Congenital Heart Disease

PEDIATRICS CONFERENCE

PATHOLOGY

OF

CONGENITAL HEART DISEASE

Boonyathee Sorawit MD.

Mar 25th , 2014

Epidemiology

Congenital heart disease occurs in 0.5–0.8% of live births.

Incidence is higher in stillborns (3–4%), spontaneous abortuses

(10–25%) and premature infants (about 2% excluding patent

ductus arteriosus [PDA])

About 2–3 in 1,000 newborn infants will be symptomatic with

heart disease in the 1st year of life.

The diagnosis is established by 1 week of age in 40–50% of

patients with congenital heart disease and by 1 month of age in

50–60% of patients.

Etiology

Caused by developmental abnormalities

Genetic factors

chromosomal abnormalities

outflow tract defect may cause by abnormal development of neural crest-

derived cell (region of chromosome 22)

Environmental factors, such as congenital infection or teratogens

Multifactorial: genetic, environmental, and maternal factors

The risk of recurrence of congenital heart disease increases if a

1st-degree relative (parent or sibling) is affected.

Chromosome Abnormalities

Down Syndrome (40%) AVSD, VSD

Trisomy 13 (80%) VSD, PDA

Trisomy 18 (100%) VSD, PDA

Turner’s Syndrome (35%) Coarctation of aorta

Marfan’s Syndrome Aortic aneurysm, MVP

Teratogen

Infection

Rubella PDA, peripheral PS

Drug

Dilantin PS, AS

Lithium Ebstein anomaly

Alcohol VSD, ASD

Retinoic acid Interrupted aortic arch, TGA, TOF

Maternal disease

Diabetes TGA, VSD, cardiomyopathy

SLE Complete AV block

Frequencies of CHD

VSD

ASD

Pulmonary stenosis

PDA

TOF

AVSD

42 %

10 %

8 %

7 %

5 %

5 %

How to Approach Congenital Heart Disease

History Taking

History of cardiology related

Heart Failure

Usually present in first year old

Tachypnea, Prolong feeding, Poor weight gain, Diaphoresis, pale

(sympathetic activity increased), Exercise intolerance

Cyanosis

Hypoxic Spell

Cyanosis, Tachypnea, Flaccid or loss of consciousness

Arrhythmia

Most common -> Supraventricular tachycardia

Neurologic Symptoms

Cerebral thrombosis, Brain Abscess

History Taking

Maternal and Perinatal History

History of drug used (Teratogen)

Birth weight

Family History

Usually prevalence 8 in 1,000

1st degree related increased in prevalence during 10 – 15 percent

Physical Examination

General Appearance

Finding dysmorphic feature

Vital Signs

Blood pressure -> Leg > Arm SBP 10-20 mmHg

Pulse

Weak Leg > Arm -> Coarctation of Aorta

Diminish pulse -> Cardiogenic shock or low cardiac output

Respiratory Rate (Upper limit)

< 1 month 60 /min

1 month – 1 year 50 /min

1 year – 5 years 40 /min

> 5 years 30 /mins


Jugular Venous Pressure

Suspected right-side heart failure

Cardiac Exam

Inspection -> Precordial bulging (RV volume overload)

Palpation

Apex : 4th Lt intercostal space midclavicular line

Thrill for grading murmur

Auscultation


Pulmonary Exam

Crepitation or Rales -> Pulmonary congestion

Complication : Pneumonia -> Left to Right Shunt

Liver and Spleen

Right-side heart failure -> Hepatomegaly or splenomegaly

Extremities

Edema -> Systemic venous congestion -> Right-side heart failure

Clubbing of finger -> Cyanotic heart

Chest X-Ray

Cardiovascular Structure

Location of Heart, Stomach and Liver

Levocardia, Mesocardia, Dextrocardia (Left, Central, Right)

Situs Solitus or Situs inversus

Chamber and Heart Enlargement

Cardiothoracic Ratio 50 – 60 %

Identified what chamber enlargement

Aorta

Right or Left Aortic Arch

Size of aorta

Chest X-ray

Pulmonary Vasculature

Increased pulmonary vasculature (Left to Right shunt)

