Congenital Abnormalities

Question 1

Pulmonary Atresia

Answer 1

blockage of pulmonary valve
cyanosis soon after birth
cyanosis and murmur if there’s a VSD

Question 2

Ebstein’s anomaly

Answer 2

downwardly displaced tricuspid valve
superior ventricular dilation
no systolic murmur
clubbing
cyanosis

Question 3

tetralogy of fallot

Answer 3

pulmonary stenosis
right ventricular hypertrophy
ventricular septal defect
overriding aorta

its year cyanosis and murmur
slightly more common in males

Question 4

transposition of great vessels

Answer 4

cyanosis soon after birth

Question 5

coarctation of the aorta

Answer 5

narrowing of the aorta at the exit of the heart
systolic murmur
no cyanosis
relies on the ductus arteriosus, when this closes it causes circulatory collapse - tachycardia and hypotension

Question 6

Duchenne’s Muscular Dystrophy: causes

Answer 6

X-linked recessive
Xp21
most boys don’t survive to pass it on, so passed on by female carriers
lack of dystrophin - excessive calcium entry into cell

Question 7

Duchenne’s Muscular Dystrophy: clinical features

Answer 7

progressive proximal muscle weakness and wasting
positive gower’s sign
abnormal gait
boys about 5 years old

Question 8

Duchenne’s Muscular Dystrophy: management

Answer 8

corticosteroids
physiotherapy
mechanicl ventialtion in late stages

Question 9

murmur associated with patent ductus arteriosus

Answer 9

continuous machinery murmur

Question 10

murmur associated with ventricular septal defect

Answer 10

pansystolic murmur at the left sternal edge