Marfan syndrome (MFS) is a rare disease that has a devastating outcome when cardiovascular complications occur. MFS diagnostic criteria have been revised several times since the causative mutation was detected. The most specific diagnostic phenotype is cardiovascular manifestation, which also signals the need for close follow-up; MFS patients may ultimately develop lethal complications during their third or fourth decade of life. An echocardiographer must be familiar with the cardiovascular presentation of the MFS patient and be aware of specific measures to be followed if MFS is suspected. Patients should be examined carefully for other disease symptoms to differentiate MFS from alternative diagnoses.
ASJC Scopus subject areas