Decreased pulmonary vasculature (Right to Left shunt, PS, PA)

Normal pulmonary vasculature (PS, AS)

Extracardiac Structure

Ribs and Vertebra

Diaphragm

Phrenic nerve paralysis, Diaphragmatic hernia

Lung parenchyma

Pneumonia or Atelectasis

Electrocardiography

Ventricular Hypertrophy (Right or Left)

Axis

Right Ventricular hypertrophy

• R wave >98th percentile in lead V1

• S wave >98th percentile in lead V6

• R wave in V1 + S wave in V6 >98th percentile

• R/S ratio >98 percentile in lead V1

• Right axis deviation

• qR pattern in V1

• Upright T wave in V1 (1 week old to 8 years old)

• RSR’ pattern in lead V1, where R’ >15 mm (<1

year old) or R’ >10 mm (>1 year old)

• Pure R wave in V1 >10 mm (newborn)

• RVH (by voltage criteria) with strain pattern

Left Ventricular Hypertrophy

• R wave >98th percentile in lead V6

• S wave >98th percentile in lead V1

• R wave in V6 + S wave in V1 >98th percentile

• Q wave >98th percentile in lead lll or V6

• R/S ratio >98th percentile in lead V6

• LVH (by voltage criteria) with strain pattern

Congenital heart disease

Cyanotic / Acyanotic

Three major categories:

left-to-right shunt

right-to-left shunt

obstruction

A shunt is an abnormal communication between chambers or

blood vessels

Direction and magnitude of shunt depends on

Size of defect

Relative pulmonary and systemic pressures

Relative pulmonary and systemic resistance

Congenital heart

disease

Cyanosis Acyanosis

Increase pulmonary

blood flow

Decrease pulmonary

blood flow

Normal pulmonary

blood flow

Increase pulmonary

blood flow

How to Approach Congenital Heart Disease

Acyanotic Congenital Heart Disease

Acyanotic Heart Disease

Left to Right Shunt

Increased pulmonary blood flow

Clinical -> Heart Failure

VSD, ASD, PDA, AVSD

Obstructive Lesions

Normal pulmonary blood flow

Clinical -> Exercise intolerance

PS, AS, Coarctation of aorta

Acyanosis

Increase pulmonary

blood flow

Normal pulmonary

blood flow

RVH LVHRVHLVH

ASD

PAPVR

PS

MSVSD

PDA

AVSD

AS

CoA



Atrial Septal Defect (ASD)

5 – 10 % of Total congenital heart diseases

2-fold of Female than male

Three types exist : primum, secundum and sinus venosus

The most common is the secundum type (Patent Foramen

Ovale; PFO)

Type of ASD

The Cardiovascular System

Cochard, Larry R., PhD, Netter's Atlas of Human Embryology, Updated Edition, Chapter 4, 83-111

Pathophysiology

Clinical Presentation

Usually incidental finding heart murmur without symptoms

1% of first year -> Developed heart failure

Clinical heart failure depended on shunt

Physical examination

Increased right ventricular impulse

Systolic ejection murmur at left upper sternal border (Relative PS)

Widely fixed split second heart sound -> prolong ejection time

Investigation for Diagnosis

Plain film (CXR)

can be normal is early stages +/- when the ASD is small

signs of increased pulmonary flow (shunt vascularity)

enlarged pulmonary vessels

upper zone vascular prominence

vessels visible to the periphery of the film

eventual signs of pulmonary arterial hypertension

chamber enlargement

right atrium

right ventricle

note : left atrium is normal in size & aortic arch is small to normal


Chest X-ray


Electrocardiography

Right axis deviation

Right atrial enlargement

Right ventricular hypertrophy (rsR’ in V1 80-90 %)

Complications

Right-side heart failure

Right side of the heart to work harder (Volume overload)

Arrhythmias

Atrial enlargement -> Atrial Fibrillation

Stroke

Clot pass Right to Left to Systemic circulation

Pulmonary Hypertension

Treatment

Ventricular Septal Defect (VSD)

Most common of congenital heart disease (20 – 30 %)

Type of VSD

Subpulmonic VSD

Perimembranous VSD

Inlet VSD

Muscular VSD

Pathophysiology


Depended on VSD size and Pulmonary vascular resistant

Small VSD

Usually asymptomatic

Can detect murmur in 1st or 2nd weeks after birth

Pansystolic murmur at Left lower parasternal border

Moderate to Large VSD

Developed heart failure in 1 – 2 months

Murmur same as small VSD and loud P2

Eisenmenger’s Complex


Consequence of a large preexisting left-to-right shunt

Pulmonary artery pressures approach systemic levels and the

direction of the flow becomes bidirectional or right to left.

