Cardiology>>>>>Adult Congenital Heart Disease and Pregnancy
Question 14#

You are following up a 33-year-old male in clinic who was referred by the GP for increasing breathlessness and intermittent palpitations. A transthoracic echocardiogram was performed which revealed moderate right heart dilatation but no abnormality of the right-sided valves. Right ventricular systolic pressure was estimated at 30 mmHg. He has no respiratory problems and is a lifelong non-smoker. He is slim with good echocardiogram images, and careful interrogation of the intra-atrial and ventricular septum shows no evidence of a colour flow. 

What is a likely differential diagnosis?

A. ASD
B. VSD
C. PFO
D. Primary respiratory disease with right heart changes
E. PDA

Correct Answer is A

Comment:

Secundum and primum (AVSD) defects can be clearly seen on transthoracic echo. However, sinus venosus defects may not be seen. This patient has signs and a suspicion of an ASD physiology type left-to-right shunt. This includes anomalous pulmonary venous drainage, which is associated with superior sinus venosus ASD. He should have further imaging in the form of TOE or CT/CMR to identify the pulmonary venous drainage and look for a less obvious ASD. PFOs cause no haemodynamic anatomical change. Haemodynamically significant VSDs result in left ventricular volume loading and increased pulmonary flow with eventual pulmonary hypertension, as do PDAs (not right-sided volume loading).