Congenital Cardiovascular Anomalies

dr. Herlina Dimiati, SpA (K)

SMF / Bagian Kardiologi Pediatrik RSU Dr. Zainal Abidin Fakultas Kedokteran Universitas Syiah Kuala Banda Aceh

Classification of CHDs
1. Structural heart defects due to abnormal development of the heart during the first 2 months after conception 2. Functional heart defects ex: congenital heart block 1. Positional heart defects ex: dextrocardia

Dextrocardia
May occur:
With Situs Inversus: carries a slightly increased risk of heart defects (~ 5 10% associated with other CHDs)

Without Situs Inversus: carries a greatly increased risk of associated heart defects (~95% associated with other CHDs)

Both conditions are EXTREMELY rare

Situs Inversus

Classifications of Structural Congenital Heart Defects

Increased Pulmonary Blood Flow
PDA ASD VSD AV Canal Total Anomalous Pulmonary Venous Return Truncus Arteriosis

Decreased Pulmonary Blood Flow

Tetralogy of Fallot Transposition of the Great Arteries Pulmonary Stenosis Pulmonary Atresia Tricuspid Atresia

Obstruction to Systemic Blood Flow

Coarctation of the Aorta Aortic Stenosis Hypoplastic Left Heart Syndrome Mitral Stenosis

Shunts
Right to Left vs. Left to Right Right to left shunt: un-oxygenated blood is shunted from the right side of the heart to the left side, and then enters the systemic circulation. Left to right shunt: a portion of the oxygenated blood is shunted from the left side of the heart to the right side and enters the pulmonary circulation, increasing the work load for the right heart

Cyanotic vs. Acyanotic

Acyanotic (usually left to right shunts):
PDA, ASD, VSD

Cyanotic (right to left shunts):

TOF, Transposition of the Great Arteries, Hypoplastic Left Heart O2 Sat less than 95% Child may have chronic hypoxia Caused by:

Decreased pulmonary blood flow and/or-Right-to-left shunting: de-oxygenated blood is shunted from the right side of the heart to the left side without traveling though the pulmonary circulation, and blood ejected from the left side of the heart to the systemic circulation is only partly oxygenated

Most Common Congenital Heart Defects

These account for 85% of all CHDs:

Atrioventricular Septal Defect 9% 44% 12% 15% 10% Coarctation of the Aorta 10% Tetralogy of Fallot Transposition of the Great Arteries Ventricular Septal Defects All other congenital heart defects

Some Statistics
Most common birth defect 30% of all congenital birth defects (36,000/yr in the United States)

Most common cause of infant death for children dying as the result of a birth defect In the US over 130,000 hospitalizations/year are related to CHD

Etiology of CHD
Unknown in most cases Incidence of CHD in children is slightly increased if a sibling or parent has CHD Gender Factors Environmental Factors Genetic Factors

Gender Factors
Occur equally among males and females, but
More common in males: aortic stenosis, coarctation of the aorta More common in females: PDAs, ASDs

Environmental Factors
Maternal Infections:
Rubella: PDA, pulmonary stenosis, VSD, ASD

Maternal Drugs:
Lithium: Tricuspid valve abnormalities, Ebsteins Anomaly Thalidomide Possibly related to CHDs: Dilantin & Cocaine Alcohol abuse: VSD

Maternal Disease:
Diabetes: transportation of the great vessels, VSD, situs inversus, single ventricle, hypoplastic left ventricle SLE: Congenital heart block

Genetic Factors
Trisomy 21 (Downs Syndrome):
A-V canal defects, VSD

XO (Turners Syndrome):
coarctation of the aorta, aortic stenosis

Osteogenesis Imperfecta:
Aortic incompetence

Marfan Syndrome:
Aortic dilatation, aortic & mitral incompetence

The good news is- From 1991 2001 deaths related to CHD declined 28% due to improvements in surgical techniques and medical management