The high pulmonary vascular resistance is usually established

in infancy (by age 2 years, except in ASD) and is sometimes

present from birth.


Left to Right Shut


(Shear stress / Circumferential stretch)

Endothelial dysfunction and vascular remodeling

(Smooth muscle cell proliferation, Increased in extracellular matrix, Intravascular thrombosis)

Increase in PVR

Inverted shunt : Right to Left

Cyanosis (Irreversible Process)


Plain Film

The chest radiograph can be normal with a small VSD.

Larger VSDs may show cardiomegaly

Left atrial enlargement

Right and left ventricle can be enlarged

A large VSD may also show features of pulmonary oedema, pleural

effusion or / and increased pulmonary vascular markings.


Chest X-ray


Electrocardiography

Small VSD : Normal EKG

Moderate VSD : LVH (R in Lead V6 high and can be found deep Q)

Large VSD : RVH and LVH

Treatment

Spontaneous Closure (35 –

40 % within 2 years)

Below 6 months that can’t

control heart failure or

recurrence pneumonia

6 – 24 months should

surgery in pulmonary

hypertension case

Atrioventricular Septal Defect (AVSD)

Endocardial cushion defect

4 – 5 % of Total congenital heart disease

40 % of Down Syndrome -> CHD

40 % of CHD in Down Syndrome -> AVSD

Type of AVSD

Complete AVSD

Primum ASD + Inlet VSD + Common AV valve

Partial AVSD

Primum ASD +/- Cleft of Mitral valve

Transitional (Intermediate) AVSD

Primum ASD + Small VSD but Separate Mitral and Tricuspid valve

Pathophysiology


Partial and Intermediate AVSD

Can be developed heart failure in infant

Cardiac murmur

Systolic ejection murmur (Relative PS)

Widely fixed split S2

Pansystolic murmur at Apex (MS)

Complete AVSD

Within 4-8 weeks after birth can be developed heart failure

Cardiac murmur same as above and Loud P2


Plain Film

Not specific can be found chamber enlargement

Increased Pulmonary Vasculature


Chest X-ray


Electrocardiography

Left superior QRS axis (Lead I : positive and aVF : negative)

Right ventricular hypertrophy or combine ventricular hypertrophy

Treatment

Patent ductus arteriosus (PDA)

9 – 12 % of Total

congenital heart

disease

2 fold of prevalence in

female than male

80 % of Low birth

weight (1,200 gm)

Ductus arteriosus

Lung expansion

PVR↓ , PBF↑, PO2↑ PGE2↓ Ductus arteriosus constriction

Functionally closed; immediately after birth (within 10-15hr)

Anatomical closure; a week to 10 days

→ Ligamentum arteriosum

Pathophysiology


Small duct with no LV volume overload (normal LV) and normal

PAP (generally asymptomatic)

Moderate PDA with predominant LV volume overload:

large LV with normal or reduced function (may present with left

heart failure)

Moderate PDA with predominant PAH:

pressure-overloaded RV (may present with right heart failure)

Large PDA:

Eisenmenger physiology with differential hypoxaemia and

differential cyanosis (lower extremities cyanotic, sometimes left

arm, too)


Plain Film

may vary depending on

isolated or associated with other cardiac anomalies

direction of shunt flow (right to left or left to right).

