Abnormalities of the heart or great vessels present from birth.
Congenital Heart Disease
Most CHDs arise from faulty embryogenesis during gestational weeks ____ through _____
3 through 8
Incidence of CHDs
1% of live births
Mutations in transcription factors linked to ____ & ____
ASD (TBX5)
VSD (NKX2.5)
Categories of CHD (3)
L -> R Shunt
R -> L Shunt
Obstruction
Abnormal communication between chambers or blood vessels.
Shunt
Right --> Left Shunts (5)
Tetralogy of Fallot
Transposition of the Great Arteries
Persistent Truncus Arteriosus
Tricuspid Atresia
Total anomalous pulmonary venous connection
R--> L Shunts characterized by ___
Cyanosis
R-> L Shunts:
Bland or septic emboli arising in peripheral veins that enter the systemic circulation and may cause brain infarcts or abscesses.
Paradoxical emboli
Long-standing cyanosis (R-> L shunts) can cause (2 things)
Clubbing of the tips of fingers and toes
Polycythemia
L -> R Shunts (4)
ASD
VSD
PDA
AV Septal defects
L -> R shunts result in _____
Right ventricular hypertrophy
L-> R shunts: The muscular pulmonary arteries first respond to the increased pressure by _________ and _______.
Medial hypertrophy, vasoconstriction
L -> R Shunt:
Eventually the shunt reverses and poorly-oxygenated blood goes into the systemic circulation. This is known as?
Eisenmenger Syndrome or Late Cyanotic Congenital Heart Disease
Major anomalies causing obstruction (3)
Coarctation of the aorta
Aortic valvular stenosis
Pulmonary Valvular stenosis
Complete obstruction
Atresia
What is the most common ASD?
Ostium Secundum
Ostium Secondum ASD is due to a fenestrated or deficient _______
fossa ovalis
Which ASD is associated with fetal alcohol syndrome?
Ostium Primum
Where do Ostium Primum ASDs appear?
Adjacent to the AV valves
Where do Sinus Venosus ASDs appear?
Near entrance of Superior Vena Cava
Name the 3 ASDs.
Secundum
Primum
Sinus Venosus
When do ASDs usually start showing symptoms?
Usually asymptomatic until adulthood
Are ASDs the same thing as a patent foramen ovale?
NO!!!
Most common congenital cardiac anomaly.
VSD
90% of VSDs are located at the _______ of the interventricular septum. The remaining are_____
membranous portion
infundibular (below pulmonic valve) or muscular
Which type of VSD can be multiple?
Muscular (swiss cheese septum)
"The swiss have lots of muscles."
What percentage of small muscular VSDs close spontaneously?
50%
What gives a "machinery-like" murmur?
Patent Ductus Arteriosus
Superior and inferior endocardial cushions fail to fuse adequately. Incomplete close of AV septum and inadequate formation of tricuspid and mitral valves.
Atrioventricular Septal Defect
AVSD: Superior and inferior _____fail to fuse adquately.
Incomplete closure of ______ and inadequate closure of ________
endocardial cushions
tricuspid and mitral valves
4 Features of Tetralogy of Fallot
VSD
Obstruction to the right ventricular outflow tract (subpulmonary stenosis)
An aorta that overrides the VSD
Right ventricular hypertrophy
Results from anterosuperior displacement of the infundibular septum.
Tetralogy of Fallot
Tetralogy of Fallot results from ________ displacement of the ________
anterosuperior
infundibular septum
Boot-shaped heart due to right ventricular hypertrophy
Tetralogy of Fallot
What determines the direction of blood flow in Tetralogy of Fallot?
Severity of right ventricular outflow obstruction
Due to abnormal formation of hte truncal and aortopulmonary septa.
Transposition of the Great Arteries
TGA is due to abnormal formation of the ____________
truncal and aortopulmonary septa
Development failure of separation of the embryologic truncus arteriosus into the aorta and pulmonary artery. Results in single great artery that receives blood from both ventricles.
Truncus Arteriosus
Truncus Arteriosus may result in ?
Pulmonary hypertension (among other things)
Occlusion of the tricuspid valve orifice
Tricuspid Atresia
Tricuspid Atresia is almost always associated with
Hypoplastic right ventricle
Hypoplastic right ventricle is almost always associated with
Tricuspid Atresia
No pulmonary veins directly join the left atrium.
Total Anomalous Pulmonary Venous Connection (TAPVC)
TAPVC usually drains into the ________ or ______
Left innominate vein or coronary sinus
What is always present in a TAPVC that allows pulmonary venous blood to enter the left atrium?
Patent Foramen Ovale or ASD
Hypertrophy of right atrium and ventricle with dilationof these chambers and pulmonary trunk is characteristic of?
TAPVC
In TAPVC, the LA = ______ and the LV=______
LA= hypoplastic
LV= normal
What disease presents with a hypoplastic LA?
TAPVC
Narrowing or constriction of the aorta.
Coarctation of the Aorta
Who is more affected by coarctation of the aorta, males or females?
Males
Turner Syndrome is associated with
Coarctation of the Aorta
Name 2 types of coarctation of the aorta.
Infantile: Hypoplasia of aortic arch proximal to PDA
Adult: Ridge-like infolding of the aorta, opposite to a closed ductus arteriosus distal to the arch vessels
In Infantile Coarctation of the aorta, the hypoplasia of the aortic arch location is?
After the 3 main branches, but before the PDA. Leads to LE cyanosis in infants.
Adult Coarctation of the Aorta presents as?
Hypertensionof the UE and hypotension w/ weak pulses in the LE. Collateral circulation develops across the intercostal arteries --> notching of ribs on X-ray
Bicuspid Aortic Valve is associated with?
Coarctation of the Aorta
Right ventricular hypoplasia w/ an associated ASD/VSD is associated with?
Pulmonary Atresia
What is assocaited with fibroelastosis of the left ventricular endocardium (hypoplastic left heart syndrome)?
Aortic Stenosis and Atresia
Thickened ring or collar of dense endocardial fibrous tissue below the level of the cusps.
Subaortic stenosis
Supraventricular Stenosis (Aortic Stenosis) is caused by mutation in what gene?
Elastin gene
Inherited form of aortic dysplasia in which the ascending aortic wall is greatly thickened, causing luminal constriction.