Congenital Malformations in children Flashcards
What is the most common congenital malformation in children?
Congenital heart disease
What is DiGeorge’s syndrome? What is this condition associated with?
DiGeorge’s syndrome is a genetic abnormality in chromosome 22q11,
It is associated with aortic arch defects and hypocalcaemia.
Which is the most common congenital heart defect?
Ventricular septal defect
What is the sign of Ventricular septal defect?
Either asymptomatic or a harsh pansystolic murmur heard in the left lower sternal edge.
Which congenital heart defects present with heart failure?
Ventricular septal defect
Atrioventricular septal defect
Patent ductus arteriosus
Patent ductus arteriosus is more common in who?
Patent ductus arteriosus is more common in premature infants
What is the presenting sign of patent ductus arteriosus?
Continuous machinery murmur below the left clavicle and a collapsing pulse.
Which Congenital heart defect is associated with Down’s syndrome?
Atrioventricular septal defect
What is the mnemonic for Tetralogy of Fallot?
PROVe
P - Pulmonary stenosis (Pulmonary valve is smaller, and more obstructed)
R - Right ventricular hypertrophy (due to obstructed pulmonary valve)
O - Over-riding aorta (Aortic valve is larger)
V - Ventricular septal defect
What is the presentation of children with Tetralogy of Fallot?
Intermittent cyanosis from birth, Ejection systolic murmur (due to pulmonary stenosis). Right ventricular hypertrophy on ECG
What is the presentation of coarctation of aorta?
Weak or absent femoral pulse
What is Eisenmenger Syndrome a complication of?
Eisenmenger syndrome is a complication of untreated acyanotic heart defects, such as Ventricular Septal defects, Atrial septal defects and Patent Ductus Arteriosus.