Can have cardiomegaly

predominantly left atrial and left ventricular enlargement


Chest X-ray


Electrocardiography

Small PDA : normal

Medium to Large PDA :

LA enlargement (wide P wave > 2.5 mm)

LV hypertrophy (R wave in lead V6 > 98th percentile)

+/- ST elevation (decreased diastolic filling time -> myocardial ischemia)

Treatment

Preterm with congestive heart failure

Restrict fluid with corrected anemia (Keep Hct > 45%)

Indomethacin should be used within 10 days

Low birth weight : 0.2 mg/kg in first dose and 2nd – 3rd dose q 12-24 hrs

< 2 days : 0.1 mg/kg

2-7 days : 0.2 mg/kg

> 7 days : 0.25 mg/kg

Small PDA

should perform intervention if more than 1 year old

Medium to Large PDA with clinical heart failure

should perform intervention as soon as possible

Treatment

Normal pulmonary blood flow


Coarctation of aorta (CoA)

6 – 8 % of Total congenital

heart disease

2-fold of prevalence in male

than female

35 % associated with Turner

syndrome

Type of Coarctation of aorta

Simple CoA -> +/- PDA

Complex CoA -> Associated

with other congenital heart

disease

Pathophysiology


Depended on severity of stenosis and other congenital heart

disease

critical CoA

Shock, Hypotension, Congestive heart failure

Ductal Dependent systemic blood flow

Anemia, Poor perfusion, Tachypnea

Weak pulse and BP Leg > Arm

Differential cyanosis Leg < Arm (Except Large PDA)

Adulthood may be present hypertension unknown caused

Systolic ejection murmur at left upper sternal border


Plain Film

rib notching

Compression of intercostal collateral arteries below rib

3 sign

Proximal to stenosis -> enlargement

Distal to stenosis -> narrow

pulmonary vascular marking normal

Chest X-ray


Electrocardiography

critical CoA

Right ventricular hypertrophy

Pumping of right ventricle -> ductus arteriosus -> descending aorta

Treatment

Critical CoA

Maintain Airway

Prostaglandin E 1 for opening ductus arteriosus

Coarctation repair

Treatment

Pulmonary Stenosis (PS)

25 – 30 % of total congenital heart disease

Type of pulmonary stenosis

Pulmonary valve stenosis

Infundibular stenosis

Pulmonary artery stenosis


Subinfundibular/infundibular:

asymptomatic or they may present with angina, dyspnoea, dizziness, or

syncope

Valvular:

Mild to moderate valvular PS (Usually asymptomatic)

Moderate PS can progress at the valvular level (calcification) or at the subvalvular

level, due to reactive myocardial hypertrophy

Severe stenosis

dyspnoea and reduced exercise capacity, and have a worse prognosis

Supravalvular:

asymptomatic or have symptom of dyspnoea and reduced exercise

capacity


Plain film

Non specific

normal heart size


Dilated pulmonary trunk or a main pulmonary artery

Electrocardiography



Right ventricle hypertrophy

Chest X-ray

Treatment

Mild PS

Follow up and aware bacterial endocarditis prophylaxis

Moderate to Severe PS

Balloon pulmonary valvuloplasty

Valvulotomy in case fail balloon valvuloplasty or dysplastic

pulmonic valve

Critical PS

Need ductus arteriosus should give prostaglandin E1 and corrected

anemia

Treatment

Aortic Stenosis (AS)

3-8 % of total congenital heart disease

4-fold of prevalence in male than female

Type of aortic stenosis

Aortic valve stenosis

Subaortic stenosis

Supravalvular aortic stenosis


90 % Asymptomatic

10 % developed heart failure in first year

2/3 occur in 1-2 months

Tachypnea, low birth weight, hepatomegaly

Critical AS

Cardiogenic shcok, poor perfusion

Ductal dependent systemic blood flow

+/- Difference cyanosis (Due to PA pass to Aorta)


Plain Film

Usually normal cardiac size

Critical AS -> Cardiomegaly

Electrocardiography

Critical AS


Right ventricle hypertrophy

In adulthood

Left ventricular hypertrophy

+/- inverted T wave or ST depression in lead V5 and V6 due to myocardial

ischemia in severe stenosis

Treatment

Mild AS

No specific treatment -> F/U clinical and echocardiogram q 1-2 year

Moderate AS (PPSG 50–75 mmHg) or EKG change or have

symptom

Balloon valvuloplasty or valvulotomy

Severe AS (PPSG > 75 mmHg)

