3.1 Congenital abnormalities Flashcards

1
Q

why are some defects acyanotic [change Q]?

A

oxygenated blood pumped in systemic circulation

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2
Q

why are some defects cyanotic [change Q]?

A

deoxygenated blood pumped in systemic circulation

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3
Q

name some acyanotic defects

A
  • ASD (atrial septal defect)
  • VSD (ventricular septal defect)
  • PFO (patent foramen ovale)
  • PDA (patent ductus arteriosus)
  • coarctation of aorta
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4
Q
A
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5
Q

name some cyanotic defects

A
  • tetralogy of fallot
  • tricuspid atresia
  • transposition of great arteries
  • hypoplastic left heart
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6
Q

What is atrial septal defect ?

A

opening in the septum between the atria which persists postnatally

Left atrial pressure is higher than right so oxygenated blood is pumped systemically

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7
Q

complications of atrial septal defect ?

A
  • delayed pulmonary valve closure (relative to aortic valve)
  • increased pulmonary vascular resistance (shunt reversal [eisenmerger syndrome], right ventricular hypertrophy)
  • DVT -> paradoxical embolism
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8
Q

Why does atrial septal defect have a splitting of S2 sound and systolic murmur ?

A

Pulmonary valve closes later than aortic valve

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9
Q

Clinical features (symptoms) of atrial septal defect early life & adult life ?

A

early life: asymptomatic
adult life: (due to supraventricular arrhythmias)
* dsypnoea
* fatigue
* recurrent RTIs
* palpitations

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10
Q

Clinical features (signs) of atrial septal defect adult life ?

A

In eisenmenger syndrome:
* murmurs
* central cyanosis
* finger clubbing

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11
Q

What’s the most common congenital heart defect ?

A

ventricular septal defect

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12
Q

associations that are linked to ventricular septal defect (VSD) ?

A
  • fetal alcohol syndrome
  • chromosomal abnormalities (down , edwards, patau syndrome)
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13
Q

What are the different anatomical variations of VSDs ?

A
  • perimembranous
  • subarterial infundibular
  • muscular
  • atrioventricular canal
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14
Q

What is ventricular septal defect ?

A
  • opening in the septum between the ventricles which persists postnatally
  • left ventricular pressure is higher than right so oxygenated blood is pumped systemically
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15
Q

which murmur and where is it seen in ventricular septal defect ?

A

pan-systolic murmur at lower left sternal border

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16
Q

complications of ventricular septal defect?

A
  • increased pulmonary vascular resistance (shunt reversal [eisenmenger syndrome], right ventricular hypertrophy)
  • aortic regurgitation
  • infective endocarditis
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17
Q

clinical features of small VSDs ?

A

asymptomatic (85% of these close spontaneously during first year of life)

18
Q

clinical features of moderate VSDs ?

A
  • tachypnoea
  • fatigue when feeding
  • excess sweating
  • poor weight gain
19
Q

clinical features of large VSDs ? symptoms + signs

A

symptoms:
* tachypnoea
* fatigue when feeding
* excess sweating
* poor weight gain

signs:
* murmur
* central cyanosis
* exertional syncope

20
Q

associations related to coarctation of aorta ?

A
  • bicuspid aortic valve
  • ventricular septal defect
  • turner syndrome
  • berry aneurysms -> leading to subarachnoid haemorrhage
21
Q

3 types of coarctation of aorta ?

A
  • ductal coarctation
  • preductal coarctation
  • postductal coarctation
22
Q

complications of coarctation of aorta ?

A
  • hypertension
  • re-coarctation after repair
  • R&L Ventricular hypertrophy -> congestive heart failure
23
Q

coarctation of aorta symptoms ?

A
  • asymptomatic
  • tachypnoea
  • fatigue when feeding
  • dizziness
  • chest pain
  • intermittent leg claudication
24
Q

coarctation of aorta signs ?

A
  • blood pressure differences between U+L limb
  • hypertension
  • reduced and delayed pulses in L limbs
  • radio-radial delay
  • failure to thrive
  • murmur ejection systolic
  • differential cyanosis between U+L limbs
25
Q

PDA occurs in …1… in congenital heart defects

A

5-10%

26
Q

risk factors of PDA ?

A
  • genetic syndromes (trisomy 21)
  • during pregnancy: rubella infection , valproate use
  • birth at high altitude
27
Q

PDA complications ?

A
  • respiratory distress syndrome
  • pulmonary hypertension
  • R ventricular hypertrophy -> congestive heart failure
28
Q

Clinical features of PDA ?

A

Small PDAs
* asymptomatic (most will close spontaneously)

Moderate / Large PDAs
* tachypnoea
* fatigue when feeding
* excess sweating
* poor weight gain
* sign = murmur

29
Q

4 factors related to Tetralogy of fallot ?

A

PROVe
* pulmonary stenosis - narrowed pulmonary valve
* R ventricular hypertrophy
* overriding aorta - positioned over VSD, receives blood from both ventricles
* VSD - causing R to L shunt

30
Q

what is associated with tetralogy of fallot ?

A
  • genetic syndromes - trisomies 13,18,21, DiGeorge syndrome
  • fetal alcohol syndrome
31
Q

Risk factors with tetralogy of fallot ?

A
  • alcoholism in mother
  • phenylketonuria in mother
  • diabetes
  • pregnancy over age 40
32
Q

complications with tetralogy of fallot ?

A
  • progressive pulmonary regurgitation -> R ventricular failure -> congestive cardiac failure
  • aortic root dilatation
  • sustained ventricular tachycardia
  • paradoxical embolus
33
Q

Clinical features of tetralogy of fallot ?

A

symptoms ?
* asymptomatic
* dyspnoea
* fatigue when feeding
* squatting to rest on exercise

signs ?
* cyanosis
* hypoxic spells
* low birthweight
* murmur - ejection systolic
* finger clubbing (cyanosis for a long time)

34
Q

what is tricuspid atresia ?

A
35
Q

clinical features of tricuspid atresia ?

A
  • dyspnoea
  • fatigue when feeding
  • progressive cyanosis
  • murmur = pan-systolic due to VSD
36
Q

Transposition of great arteries results in what ?

A

2 parallel circuits rather than one circulation in series

It’s not compatible with life unless a shunt is maintained after birth through a PDA, ASD, or VSD

37
Q

what is associated with transposition of great arteries ?

A
  • ASD
  • VSD
  • PDA
  • left ventricular outflow obstruction
38
Q

complications of transposition of great arteries ?

A
  • respiratory distress - metabolic acidosis due to tissue hypoperfusion
  • congestive cardiac failure
39
Q

clinical features of transposition of great arteries ?

A
  • asymptomatic
  • tachypnoea
  • fatigue when feeding
  • cyanosis
  • tachycardia
  • poor weight gain
  • murmur if VSD or pulmonary stenosis
40
Q

what is hypoplastic left heart ? [change Q + A]

A

underdeveloped left ventricle ??

41
Q

Clinical features with hypoplastic left heart ?

A
  • asymptomatic until PDA closes
  • dyspnoea
  • cyanosis
  • murmur if VSD or pulmonary stenosis