Approach to patients with congenital heart

disease

Dr.Mazen Naghawi – Pediatric Cardiologist

Albasheer hospitalPediatric department

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”

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%

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.

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.

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

Majority of cases of the congenital heart

diseases are unknown cause

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%

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

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”

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

Cont-Common Lesions producing cyanosis

7. Truncus Arteriosus 8. Hypoplastic left heart 9. Single ventricle

10. TAPVR with infradiaphragmatic obstruction

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.

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.

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

-History of dysnea on exertion.

-Shortness of breathing.-Orthopnea.-Lower limbs swelling

-Palpitation. -Convulsion. -All may be manifest of congestive heart

failure.

Older child

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

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

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.

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

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.

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%

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

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).

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

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

Atrial Septal Defect

Enlargement of the right ventricle

Enlargement of atrium

Large pulmonary artery

increased pulmonary vascularity is.

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

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.

Primary Pulmonary Hypertension

Prominent pulmonary artery.

Prominent right ventricle

Prominent vascularity in the hilar areas

Decreased vascualr marking in the periphery.

No treatment

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”

Cyanotic

Tetralogy of Fallot

Ventricular septal defect

Pulmonic stenosis Overriding aorta Right ventricular

hypertrophy

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

Congestive Cardiac Failure

Enlarged heart

Plethoric lung fields specially at bases

Boot shaped heart in pt. with TOF

Snow man or figure8 in pt. with TAPVR

Cardiomegaly

Cardiomegaly with pulmonary edema

Ribs notching in pt. with Co-Ao

Situs inverses

Acrocyanosis:Bluish discoloration of the hands and feet commonly seen in newborns

Suffused face due to cold around neck and not central cyanosis

2D echo “Transthoraic echocardiography

3D Echocardiography

Transoseophageal echocardiography

Fetal echocardiography

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.

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.

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”

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)

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.

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.

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

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

Don’t forget prostglandine PGE2, AND indomethacine for selective cases of CHD

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.

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.

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.

Thanks