Prevention of CHD
Not possible in most cases But -- there are actions a woman can take to reduce her risk of having a child with CHD:
Abstain from alcohol during pregnancy Be immunized against rubella before conception If diabetic, maintain tight control of blood sugars Folic acid 400 mcg/daily before conception may help to prevent CHD (unproven) If there is a family history of CHD seek genetic counseling prior to conception

Signs/Symptoms of CHD
Murmurs Cyanosis worsens with crying or other exertion Respiratory distress Signs of poor perfusion, such as slow capillary refill, diminished peripheral pulses Fatigue commonly observed during feedings in newborns or during play in children Failure to thrive

Embryonic Heart Development

The heart develops in the embryo during post-conception weeks 3 - 8

Beginning Development
Early week 3 post-conception: heart begins as 2 endothelial tubes Mid-week 3 : endothelial tubes fuse to form a tubular structure 28 days following conception: the singlechambered heart begins pumping blood

Week 4
Heart has:
single outflow tract, the truncus arteriosus (divides to form aorta & pulmonary veins) Single inflow tract, the sinus venosus (divides to form the superior and inferior vena cavae) Single atrium Single ventricle AV canal begins to close

Weeks 5 - 7
Week 5 AV canal closure complete Formation of atrial and ventricular septums Heart growing rapidly, and folds back on itself to form its completed anatomic shape Week 7 Ventricular septum fully developed Coronary Sinus forms Outflow tracts (aorta & pulmonary truck) fully separated

8 Weeks After Conception

By the end of the 8th week after conception the fetus has a fully developed 4-chambered heart

Fetal Circulation
Before birth the placenta provides the oxygen needed by the developing fetus the lungs receive only enough blood to perfuse the lung tissues due to high pulmonary vascular resistance & fetal vascular shunts

Fetal Circulation
Arterial blood in the fetus:
enters the fetal circulation via the umbilical vein: passes through the ductus venosus and enters the inferior vena cava flows into the right atrium and passes through the foramen ovale into the left side of the heart passes from the right side of the heart, through the ductus arteriosus to enter the systemic circulation, bypassing the pulmonary circulation

Fetal Circulation
Venous blood in the fetus:
returns to the placenta through the 2 umbilical arteries

After Birth
Lungs distend with air and pulmonary vascular resistance falls. Pulmonary blood flow increases The foramen ovale and ductus venosus usually close during the first day of life The ductus arteriosus usually closes during the first 24 72 hours of life

Common Congenital Heart Anomalies

Patent Ductus Arteriosus (PDA)

Usually closes within 24 to 72 hours after birth Closure of the ductus may be delayed, or not occur at all in preterm infants Patent PDA causes increased pulmonary blood flow, pulmonary congestion, increases the workload of the right ventricle; causes increased pulmonary venous return and increases workload of the right ventricle

PDA

Coarctation of the Aorta

Localized narrowing of the aorta More common in males than females Associated with Turners Syndrome Most common clinical sign: weak pulses & decreased blood pressure in the lower extremities

VSD
Most common congenital heart defect May occur alone, or with other abnormalities About one-third of small VSDs will close spontaneously

Truncus Arteriosus
Truncus fails to divide completely during fetal life, leaving a connection between the aorta and pulmonary arteries Mixed oxygenated and de-oxygenated blood exits the heart and enters the systemic circulation

Tetralogy of Fallot
TOF =
Ventricular septal defect Aorta position is shifted to the right and over-rides the VSD Stenosis of the pulmonary outflow tract, often involving the pulmonary valve Hypertrophy of the right ventricle

Transposition of the Great Vessels

The aorta originates from the right ventricle; the pulmonary artery originates in the left ventricle A PDA is necessary for these infants to survive until they can have corrective surgery More common in infants of diabetic mothers

Hypoplastic Left Heart

Fatal without early surgical intervention

TAPVR
The pulmonary veins, instead of being connected to the left ventricle, are connected to the right ventricle or superior vena cava, and return oxygenated blood to the right side of the heart.

AV Canal
Includes:
ASD VSD Abnormalities of the Mitral and/or Tricuspid valves

Greater incidence in children with Downs Syndrome