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Approach to patients with congenital heart
disease
Dr.Mazen Naghawi – Pediatric Cardiologist
Albasheer hospitalPediatric department
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Congenital heart disease
congenital cardiac malformations resulting from defective embryonic development without obvious cause.
Between 3-8 weeks “gestation” all the fetal heart structures are formed “organogenesis”
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Incidence
8-10/1000 live births in Jordan approximately 2000/ year
Incidence is more in :- a-Premature b-abortions c-still births Incidence increased for siblings. 2-6%,10-12%,25%
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Etiology
Multifactorial inheritance pattern “mostly”
Chromosomal abnormality (5-10%). -Trisomy 21 (50%) > A-V canal,VSD,ASD, others. -Trisomy 18 (80%)> VSD,ASD,others. -Trisomy 13 (40%)> VSD,ASD,PDA,others. -Turner syndrome (xo)>Bicuspid aortic valve and co-
ao -others.
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Adverse maternal conditions (enviromential) -Maternal infections >Rubella:PDA,PS
-Maternal diseases> PKU-VSD,ASD
DM:left septal hypertrophy
-Drugs>fetal hydntoin syndrome- VSD
Valproate effect-co ao left heart hypoplasia
-Fetal alcohol syndrome> VSD,ASD,CO-AO. -Advance maternal age.
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Syndrome complexes
-VACTREL syndrome Vertebral,Anorectal,Cardiac(VSD,TOF and others),tracheal,Renal,Oesophageal and
Limb abnormalities.
-CHARGE syndrome“Coloboma,Heart(VSD,TOF,A-V canal),
Atresia choanal,Retardation,Gential,Ear abnormalties.
-Kartagener syndrome Dextrocardia
-TAR syndrome
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Majority of cases of the congenital heart
diseases are unknown cause
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Classification
C.H.D with little or no cyanosis “acyanotic”a-With Lt. ventricular enlargement
ex.- PDA=8% ,CO-Ao= 5% - aortic stenosis =7%
b-With Rt. Ventricular enlargement ex.-ASD=10% ,PS=6%,MS c-With both ventricular enlargement ex.- VSD= 25%
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Common acyanotic lesions
Ventricular septal defects Atrial septal defects Atrio-ventricular septal defects Patent ductus arteriosus Truncus arteriosus Aortic stenosis Mitral stenosis/incompetence Coarctation of aorta Tricuspid regurgitation
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a-With decrease pulmonary vascularity ex.-TOF=5% , Tricuspid Artesia=1-3% - PS with or without VSD=5%
b-With increase pulmonary vascularity ex.-TGA =5% ,Truncus arteriosus=2% -TAPVR=1%
C.H.D with cyanosis “mainly Rt. Lt. shunt”
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Common Cyanotic Lesions
Decreased flow 1. Tetralogy of Fallot 2. Tricuspid Atresia 3. Severe Pulmonic Stenosis 4. Ebstein’s anamoly Increased Flow 5. Transposition of great vessles 6. VSD with pulmonary atresia
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Cont-Common Lesions producing cyanosis
7. Truncus Arteriosus 8. Hypoplastic left heart 9. Single ventricle
10. TAPVR with infradiaphragmatic obstruction
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Prevalence
Cyanotic: 22% Acyanotic: 68%
– VSD 25%– ASD 6%– PDA 6%– TOF 5%– PS 5%– AS 5%
Ceylon Med J 2001 Sep; 46 (3): 96-8; Indian J Pediatr. 2001 Aug;68 (8):757-7
Nelson’s Textbook of pediatrics; 17 ed.
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Diagnosis
Early diagnosis of C.H.D mean better results. 40% of C.H.D diagnosed at 1st w of life.50-60 % diagnosed at 1st two months .Others are usually later during routine medical examination.Diagnosis depend on good clinical history + good medical examination and investigations.
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History
Age of the patient.Ask for
-Feeding difficulties
-Vomiting-Lethargy -Increased perspiration -Rapid respiration-Hypoactivity-F.T.T
All may be manifestation of congestive heart failure.
Neonate
Infant
Sepsis
Metabolic disorders
Hypothermia
IVH
Others
D.D
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-History of dysnea on exertion.
-Shortness of breathing.-Orthopnea.-Lower limbs swelling
-Palpitation. -Convulsion. -All may be manifest of congestive heart
failure.
Older child
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Physical examination
Inspection look for: -Cyanosis
-Digital clubbing -Tachypnea -Prominence of the precordium (cardiomegaly,Rt.heart enlargement ) -Jugular veins engorgement “older children” -Any associated defects or findings (down syndrome, Digorge syndrome…etc) - Focal neurological lesion.