Suggest Balloon valvuloplasty or valvulotomy even though no

clinical symptom

Critical AS

Prostaglandin E1

Inotropic drug

Treatment

Cyanotic Congenital Heart Disease

Acyanotic Heart Disease

Decreased pulmonary blood flow

Right ventricular outflow tract obstruction ->

right–to–left shunt


Can be developed to congestive heart failure and cyanosis

Cyanosis

Decrease pulmonary

blood flow

Increase pulmonary

blood flow

RVH CVHRVHLVH

TOF

PA/VSD

Critical PS

DORV/PS

TGA/VSD/PS

TGA

TAPVR

DORV

HLHS

PA/IVS

Tricuspid

atresia

Truncus

arteriosus

Decreased pulmonary blood flow


Tetralogy of Follot (TOF)

Most common in cyanotic congenital heart disease

9 % of total congenital heart disease

4 Common of defect

Ventricular septal defect

Pulmonary stenosis

Overriding of aorta


Pathophysiology


Early clinical presentation

A heart murmur in infancy and progressive cyanosis (from right to

left shunting at the ventricular level secondary to RVOTO).

Unoperated tetralogy carries a poor prognosis (.95% of patients

used to die before 40 years of age).

Late clinical presentation

Late survival after tetralogy repair is excellent, with a 35-year

survival of 85%.

Hypoxic Spell

Increased

Right to Left shunt

Hypoxia

Metabolic Acidosis

Hyperpnoea

Increased

systemic venous return

InfundibularSpasm

Decreased Systemic vascular resistance


Plain Film

Boot shape heart

Apex shift with pulmonary trunk indentation

Decreased pulmonary marking

Electrocardiography

Usually found Right ventricular hypertrophy

Chest X-Ray

Treatment

Hypoxic Spells (Emergency condition)

Knee-Chest Position

Control Crying

Oxygen supplement

Morphine 0.1 mg/kg (Sedate and reduce infundibular spasm)

IV Hydration and correct metabolic acidosis

+/- drug for increased systemic vascular resistance

Propranolol 1-4 mg/kg/day q 6-8 hrs

Correct Anemia

Surgery consideration

Treatment

Tricuspid Atresia (TA)


Hemodynamic

Blood can’t flow from right atrium to right ventricle

Right Atrium -> Left atrium (Via ASD) -> Left ventricle)

Clinical presentation

Developed cyanosis in 1 month

Large VSD and no pulmonary stenosis

Heart failure due to decreased pulmonary vascular resistance

Progressive cyanosis due to restrictive VSD

Progressive pulmonary stenosis -> Hypoxic Spell

Cardiac murmur

Pansystolic murmur at left lower sternal border (restrictive VSD)

Systolic ejection murmur (pulmonary stenosis)

Single second heart sound


Plain Film

Normal or minimal cardiomegaly

Decreased pulmonary vascular marking

Electrocardiography

Left superior QRS axis

R wave amplitude in lead V1 low (due to hypoplastic right ventricle)

+/- Left ventricular hypertrophy

Treatment

Newborn with severe cyanosis

Give PGE1 dose 0.05–0.1 mcg/kg/min for maintain ductus arteriosus

Consider modified Blalock-Taussig shunt

If restrictive ASD -> balloon atrial septostomy

Large VSD and no pulmonary stenosis

For prevent to develop heart failure -> pulmonary artery banding

Timing for Operation

6 – 12 months

Bidirectional Glenn shunt

Superior vena cava -> pulmonary artery

3 – 4 year

Fontan operation or total cavopulmonary shunt

Inferior vena cava -> pulmonary artery

Treatment



Transposition of Great Arteries (TGA)


Ventriculo-arterial discordance:

Left ventricle to pulmonary artery

Right ventricle to aorta

Pathophysiology


Pure TGA with small PFO and PDA

Cyanosis after birth, metabolic acidosis

Weak murmur, single second heart sound

TGA with VSD

Minimal cyanosis

Developed heart failure in 2-6 months

TGA with VSD with PS

Similar tetralogy of Fallot

Cyanosis but no clinical heart failure


Plain film

Cardiomegaly with a cardiac contours classically described as

appearing like an egg on a string.

Narrowing of the superior mediastinum as result of the aortic and

pulmonary arterial configuration.

