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.