Marfan's syndrome other diagnostic studies

Marfan's syndrome Microchapters
Home
Patient Information
Overview
Historical Perspective
Pathophysiology
Differentiating Marfan's Syndrome from other Diseases
Epidemiology and Demographics
Screening
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
Chest X Ray
CT
MRI
Echocardiography
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Marfan's syndrome other diagnostic studies On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Marfan's syndrome other diagnostic studies All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Marfan's syndrome other diagnostic studies
on Marfan's syndrome other diagnostic studies
Marfan's syndrome other diagnostic studies in the news
Blogs on Marfan's syndrome other diagnostic studies
Directions to Hospitals Treating Marfan's syndrome
Risk calculators and risk factors for Marfan's syndrome other diagnostic studies

Editors-In-Chief: William James Gibson, C. Michael Gibson, M.S., M.D.

Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [1] ; Assistant Editor-In-Chief: Cassandra Abueg, M.P.H. [2]

Other Diagnostic Studies

Molecular Diagnostics

Molecular diagnostics, namely DNA sequencing can be extremely informative for the diagnosis of Marfan syndrome. A 2008 study showed that while only 79% of known probands could be diagnosed with Marfan syndrome using clinical criteria, 90% of these individuals could be diagnosed using the international criteria when sequencing data was added. In children, this figure leapt from 56% to 85% with sequencing data. The increased diagnostic sensitivity conferred by genetic information promises to be especially useful in children who have not developed clinical manifestations, but in whom new pharmacological interventions may be successful.