Electrocardiography



TGA with VSD -> combined ventricular hypertrophy

Chest X-ray

Treatment

Severe Cyanosis

PGE1: dose 0.05– 0.1 mcg/kg/min for maintain ductus arteriosus

Correct metabolic acidosis and electrolytes

If persistent cyanosis

Atrial balloon septostomy then consider arterial switch operation that

should perform within 2 weeks

If more than 2 weeks -> Two-stage arterial switch operation

Pulmonary banding -> For Left ventricle hypertrophy

Arterial switch after 7-10 days of pulmonary banding

Treatment

TGA with VSD and PS -> Palliative operation

modified Blalock–Taussig shunt then considered definite surgery

if body weight 10-15 kgs for Ratelli Operation

Closed VSD and used conduit bridging between right ventricle and

pulmonary artery

Treatment

Truncus Arteriosus

< 1 % of total congenital heart disease

Common route between pulmonary artery and aorta

Type of Truncus arteriosus


Minimal Cyanosis

Can be developed heart failure in 1 month

Cardiac murmur : pansystolic murmur at left lower sternal

bonder

Single second heart sound


Plain Film

Cardiomegaly

Increased pulmonary marking

Electrocardiography

Left atrial enlargement

Combined ventricular hypertrophy

Treatment

Control heart failure during waiting for operation

Consider for Total repair (Should perform before 6 months)

Closed VSD

Connected conduit between right ventricle to pulmonary artery

If can’t do total repair

Pulmonary artery banding for prevent pulmonary vascular

obstructive disease

Treatment

Total Anomalous Pulmonary Venous Return

(TAPVR)

1.5 % of total congenital heart disease

Usually pulmonary vein must drainage into Left atrium but

blood returning from the lungs drains back to the right side of

the heart.

Pathophysiology

Type of TAPVR


56 % Symptom presented in first month

Minimal cyanosis

Sign of Heart failure

Systolic ejection murmur at left upper sternal border (Relative PS)


Plain film

The right heart is prominent

because of the increased flow volume

The supracardiac variant (type I) can classically depict a snowman

appearance on a frontal chest radiograph, also known as figure of 8

heart or cottage loaf heart .

Chest X-Ray


Electrocardiography


Right atrium enlargement


Treatment

Should perform Total repair as soon as possible

Double-outlet right ventricular (DORV)

Two Great Arteries (Aorta and Pulmonary Artery) both originate

from the right ventricle

Blood from the left ventricle passes across a VSD into the RV to

reach the great arteries

Double-outlet right ventricular (DORV)

Hypoplastic left heart syndrome (HLHS)

Left side of the heart is very poorly formed

Cannot support the main circulation.

Left ventricle and aorta are abnormally small (hypoplastic)

Treatment

Thank you for your kind attention.

Reference

Moss and Adams’ heart disease in infants, children, and

adolescents, 6 th ed. In: Allen HD, Gutgesell HP, Clark EB,

Driscoll DJ, eds. Philadelphia: Lippincott Williams & Wilkins,

2001:618-35.

The science and practice of pediatric cardiology, 2nd ed. In:

Garson A Jr, Bricker JT, Fisher DJ, Neish SR, eds. Baltimore:

Williams & Wilkins, 1998:1141–79.

Driscoll DJ. Left-to-right shunt lesions. Pediatr Clin North Am

1999;46:355–68.

Comprehensive surgical management of congenital heart

disease. In: Jonas RA, ed. London: Arnold, 2004:386-401.

Reference

Waldman JD, Wernly JA. Cyanotic congenital heart disease with

decreased pulmonary blood flow in children. Pediatr Clin North

Am 1999;46:385-404.

Victorica BE. Cyanotic newborns. In: Gessner IH, Victorica BE,

eds. Pediatric cardiology: a problem oriented approach.

Philadelphia, W.B. Saunders 1993:97-109.

Pediatric cardiac surgery. In: Mavroudis C, Backer CL, eds.

Philadelphia, Mosby 2003:383-97.

Picture Reference

http://radiopaedia.org

http://www.rch.org.au/cardiology/heart_defects/

Education

Congenital Heart Disease