Palpation -Pulses (rate, rythem,volume,peripherial pulses ,brachio-femoral delay) -Cardiac impulses. -Thrill. -Hyper dynamic precordium. -Hepato-splenomegaly -Sacral edema(neonate, and infancy) ,Lower limb edema in older children
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Auscultation a-First heart sound (A-V valves closure)
“Best heard at the Lt. lower sternal border or apex”
b-Second heart sound (semilunar valve closure)
“Best heard on the 1st and 2nd I.C.S” , normally there is normal splitting of the 2nd heart sound ,
-Single Aortic atresia,Pulmonary Artesia -Fixed splitting ASD,PS,Rt.B.B.B
c-Murmurs
Systolic
Diastolic
Continous
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Blood pressure Methods sphingnonaometer(different cuffs) -Flush method -Palpation method -Doppler method Wide pulse pressure -Aortic insufficiency -A-V communication -PDA Low blood pressure(H.F, pericardial
tamponade,cardiomyopathy). Difference in BP between upper and lower
extremities Co-ao.
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If we suspect C.H.D Investigation
CBC---- polycythemia, anemia….etc CXR----heart size and shape ECG---HR,axis www.heartaxis.com
,rythm LVH,RVH,BVH,BBB. Echocardiography MRI Cardiac catheterization
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Cyanosis: is it a cardiac cause or lung cause Hyperoxia test
– Neonates with cyanotic congenital heart disease usually do not have significantly raised arterial Pao2 during administration of 100% oxygen.
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Ventricular Defect Small VSD
– Asymptomatic– A loud, harsh, or
blowing holosystolic murmur.
Large VSD– dyspnea, feeding
difficulties, poor growth, profuse perspiration, recurrent pulmonary infections, and cardiac failure in early infancy.
80%
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Ventricular Septal Defect (VSD)
Large VSD: The presence of right ventricular hypertrophy, olegeimic lung fields (pulmonary hypertension or an associated pulmonic stenosis), gross cardiomegaly with prominence of both ventricles, the left atrium.
Small VSDs, the chest radiograph is usually normal
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Ventricular Septal defects
30–50% of small defects close spontaneously, most frequently during the 1st 2 yr of life.
Small muscular VSDs are more likely to close (up to 80%) than membranous VSDs are (up to 35%).
infants with large defects have repeated episodes of respiratory infection and heart failure despite optimal medical management.
Surgical repair prior to development of an irreversible increase in pulmonary vascular resistance (usually prior to the patient's second birthday).
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Atrial Septal Defects: secundum Most common form
of ASD (fossa ovalis) In large defects, a
considerable shunt of oxygenated blood flows from the left to the right atrium.
Mostly asymptomatic
The 2nd heart sound is characteristically widely split and fixed.
Secundum
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Atrial Septal Defects:primum Situated in the lower portion
of the atrial septum and overlies the mitral and tricuspid valves. In most instances, a cleft in the anterior leaflet of the mitral valve is also noted.
Combination of a left-to-right shunt across the atrial defect and mitral insufficiency
C/F similar to that of an ostium secundum ASD
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Atrial Septal Defect
Enlargement of the right ventricle
Enlargement of atrium
Large pulmonary artery
increased pulmonary vascularity is.
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Atrial Septal Defects
Secundum ASDs are well tolerated during childhood.
Antibiotic prophylaxis for isolated secundum ASDs is not recommended.
Surgery or transcatheter device closure is advised for all symptomatic patients and also for asymptomatic patients with a Qp:Qs ratio of at least 2:1.
Ostium primum defects are approached surgically
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Patent Ductus Arteriosus Small defect no
symptoms. Large defect:
– Wide pulse pressure
– Enlarged heart– Thrill in L second
IS– Continuous
murmur– X-ray: prominent
pulmonary artery with increased vascular markings.
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Primary Pulmonary Hypertension
Prominent pulmonary artery.
Prominent right ventricle
Prominent vascularity in the hilar areas
Decreased vascualr marking in the periphery.
No treatment
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Cardiac disease with normal/decreased vasculature
Tetralogy of Fallot Pulmonary atresia Tricuspid atresia Endocardial fibroelastosis Aberrant left coronary artery Cystic medial necrosis IODM ‘septal hypertrophy”
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Cyanotic
Tetralogy of Fallot
Ventricular septal defect
Pulmonic stenosis Overriding aorta Right ventricular
hypertrophy
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Cardiac disease with increased vasculature
Atrioventricular septal defects Congestive cardiac failure Transposition of great arteries with
VSD Total anomalous pulmonary venous
drainage Truncus arteriosus Single ventricle without pulmonary
stenosis Hypoplastic left heart syndrome
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Congestive Cardiac Failure
Enlarged heart
Plethoric lung fields specially at bases
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Boot shaped heart in pt. with TOF
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Snow man or figure8 in pt. with TAPVR
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Cardiomegaly
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Cardiomegaly with pulmonary edema
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Ribs notching in pt. with Co-Ao
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Situs inverses
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Acrocyanosis:Bluish discoloration of the hands and feet commonly seen in newborns
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Suffused face due to cold around neck and not central cyanosis
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2D echo “Transthoraic echocardiography
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3D Echocardiography
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Transoseophageal echocardiography
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Fetal echocardiography
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Treatment of C.H.D
This is depend on the type of the C.H.D. No treatment (observation+reassurance) Medical
treatment(antifailure,antiarythmaic..etc). Surgical treatment (palliative or curative). Cardiac transplant or lung heart transplant.
