Path 3: CHD

Abnormalities of the heart or great vessels present from birth.

Most CHDs arise from faulty embryogenesis during gestational weeks  ____ through _____

Incidence of CHDs

Mutations in transcription factors linked to ____ & ____

Categories of CHD (3)

Abnormal communication between chambers or blood vessels.

Right --> Left Shunts (5)

R--> L Shunts characterized by ___

R-> L Shunts:
Bland or septic emboli arising in peripheral veins that enter the systemic circulation and may cause brain infarcts or abscesses.

Long-standing cyanosis (R-> L shunts) can cause (2 things)

L -> R Shunts (4)

L -> R shunts result in _____

L-> R shunts:  The muscular pulmonary arteries first respond to the increased pressure by _________ and _______.

L -> R Shunt:
Eventually the shunt reverses and poorly-oxygenated blood goes into the systemic circulation.  This is known as?

Major anomalies causing obstruction (3)

Complete obstruction

What is the most common ASD?

Ostium Secondum ASD is due to a fenestrated or deficient _______

Which ASD is associated with fetal alcohol syndrome?

Where do Ostium Primum ASDs appear?

Where do Sinus Venosus ASDs appear?

Name the 3 ASDs.

When do ASDs usually start showing symptoms?

Are ASDs the same thing as a patent foramen ovale?

Most common congenital cardiac anomaly.

90% of VSDs are located at the _______ of the interventricular septum.  The remaining are_____

Which type of VSD can be multiple?

What percentage of small muscular VSDs close spontaneously?

What gives a "machinery-like" murmur?

Superior and inferior endocardial cushions fail to fuse adequately.  Incomplete close of AV septum and inadequate formation of tricuspid and mitral valves.

AVSD:  Superior and inferior _____fail to fuse adquately.
Incomplete closure of ______ and inadequate closure of ________

4 Features of Tetralogy of Fallot

Results from anterosuperior displacement of the infundibular septum.

Tetralogy of Fallot results from ________ displacement of the ________

Boot-shaped heart due to right ventricular hypertrophy

What determines the direction of blood flow in Tetralogy of Fallot?

Due to abnormal formation of hte truncal and aortopulmonary septa.

TGA is due to abnormal formation of the ____________

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 may result in ?

Occlusion of the tricuspid valve orifice

Tricuspid Atresia is almost always associated with

Hypoplastic right ventricle is almost always associated with

No pulmonary veins directly join the left atrium.

TAPVC usually drains into the ________ or ______

What is always present in a TAPVC  that allows pulmonary venous blood to enter the left atrium?

Hypertrophy of right atrium and ventricle with dilationof these chambers and pulmonary trunk is characteristic of?

In TAPVC, the LA = ______ and the LV=______

What disease presents with a hypoplastic LA?

Narrowing or constriction of the aorta.

Who is more affected by coarctation of the aorta, males or females?

Turner Syndrome is associated with

Name 2 types of coarctation of the aorta.

In Infantile Coarctation of the aorta, the hypoplasia of the aortic arch location is?

Adult Coarctation of the Aorta presents as?

Bicuspid Aortic Valve is associated with?

Right ventricular hypoplasia w/ an associated ASD/VSD is associated with?

What is assocaited with fibroelastosis of the left ventricular endocardium (hypoplastic left heart syndrome)?

Thickened ring or collar of dense endocardial fibrous tissue below the level of the cusps.

Supraventricular Stenosis (Aortic Stenosis) is caused by mutation in what gene?

Inherited form of aortic dysplasia in which the ascending aortic wall is greatly thickened, causing luminal constriction.