The core of the problem

Dyspnoea and weakness point to a congenital condition that rarely presents in adulthood.

Lee — a 39-year-old male with a history of eczema, asthma and mild scoliosis — presents to his GP with a few weeks of worsening dyspnoea on exertion and orthopnoea. He also reports excessive daytime sleepiness, generalised weakness and lethargy, and recent weight gain.

On examination, Lee has gained 5kg in three months, giving him a BMI of 26kg/m2. Vital signs are within acceptable limits, as well as cardiorespiratory, thyroid and neurological examination.