Marfan Syndrome-An Echocardiographer's Perspective

Chih Chieh Yu, Yi Ning Su, Jiunn-Lee Lin, Ling Ping Lai

Research output: Contribution to journalReview article

Abstract

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.

Original languageEnglish
Pages (from-to)1-6
Number of pages6
JournalJournal of Medical Ultrasound
Volume19
Issue number1
DOIs
Publication statusPublished - Jan 1 2011
Externally publishedYes

Fingerprint

Marfan Syndrome
Rare Diseases
Phenotype
Mutation

Keywords

  • Aortic dissection
  • Ectopia lentis
  • Fibrillin
  • Marfan syndrome

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

Cite this

Marfan Syndrome-An Echocardiographer's Perspective. / Yu, Chih Chieh; Su, Yi Ning; Lin, Jiunn-Lee; Lai, Ling Ping.

In: Journal of Medical Ultrasound, Vol. 19, No. 1, 01.01.2011, p. 1-6.

Research output: Contribution to journalReview article

Yu, Chih Chieh ; Su, Yi Ning ; Lin, Jiunn-Lee ; Lai, Ling Ping. / Marfan Syndrome-An Echocardiographer's Perspective. In: Journal of Medical Ultrasound. 2011 ; Vol. 19, No. 1. pp. 1-6.
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