance.
Patent ductus arteriosus
Normally, the ductus is open in the fetus but closes immediately after
birth. In most adults with this anomaly, pulmonary pressures are normal
and shunt from aorta to pulmonary artery persist throughout the cardiac
cycle  thrill and a continous “machinery” murmur at the upper left
sternal edge. In adults with a large shunt, Eisenmenger syndrome has
usually developed. Severe pulmonary vascular disease  reversal of flow
through the ductus  unoxygenated blood is shunted to the descending
aorta, and the toes, but not the fingers, become cyanotic and clubbed
(differential cyanosis). The leading causes of death are cardiac failure and
infective endocarditis.
Th.: in the absence of severe pulmonary vascular disease, the patent
ductus should be surgically ligated or divided.
ACYANOTIC CONGENITAL HEART DISEASE WITHOUT A
SHUNT
Congenital aortic stenosis
Types: congenital valvular aortic stenosis, supravalvular aortic stenosis,
hypertrophic obstructive cardiomyopathy.
Congenital bicuspid aortic valve may become stenotic. Significant
obstruction causes concentric hypertrophy of the LV wall and dilatation of
the ascending aorta.
Th: surgical
Coarctation of the aorta
Usually distal to the origin of the left subclavian artery.
Most children and young adults with isolated coarctation are
asymptomatic. Headache, epistaxis, cold extremities, and claudication
with exercise may occur.
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Seminar 1
Seminars from internal medicine for the 5th year
Prof. Jiří Horák
Phys.: heart murmur, hypertension in the upper extremities and absent or
delayed pulsations in the femoral arteries.
Dg: X-ray, echo + Doppler, cardiac catheterization
Th: surgical
CYANOTIC CONGENITAL HEART DISEASE WITH
DECREASED PULMONARY BLOOD FLOW
Tricuspid atresia
Atresia of the tricuspid valve, an interatrial communication, hypoplasia of the
RV and pulmonary artery.
Clin: severe cyanosis
Th: surgical
Ebstein’s anomaly
Downward displacement of the tricuspid valve into the RV  tricuspid
regurgitation. Often the RV is hypoplastic. Atrial septal defect.
Clin: progressive cyanosis from the right-to-left atrial shunting, RV
dysfunction, or paroxysmal atrial tachyarrhythmias.
Dg: echocardiography + Doppler
Th: surgical
Tetralogy of Fallot
Ventricular septal defect, obstruction to RV outflow, aortic override
(straddle) of the ventricular septal defect, and RV hypertrophy.
The severity of obstruction to RV outflow is of fundamental significance.
Severe obstruction  marked reduction in pulmonary blood flow  large
volume of desaturated venous blood is shunted from right to left across the
ventricular septal defect  severe cyanosis, erythrocytosis and systemic
hypoxemia.
X-ray: coeur en sabot, the pulmonary vascular markings are diminished.
Echo, angiocardiography.
Th: corrective operation
Infective endocarditis
The proliferation of microorganisms on the endothelium of the heart results
in infective endocarditis. The vegetation is a mass of platelets, fibrin,
microcolonies of microorganisms, and scant inflammatory cells.
 Acute endocarditis – rapidly damages cardiac structures,
hematogenously seeds extracardiac sites, and, if untreated, progresses
to death within weeks
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Seminar 1
Seminars from internal medicine for the 5th year
Prof. Jiří Horák
 Subacute endocarditis – follows an indolent course; causes structural
cardiac damage only slowly; rarely causes metastatic infection and is
gradually progressive unless complicated (by embolism, ruptured
mycotic aneurysm)
In developed countries, incidence of infective endocarditis ranges from
1.5 – 6.2 cases per 100,000 population per year.
Etiology: streptococci 1/3, staphylococci 1/3, enterococci 8%, gramnegative 3%, others (Candida, actinomycetes, haemophilus etc.)
Ports of entry: oral cavity, skin, upper respiratory tract. Nosocomial
native valve endocarditis is largely the consequence of bacteremia arising
from intravascular catheters and less commonly from nosocomial wound
and urinary tract infection.
Other: prosthetic valve endocarditis, transvenous pacemaker, injection
drug users (often involves the tricuspid valve).
Pathogenesis: normal endothelium is resistant to infection and thrombus
formation. Endothelial injury causes aberrant flow and allows either
direct infection by virulent organisms or the development of an
uninfected platelet-fibrin thrombus (nonbacterial thrombotic endocarditis,
NBTE). The thrombus subsequently serves as a site of bacterial
attachment during transient bacteremia.
Clin: acute x subacute (low-grade fever)
Features: fever, chills and sweats, anorexia and weight loss, myalgias,
arthralgias, heart murmur, arterial emboli, splenomegaly, clubbing,
Osler’s nodes, subungual hemorrhages, petechiae
Lab: anemia, leukocytosis, microscopic hematuria, elevated ESR.
Dg: positive blood culture, endocardial involvement (echo, new valvular
regurgitation), predisposing heart condition or injection drug use,
vascular phenomena (arterial emboli, septic pulmonary infarcts, mycotic
aneurysms), glomerulonephritis etc.
Th: antimicrobial therapy – bactericidal antibiotics given parenterally for
prolonged periods of time.
