Congenital Heart Disease Flashcards
Abnormalities of the heart or great vessels are the most common birth defects. Most commonly due to?
Sporadic mutations
Environmental toxins – alcohol
What is the most common congenital heart disease?
Ventricular Septal Defects (VSD)
Symptoms of Left-to-Right Shunts?
Initially ASYMPTOMATIC
What are 3 Left-to-Right Shunts?
Atrial Septal Defects
Ventricular Septal Defects
Patent Ductus Arteriosus
Symptoms of Right-to-Left Shunts?
Symptomatic and CYANOTIC with finger clubbing
What are 3 Right-to-Left Shunts?
Tetralogy of Fallot
Transposition of Great Arteries
Tricuspid Atresia
What is the most common Atrial Septal Defect and what are the symptoms?
- Left to Right Shunt
– Ostium Secundum ASD is the most common
= ASYMPTOMATIC until adulthood
–> Systolic ejection murmur
What is the most common type of Ventricular Septal Defects and what are the symptoms?
- Left to Right Shunt
– Membranous VSDs most common
= ASYMPTOMATIC until adulthood
–> Holosystolic murmur
Patent Ductus Arteriosus and direction of blood flow?
- Left to Right Shunt
- - Connects Aorta to Pulmonary A. and blood travels from Aorta to Pulmonary A.
Symptoms of Patent Ductus Arteriosus?
- Left to Right Shunt
= ASYMPTOMATIC with harsh, machinery-like murmur
Left to Right Shunts increase blood flow/pressure in the?
Lungs – pulmonary hypertension
Describe Eisenmenger Syndrome
left to right shunt reversal
- 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
Describe Eisenmenger Syndrome
Left to Right Shunt Reversal
- 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
What are the 4 features of Tetralogy of Fallot and what type of shunt is it?
- Right to Left Shunt
1. Overriding Aorta
2. Subpulmonic Stenosis
3. RV hypertrophy
4. VSD - holosystolic murmur
What are the 4 features of Tetralogy of Fallot?
- Overriding Aorta
- Subpulmonic Stenosis
- RV Hypertrophy
- VSD - holosystolic murmur
With Tetralogy of Fallot, describe the physical exam findings
- Cyanotic at birth
- TET spells
- Compensatory squatting in young children
With Tetralogy of Fallot, describe the physical exam findings
- Cyanotic at birth
- TET spells
- Compensatory squatting in young children
What is a TET spell and what is it seen with?
- Seen with Tetralogy of Fallot
= With emotional distress or increased activity –> Cyanosis and Syncope
What will the heart look like with Tetralogy of Fallot?
Boot shaped heart
Transposition of Great Arteries
- Right to Left Shunt
Aorta and Pulmonary A. are switched - incompatible with life unless a shunt is present
= Cyanosis at birth
Triscupid Atresia
- Right to Left Shunt
Absence of Tricuspid valve
= Severe, immediate cyanosis at birth
What will likely be present with Tricuspid Atresia to maintain oxygenation?
ASD/PFO AND a VSD
What are the symptoms of Left to Right Shunts and what are 3 of them?
= Asymptomatic initially
- ASD
- VSD
- Patent Ductus Arteriosus
What are the symptoms of Right to Left Shunts and what are 3 of them?
= CYANOTIC
- Tetralogy of Fallot
- Transposition of Great Arteries
- Tricuspid Atresia
What are 2 congenital obstructive cardiac conditions?
- Coarctation of Aorta
2. Aortic Stenosis
What are 2 congenital obstructive cardiac conditions?
- Coarctation of Aorta
2. Aortic Stenosis
Coarctation of the Aorta is narrowing of the aorta. What is usually present with the infantile form but NOT the adult form?
Patent Ductus Arteriosus
Symptoms of infantile form of coarctation of the aorta?
Cyanosis of the lower 1/2 of the body and weak pulses
Cyanosis of the lower 1/2 of the body with weak pulses?
Coarctation of the aorta - infantile form
Symptoms of the adult form of coarctation of the aorta?
Upper body = Hypertension
Lower body = Hypotension and weak pulses
Upper body hypertension and lower body hypotension is?
Adult form of coarctation of the aorta
What will be seen with the adult form of coarctation of the aorta?
Rib notching
Aortic Stenosis causes what in the LV?
Hypertrophy of the left ventricle
Patent Foramen Ovale
Connection between the right and left atriums
Describe how a Patent Foramen Ovale may open
- Right sided pressure increases
- Person coughs/sneezes/bowel movement or valsalva
- Flap opens
= Becomes a right to left shunt
What can potentially occur with an open patent foramen ovale that becomes a right to left shunt?
Paradoxical embolism
Paradoxical embolism
- Emboli gets to the left side of the heart (through right to left shunt usually (PFO))
= Stroke or other end organ effects
Paradoxical embolism
- 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
Paradoxical embolisms may occur with what type of shunts?
Right to Left
List what Left to Right shunts are associated with the following murmurs:
- Systolic ejection murmur
- Holosystolic murmur
- Harsh, machinery-like murmur
- ASD
- VSD
- Patent Ductus Arteriosus
Down Syndrome signs?
Epicanthal folds with upslanted eyes
Single palmar crease
Widely spaces 1st and 2nd toes
Heart defects associated with Down Syndrome?
SEPTAL defects
- Atrioventricular > Ventricular > Atrial
Heart defects associated with Trisomy 21?
SEPTAL defects
- Atrioventricular > Ventricular > Atrial
Marfan Syndrome mutations?
- Fibrillin - 1 mutation
- Causes excessive TGF-beta
- Causes excessive metalloprotease activity
= Degrades elastin
Marfan Syndrome mutations?
- Fibrillin - 1 mutations
- Causes excessive TGF-beta
- Causes excessive Metalloprotease activity
= Degrades elastin
Heart issues associated with Marfan Syndrome?
Aortic dissection and aneurysm
Heart defects associated with DiGeorge Syndrome?
Conotruncal heart abnormalities like tetralogy of fallot
Heart defect associated with Turner Syndrome (45XO)?
Coarctation of aorta
Heart defect associated with Turner Syndrome (45XO)
Coarctation of aorta
