Congenital Heart Disease

Question 1

Abnormalities of the heart or great vessels are the most common birth defects. Most commonly due to?

Answer 1

Sporadic mutations

Environmental toxins – alcohol

Question 2

What is the most common congenital heart disease?

Answer 2

Ventricular Septal Defects (VSD)

Question 3

Symptoms of Left-to-Right Shunts?

Answer 3

Initially ASYMPTOMATIC

Question 4

What are 3 Left-to-Right Shunts?

Answer 4

Atrial Septal Defects
Ventricular Septal Defects
Patent Ductus Arteriosus

Question 5

Symptoms of Right-to-Left Shunts?

Answer 5

Symptomatic and CYANOTIC with finger clubbing

Question 6

What are 3 Right-to-Left Shunts?

Answer 6

Tetralogy of Fallot
Transposition of Great Arteries
Tricuspid Atresia

Question 7

What is the most common Atrial Septal Defect and what are the symptoms?

Answer 7

• Left to Right Shunt
  – Ostium Secundum ASD is the most common
  = ASYMPTOMATIC until adulthood
  –> Systolic ejection murmur

Question 8

What is the most common type of Ventricular Septal Defects and what are the symptoms?

Answer 8

• Left to Right Shunt
  – Membranous VSDs most common
  = ASYMPTOMATIC until adulthood
  –> Holosystolic murmur

Question 9

Patent Ductus Arteriosus and direction of blood flow?

Answer 9

• Left to Right Shunt

- - Connects Aorta to Pulmonary A. and blood travels from Aorta to Pulmonary A.

Question 10

Symptoms of Patent Ductus Arteriosus?

Answer 10

• Left to Right Shunt

= ASYMPTOMATIC with harsh, machinery-like murmur

Question 11

Left to Right Shunts increase blood flow/pressure in the?

Answer 11

Lungs – pulmonary hypertension

Question 12

Describe Eisenmenger Syndrome

left to right shunt reversal

Answer 12

• Left to Right Shunt
• Increased pulmonary blood flow
• IRREVERSIBLE arterial hypertrophy with occlusion
• Increased pulmonary vascular resistance
• Shunt switches to a Right to Left Shunt

Question 13

Describe Eisenmenger Syndrome

Left to Right Shunt Reversal

Answer 13

• Left to Right Shunt
• Increased pulmonary blood flow
• IRREVERSIBLE arterial hypertrophy with occlusion
• Increased pulmonary vascular resistance
• Shunt switches to a Right to Left Shunt

Question 14

What are the 4 features of Tetralogy of Fallot and what type of shunt is it?

Answer 14

• Right to Left Shunt
  1. Overriding Aorta
  2. Subpulmonic Stenosis
  3. RV hypertrophy
  4. VSD - holosystolic murmur

Question 15

What are the 4 features of Tetralogy of Fallot?

Answer 15

1. Overriding Aorta
2. Subpulmonic Stenosis
3. RV Hypertrophy
4. VSD - holosystolic murmur

Question 16

With Tetralogy of Fallot, describe the physical exam findings

Answer 16

• Cyanotic at birth
• TET spells
• Compensatory squatting in young children

Question 17

With Tetralogy of Fallot, describe the physical exam findings

Answer 17

• Cyanotic at birth
• TET spells
• Compensatory squatting in young children

Question 18

What is a TET spell and what is it seen with?

Answer 18

• Seen with Tetralogy of Fallot

= With emotional distress or increased activity –> Cyanosis and Syncope

Question 19

What will the heart look like with Tetralogy of Fallot?

Answer 19

Boot shaped heart

Question 20

Transposition of Great Arteries

Answer 20

• Right to Left Shunt
  Aorta and Pulmonary A. are switched
• incompatible with life unless a shunt is present
  = Cyanosis at birth

Question 21

Triscupid Atresia

Answer 21

• Right to Left Shunt
  Absence of Tricuspid valve
  = Severe, immediate cyanosis at birth

Question 22

What will likely be present with Tricuspid Atresia to maintain oxygenation?

