Carried by: FAVAMULTI
References:
Clinician(s): Guillaume JONDEAU
Biologist(s): Nadine HANNA, Pauline ARNAUD
Presentation
Familial form of Marfan Syndrome (MFS) or related pathology or Thoracic Aortic Aneurysm (TAA).
Sporadic form of MFS or related syndromic pathology and trio analysis.
With negative diagnostic NGS panel as first-line test.
Criteria before considering a discussion in MDM-FMG
Familial form of MFS or related pathology or TAA
- Possible inclusion of at least three living affected individuals (variable configuration with the possibility of including more affected subjects, healthy subjects possible if non-transmitting parent or other relative aged at least 50 years old and normal echocardiography)
- Definition of aortic dilatation according to Campens: >3.5 SD in children and >2.5 SD in adults
- Be aware of risk factors for TAA: bicuspid aortic valve, high blood pressure, etc.
Sporadic form of MFS or related syndromic pathology
- Diagnostic suspicion must be strong (based on major involvement of at least two systems according to the 1996 Ghent nosology)
- Complete clinical examination of parents and additional tests
- Trio analysis
Negative diagnostic NGS panel
Genome Sequencing in diagnostic strategy
MDM cartography
MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact
MDM Marfan syndrome and related conditions
National
Paris
Guillaume JONDEAU