4th March 2024

A 23-year-old female attended her GP, and a new diastolic murmur was heard

A 23-year-old female attended her GP, and a new diastolic murmur was heard. She had been troubled with joint pain for several years before the presentation. Examination reveals an abnormally long arm span with a pectus carinatum. She can wrap her thumb and ᶠᶦᶠᵗʰ finger along her wrist, and her thumb protrudes out of her hand when making a fist. She has also been previously treated for spontaneous pneumothorax. Her father had passed away suddenly following an aortic dissection and had similar examination features.

Which investigation will likely aid in the diagnosis of her underlying genetic condition?

Select the SINGLE most appropriate option from the list below. Select ONE option only.