CASE REPORT
The patient presented to the cardiologist for echocardiography after a
3-month history of palpitations. Prior to this, he had had no
significant medical complaints except for frequent visits to see the
optician over the past 5 years resulting in the need to use spectacles.
As part of the initial assessment for the palpitations, his general
practitioner has asked for an electrocardiogram and chest x-ray to be
done and subsequently referred to the cardiologist for the
echocardiogram. It was during the interaction with the cardiologist that
the strikingly tall physique and echocardiographic abnormalities
initiated the assessment for possible MFS.
The patient admitted to dull left-sided chest pain which was
non-radiating and not associated with exertion, meals, breathing or
movement. He had progressively worsening fatigue on moderate exertion of
a two-month duration but had no associated cough, dyspnea, or pedal
swelling. The palpitations were not associated with dizziness or loss of
consciousness.
He admitted to blurred vision for 5 years which had worsened over the
period requiring the use of glasses for short-sightedness but had no
noticeable eye discoloration, redness, dryness, or tearing.
Since his adolescence, he had been noticeably more flexible than his
peers, allowing him more fluidity as a drummer. He had no other joint
pain, rash, or dislocation.
There were no abdominal or neurological symptoms of note.
The patient was the tallest member of his family and there was no
history of heart disease among siblings or mother. The patient had not,
however, been in contact with his father. All family members were
bespectacled and had no distinguishing physical features.
He denied the use of alcohol, tobacco, or illicit drugs and was
currently studying computer science at the university.