Streptococci – penicillin G 2 – 3 MU i.v. q4h for 4 weeks (ev. +
gentamycin 1 mg/kg q8h), ceftriaxone 2 g/d i.v. for 4 weeks. Penicillinresistant streptococci – penicillin G 3 – 5 MU q4h + gentamycin 1 mg/kg
q8h for 4 – 6 weeks
Enterococci - penicillin G 3 – 5 MU q4h + gentamycin 1 mg/kg q8h for 4
– 6 weeks; ampicillin 2 g q4h i.v. + gentamycin 1 mg/kg q8h for 4 – 6
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Seminar 1
Seminars from internal medicine for the 5th year
Prof. Jiří Horák
weeks; vancomycin 15 mg/kg i.v. q12h + gentamycin 1 mg/kg q8h for 4
– 6 weeks
Staphyloccoci – nafcillin or oxacillin 2 g q4h i.v. for 4 – 6 weeks +
gentamycin 1 mg/kg q8h for 3 – 5 days; cefazolin 2 g q8h i.v. for 4 – 6
weeks + gentamycin 1 mg/kg q8h for 3 – 5 days; vancomycin 15 mg/kg
i.v. q12h for 4 – 6 weeks
Methicillin resistant, infecting prosthetic valves: vancomycin 15 mg/kg
i.v. q12h for 6 – 8 weeks + gentamycin 1 mg/kg q8h for 2 weeks +
rifampin 300 mg p.o. g8h for 6 – 8 weeks
Prophylaxis
High risk
prosthetic heart valves
prior bacterial endocarditis
complex cyanotic congenital heart
disease
patent ductus arteriosus
coarctation of the aorta
Moderate risk
congenital cardiac
malformation
acquired aortic and mitral
valve dysfunction
hypertrophic cardiomyopathy
mitral valve prolaps
Antibiotic regimens for prophylaxis of endocarditis
1. Oral cavity, respiratory tract, or esophageal procedures
A. Standard regimen
 Amoxicillin 2.0 g p.o. 1 hr before procedure
B. Penicillin allergy
 Clarithromycin 500 mg p.o. 1 hr before procedure
 Cephalexin 2.0 g p.o. 1 hr before procedure
 Clindamycin 600 mg p.o. 1 hr before procedure
2. Genitourinary and GIT procedures
A. High-risk patients
 Ampicillin 2.0 g i.v. or i.m. plus gentamycin 1.5
mg/kg i.v. or i.m. within 30 min before procedure;
repeat ampicillin or amoxycillin 6 h later
B. High-risk, penicillin-allergic patients
 Vancomycin 1.0 g i.v. over 1 – 2 h plus gentamycin
1.5 mg/kg i.v. or i.m. within 30 min before
procedure
C. Moderate-risk patients
 Amoxicillin 2.0 g p.o. 1 hr before procedure
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Seminar 1
Seminars from internal medicine for the 5th year
Prof. Jiří Horák
Rheumatic fever
The disease has become rare in the industrialized countries but in many
developing countries it remains a significant public health problem.
Epidemiology: As is the case for streptococcal sore throat, acute RF most
often occurs in children between 5 and 15 years.
Epidemiologic risk factors: lower standards of living, crowding, the organism
itself and the degree of host immunity.
Approx. 3% of individuals with untreated group A streptococcal pharyngitis
will develop RF.
Pathogenesis: the hypothesis of „antigenic mimicry“ between human and
streptococcal antigens.
Dg: Jones criteria (1992 update)
Major Criteria
Minor Criteria
Carditis
Clinical
Migratory polyarthritis
Fever
Sydenham’s chorea
Athralgia
Subcutaneous nodules
Laboratory
Erythema marginatum
Elevated acute phase reactants
Prolonged PR interval
plus
Supporting evidence of a recent group A streptococcal infection (e.g. positive
throat culture and/or elevated or increasing streptococcal antibody test)
Carditis = pancarditis, occurs in 40 – 60% of cases. Sinus tachycardia, the
murmur of mitral regurgitation, an S3 gallop, a pericardial friction rub,
cardiomegaly and ECG changes. Healing of the rheumatic valvulitis may
cause fibrous thickening and adhesion, resulting in valvular stenosis and/or
regurgitation. The mitral valve is involved most frequently.
Migratory polyarthritis is present in ~ 75% of cases (ankles, wrists, knees,
and elbows). It is extremely painful.
Sydenham’s chorea occurs in < 10% of cases. The latent period between the
onset of streptococcal infection and the onset of Sydenham’s chorea may be
as long as several months.
Subcutaneous nodules and erythema marginatum are rare major
manifestations.
Either two major criteria, or one major criterion and two minor criteria, plus
evidence of an antecedent streptococcal infection are required for diagnosis.
Th: a) anti-streptococcal antibiotic therapy
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Seminar 1
Seminars from internal medicine for the 5th year
Prof. Jiří Horák
 all patients with acute RF should be treated as if they have a group A
streptococcal infection: oral penicillin V or erythromycin (4x250 mg)
for 10 days, or benzathine penicillin G 1.2 MU i.m.
 secondary prophylaxis should follow: oral PNC V 250 mg twice daily
or benzathine penicillin G 1.2 MU i.m. every 4 weeks (or 3 weeks in
high risk individuals) or oral sulfadiazine 1.0 g daily. Secondary
prophylaxis should last 5 years at least, perhaps for life in some
patients.
b) therapy for the clinical manifestations:
 arthritis – salicylates up to 4 x 2 g daily for 4 – 6 weeks according to
ESR; there are no conclusive data to support NSAID administration;
prednison is not indicated for arthritis
 carditis: prednisone up to 120 mg daily in severe carditis; later,
salicylates may be added and prednisone tapered (4 – 6 weeks).
Neither salicylates nor prednisone influence the future development of
valvular heart disease.
 Complete bed rest is indicated at the beginning of the disease only.
Full activity should not be resumed until signs of inflammation have
abated and the acute phase reactants have returned to normal.
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