Endgames Picture Quiz

An unfortunate teenager

BMJ 2011; 343 doi: https://doi.org/10.1136/bmj.d6170 (Published 29 September 2011) Cite this as: BMJ 2011;343:d6170
  1. Zishan Sheikh, core medicine year 31,
  2. Shahnawaz Khan, core surgery year 22,
  3. Afroze Khan, core surgery year 2 3
  1. 1Respiratory Medicine, Wexham Park Hospital, Slough SL2 4HL, UK
  2. 2Plastic Surgery, Queen Victoria Hospital, East Grinstead RH19 3DZ, UK
  3. 3Neurosurgery, Charing Cross Hospital, London W6 8RF, UK
  1. Correspondence to: Z Sheikh zishansheikh{at}hotmail.com

A 19 year old man presented to the emergency department with sudden onset shortness of breath and sharp left sided chest pain that was worse on inspiration. He had no history of trauma and had been otherwise well before the onset of these symptoms. However, a year ago he had twice presented to hospital with similar symptoms. He had also undergone surgery on one of his heart valves two years previously but was unclear about the details. The only drug he was taking was warfarin for long term anticoagulation.

The patient was tall, thin, and visibly short of breath but was able to complete full sentences. Closer examination showed a respiratory rate of 22 breaths/min, a non-deviated trachea, and reduced air entry over the left hemithorax with a resonant percussion note throughout. Precordial auscultation showed a soft systolic murmur and mechanical S2, which was loudest over the cardiac apex. The jugular venous pulse was not visibly raised, the patient was normotensive, and pulse oximetry measured his oxygen saturation at 95% on room air.

Twelve lead electrocardiography showed normal sinus rhythm with no other abnormalities. Full blood count, renal function, electrolytes, and clotting were all normal, with an international normalised ratio of 1.1 reflecting poor compliance with warfarin. Chest radiography was performed (fig 1).

Questions

  • 1 What abnormalities are visible on the chest radiograph?

  • 2 What unifying diagnosis explains all these abnormalities?

  • 3 What criteria are used to establish a definitive diagnosis?

  • 4 What are the common clinical manifestations of this syndrome?

  • 5 What is the genetic basis of this disease?

Answers

1 What abnormalities are visible on the chest radiograph?

Short answer

A large left sided pneumothorax is present. A mechanical valve is seen in situ in the aortic position with some overlying metallic sternal sutures. Allowing for rotation, there is a degree of thoracic spine scoliosis.

Long answer

A large left sided …

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