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1-General measures Special positions. (semisiting ,knee chest position ( O2 (most patients need O2 and other need little O2). IVF(again depend on type of CHD , some need IVF as PDA and PS
, OTHERS need IVF when ever there are pulmonary congestion or volume overload).
Salt restriction. Exercise restriction. Rx of anemia. Rx of polycythemia. PCV>65 Avoidances of dehydration mainly polycythemic patients. Avoidances of high altitude. Avoidance of contraceptive “thrombosis+hypertension”. Correction of acidosis. Correction of electrolyte disturbances . Careful monitoring during surgery.
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2-Rx of congestive heart failure
– Digoxin Digitalization “0.04mg/kg”
Maintenance “0.01mg/kg”
– Loop diuretics “frusemide 1-2 mg/kg/day”.– Potassium sparing diuretics “spironlactone”– After load reducing agents eg. Captopril 0.5-6mg /kg/24 hours.– Positive intropic agents .”dopamine and
dobutamine”
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3-Rx of cardiac arrhythmias Digoxin (be aware of toxicity –nausia ,vomiting,AV block, K,
ca). Quinidine( hemolytic anemia.SLE,perodic paralysis) Procainamide(agranulocytosis,+ve coombs hemolytic
anemia) Lidocaine (confusion, convulsion,respiratory failure,AV –
block). Propranolol(bradycardia,bronchspasm,hypotension…
etc). Verapamil(bradycardia,PR interval prolongation,CHF). Adenosine(chest
pain,flushing,bronchospasm,bradycardia)
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4-Rx of the cyanotic spells Try to calm the patient . Knee chest position, O2 Propranolol IV. Morphine s.c NaHCO3 iv Increase IV fluid.
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5-Prophylaxis against infective endocarditis
By oral or parental antibiotics. Given in case of dental
procedures, urinary and GIT . Instrumental
“proctoscopy,cystescopy”. Now a days lot of controversy
about who should take the prophylactic antibiotics.
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New guidelines regarding antibiotics to prevent infective endocarditis
The American Heart Association recently updated its guidelines regarding which patients should take a precautionary antibiotic to prevent infective endocarditis (IE) before a trip to the dentist.
The guidelines, published in Circulation: Journal of the American Heart Association, are based on a growing body of scientific evidence that shows that, for most people, the risks of taking prophylaxis antibiotics for certain procedures outweigh the benefits. These guidelines represent a major change in philosophy.
The new guidelines show taking preventive antibiotics is not necessary for most people and, in fact, might create more harm than good. Unnecessary use of antibiotics could cause allergic reactions and dangerous antibiotic resistance.
Only the people at greatest risk of bad outcomes from infective endocarditis — an infection of the heart's inner lining or the heart valves — should receive short-term preventive antibiotics before common, routine dental and medical procedures.
http://www.americanheart.org/presenter.jhtml?identifier=3047051
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Patients at the greatest danger of bad outcomes from IE and for whom preventive antibiotics are worth the risks include those with:
1. artificial heart valves
2. a history of having had IE
3. certain specific, serious congenital (present from birth) heart conditions, including:- unrepaired or incompletely repaired cyanotic congenital heart disease, including those with palliative shunts and conduits- a completely repaired congenital heart defect with prosthetic material or device, whether placed by surgery or by catheter interventions, during the first six months after the procedure-any repaired congenital heart defect with residual defect at the site or adjacent to the site of a prosthetic patch or prosthetic device
4. a cardiac transplant which develops a problem in a heart valve
http://www.americanheart.org/presenter.jhtml?identifier=3047051
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Don’t forget prostglandine PGE2, AND indomethacine for selective cases of CHD
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Preventive measures
Avoid pregnancy above age of 38 year. Avoid smoking. Avoid alcohol. Avoid exposure to radiation. Avoid drugs intake before medical
consultation. Vaccination of all childbearing women
for rubella.
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Innocent murmur
It is functional,normal,insignificent. Patient is asymptomatic. Murmur heard on routine cardiac
examination without pathological causes.
Main age between 3-7 years. Incidence : up to 30% especially child
with fever,infections,anxiety,and with cardiac output, the incidence is decreased with age.
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Characteristics of the innocent murmur Mild murmur usually grade one. Brief in duration. Changing with position. No radiation. It is systolic,musical,shortand
ejectional. Best heard over Lt. lower sternal
and midsternal border.
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Thanks