MSFinals-0222
A 20-year-old man, who recently immigrated to the United Kingdom from Eastern Europe, presents to his general practitioner with a history of intermittent dizzy spells. He reports having limited exercise capacity since childhood, but this has not been investigated before. Upon examination, the patient appears slight, has a dusky blue discoloration to his lips and tongue, and has finger clubbing. A murmur is also heard. The GP refers him to a cardiologist.
The results of a cardiac catheter study are as follows:
Anatomical site Oxygen saturation (%) Pressure (mmHg)
End systolic/End diastolic
Superior vena cava 58 –
Inferior vena cava 52 –
Right atrium (mean) 56 10
Right ventricle 55 105/9
Pulmonary artery – 16/8
Pulmonary capillary wedge pressure – 9
Left atrium 97 –
Left ventricle 84 108/10
Aorta 74 110/80
What is the most likely diagnosis?