Congenital Heart Disease/Defects

Name of heart Classification of Location Murmur? Other notes:

defect heart defect
Ventricular Left to right Defect can be located in either the Yes, if shunt is Increased incidence in males, 1.9/1000 live births
septal defect shunt muscular or the membranous portion of functional
(VSD) the ventricular septum (membranous
*most common portion is more common, muscular
major CHD* portion defects often close
spontaneously when muscle
hypertrophies)
Atrial Septal Left to right Three varieties: Secundum Type defect Yes, if shunt is 20-25% of the population has a probe patent foramen
Defect (ASD) shunt involves a patent forament ovale (most functional ovale but it is not a functional shunt
common), Primum type occurs at the 0.7/1000 live births
site of the original foramen primum, more common in females
sinus venosus type is RARE
Often asymptomatic until adulthood
Endocardial Left to right Yes, if shunt is Ranges in severity
Cushion Defect shunt at atrial functional 2% of all CHD
(ECD) and ventricular Increased incidence in children with Down Syndrome
Also called AV levels
Septal defect/ AV
canal defect
Patent Ductus Left to right Shunt between the aorta and the Continuous Amount of shunting depends on diameter of the opening,
Arteriosus shunt pulmonary trunk that typically closes murmur if shunt difference in pressure between the aorta and the
(PDA) shortly after birth is functional pulmonary trunk, and the vascular resistance in the
(machine systemic and pulmonary circulations
murmur) 1/2000 live births
More common in females/premature infants
Closure of PDA: antiprostaglandins
Tetralogy of Cyanosis Narrowing of pulmonary trunk Only if there is Degree of cyanosis is variable
Fallot (TOF) VSD significant 0.5/1000 live births
*most common Overriding aorta pulmonary 6% of all CHD
type of cyanotic Hypertrophy of the R ventricle stenosis More common in males
heart defect*
Complete Cyanosis Discordance in the connection of the No Shunt must be created (Or the ductus arteriosus must be
Transposition of outlet vessels and the ventricles: Aorta maintained open) or death will occur
the Great is connected to R ventricle and 0.3/1000 live births
vessels (TGV) pulmonary trunk is connected to the L 5-10% of all CHD
ventricle (REVERSED)  oxygenated Twice as common in males
blood is trapped in the pulmonary 2/3 also have a VSD
circulation and unoxygenated blood is
trapped in the systemic circulation
 SEPARATE, PARALLEL
PULMONARY AND SYSTEMIC
CIRCULATION
Persistent Cyanosis Single vessel empties both ventricles 0.01/1000 live births (RARE)
Truncus because of bad partitioning of the Several variations
Arteriosus (TA) truncus arteriosis and aortic sac. VSD Associated with DiGeorge Syndrome
also present
Hypoplastic Cyanosis Atresia/stenosis of the aortic Usually an isolated defect
Left Heart valve/mitral valve  left ventricle/left Shunt between L/R heart needed for survival
Syndrome atrium hypoplasia 0.2/1000 live births
(HLH)
Results because the left heart was not ***Heart chambers must be filled during development in
filled during development probably due order to develop normally
to mitral stenosis/atresia or a foramen
ovale that closed too soon
Coarctation of Obstruction- left Narrowing of the aorta occurs near the Differential pulses in the extremities (pulse in upper limb
the aorta (CA) side of the heart opening of the ductus arteriosus, no is strong, pulse in lower limb is weak)
shunting of blood occurs, associated Females: associated with Turner syndrome
commonly with a bifid aortic valve 0.4/1000 live births, more common in males
Aortic Obstruction- left Aortic valve opening/outlet portion of Yes Associated with several syndromes
stenosis/atresia side of the heart left ventricle is narrow  left ventricle 0.03/1000 live births, 4 times more common in males
(AS/AA) works harder  left ventricular failure
Absence of the aortic valve (atresia) =
rare
Pulmonary Obstruction- Narrowing of pulmonary valve/outflow Yes Cyanosis occurs if a R  L shunt is present
stenosis/atresia right side of the region of the right ventricle  right 0.06/1000 live births
(PS/PA) heart ventricle works harder  right
ventricular hypertrophy
Absence of the pulmonary valve
(atresia) = rare
Acardia Absence of a Head region is affected/absent
heart Distinctive to monozygotic twinning conditions
1/35000 live births, 1/100 monozygotic twin births
Cardiac Heart loops to the left resulting in a May occur with situs inversus
malrotation right sided heart 1/10,000 live births
(Dextrocardia)
Ectopic cardia Heart is located on the outer surface of Long-term survival is rare
(RARE) the thoracic cavity
Associated with defective development
of the thoracoabdominal wall