Atrioventricular septal defect

Question 1

Definition

Answer 1

An AV septal defect is a hole in the centre of the heart involving the atrial septum, ventricular septum & tricuspid & mitral valves. Instead of 2 AV valves there is 1 large malformed AV valve which is usually leaky.

Question 2

Associations

Answer 2

Massively associated with Down’s syndrome

Question 3

Clinical manifestations (complete defects vs partial defect)

Answer 3

COMPLETE DEFECT - typically presents in neonates

• torrential pulmonary flow leads to Eisenmenger’s syndrome over time (cyanosis, clubbing, dyspnoea, plethoric complexion due to compensatory polycythaemia)
• dyspnoea, tachypnoea, poor weight gain & feeding, failure to thrive (think skinny breathless baby)
  
  • dyspnoea

PARTIAL DEFECT- can present in late adulthood

• dyspnoea, exercise intolerance