The Whistleblower

It was a sunny July afternoon and time to wrap up for the day. A quick glance at the patient list however, and before you knew it I was taking a history.
Intermittent lower leg edema the last couple of months in a 40-or so woman. Physically active every day. No other complaints. No past medical history and no medication. A pinch of short stature and a pinch of overweight. Vital signs were ok. Lower extremities slender. All in all currently asymptomatic and seemingly well. This was a clear-cut case of thoracic aortic aneurysm involving the roots of the coronary arteries. Now all I had to do was convince the surgeon to perform a composite graft implantation.
A quick physical revealed a diastolic decrescendo murmur 2/6 at IC2-3 left parasternal. No rumbling, anterior mitral leaflet Austin-Flynt murmur over the apex, but it was good enough to justify a bedside echo. Lo and behold, a 6cm wide ascending thoracic aortic aneurysm with a mild aortic insufficiency.

But let’s drop the cool. Was this simply an ad-hoc finding? What was I looking for with the ultrasound? To make things clear, a diastolic murmur always warrants further diagnostics. But was the absent lower extremity edema related to the TAA? Perhaps it was, perhaps it wasn’t, perhaps it was hormones. Her neck was a bit short. Webbing of the neck springs to mind, and as such Noonan and Turner syndromes. Just as in Marfan-, Ehler-Danlos- and Loeys-Dietz syndromes, diseases effecting connective tissue, there is a relation to pathology of the aorta. Did I think of this? No. Upon focused history regarding chest pain, burried beneath a thick layer of anxiety, in the trunk of an old caaar, much was revealed. Onset, location, duration, character, alleviating- & aggravating factors, accessory symptom and radiating pain. First onset one year ago, 1-4 times a week, increasing in frequency lately. Episodes described as sudden in onset, retro sternal, stabbing chest pain radiating to the right arm and back. Aggravate by lifting boxes at work or while straining upon defecation, 5-10 minutes of duration, alleviated by rest.  Accessory symptom of dispnea while lying supine, alleviated by lying in lateralt decubitus. Compression of adjacent organs? She admitted to rationalizing the pain because there was no radiation to the left arm.

Boy oh boy was I worried. A young, vital woman in her prime with an intermittently symptomatic TAA and open heart surgery around the corner. I’ll leave you suspended in mid-air to appreciate the emotional limbo. Goal systolic BP < 120 until then.