Answer 22

ASD/PFO AND a VSD

Question 23

What are the symptoms of Left to Right Shunts and what are 3 of them?

Answer 23

= Asymptomatic initially

1. ASD
2. VSD
3. Patent Ductus Arteriosus

Question 24

What are the symptoms of Right to Left Shunts and what are 3 of them?

Answer 24

= CYANOTIC

1. Tetralogy of Fallot
2. Transposition of Great Arteries
3. Tricuspid Atresia

Question 25

What are 2 congenital obstructive cardiac conditions?

Answer 25

1. Coarctation of Aorta | 2. Aortic Stenosis

Question 26

What are 2 congenital obstructive cardiac conditions?

Answer 26

1. Coarctation of Aorta | 2. Aortic Stenosis

Question 27

Coarctation of the Aorta is narrowing of the aorta. What is usually present with the infantile form but NOT the adult form?

Answer 27

Patent Ductus Arteriosus

Question 28

Symptoms of infantile form of coarctation of the aorta?

Answer 28

Cyanosis of the lower 1/2 of the body and weak pulses

Question 29

Cyanosis of the lower 1/2 of the body with weak pulses?

Answer 29

Coarctation of the aorta - infantile form

Question 30

Symptoms of the adult form of coarctation of the aorta?

Answer 30

Upper body = Hypertension | Lower body = Hypotension and weak pulses

Question 31

Upper body hypertension and lower body hypotension is?

Answer 31

Adult form of coarctation of the aorta

Question 32

What will be seen with the adult form of coarctation of the aorta?

Answer 32

Rib notching

Question 33

Aortic Stenosis causes what in the LV?

Answer 33

Hypertrophy of the left ventricle

Question 34

Patent Foramen Ovale

Answer 34

Connection between the right and left atriums

Question 35

Describe how a Patent Foramen Ovale may open

Answer 35

- Right sided pressure increases - Person coughs/sneezes/bowel movement or valsalva - Flap opens = Becomes a right to left shunt

Question 36

What can potentially occur with an open patent foramen ovale that becomes a right to left shunt?

Answer 36

Paradoxical embolism

Question 37

Paradoxical embolism

Answer 37

- Emboli gets to the left side of the heart (through right to left shunt usually (PFO)) = Stroke or other end organ effects

Question 38

Paradoxical embolism

Answer 38

- Emboli gets to the left side of the heart (usually from a heart defect such as a PFO (right to left shunt) = Stroke or other end organ effects

Question 39

Paradoxical embolisms may occur with what type of shunts?

Answer 39

Right to Left

Question 40

List what Left to Right shunts are associated with the following murmurs: - Systolic ejection murmur - Holosystolic murmur - Harsh, machinery-like murmur

Answer 40

- ASD - VSD - Patent Ductus Arteriosus

Question 41

Down Syndrome signs?

Answer 41

Epicanthal folds with upslanted eyes Single palmar crease Widely spaces 1st and 2nd toes

Question 42

Heart defects associated with Down Syndrome?

Answer 42

SEPTAL defects | - Atrioventricular > Ventricular > Atrial

Question 43

Heart defects associated with Trisomy 21?

Answer 43

SEPTAL defects | - Atrioventricular > Ventricular > Atrial

Question 44

Marfan Syndrome mutations?

Answer 44

- Fibrillin - 1 mutation - Causes excessive TGF-beta - Causes excessive metalloprotease activity = Degrades elastin

Question 45

Marfan Syndrome mutations?

Answer 45

- Fibrillin - 1 mutations - Causes excessive TGF-beta - Causes excessive Metalloprotease activity = Degrades elastin

Question 46

Heart issues associated with Marfan Syndrome?

Answer 46

Aortic dissection and aneurysm

Question 47

Heart defects associated with DiGeorge Syndrome?

Answer 47

Conotruncal heart abnormalities like tetralogy of fallot

Question 48

Heart defect associated with Turner Syndrome (45XO)?

Answer 48

Coarctation of aorta

Question 49

Heart defect associated with Turner Syndrome (45XO)

Answer 49

Coarctation of aorta