Call for Abstracts | The Marfan Foundation

Call for Abstracts

Call for Abstracts 
Abstract Submission Deadline EXTENDEDJanuary 19, 2018
Abstract NotificationsFebruary 6, 2018

Abstracts in basic, clinical, and surgical research are welcomed on the following topics. 

Session 1:  Molecular Pathogenesis in MFS and RD

What cellular events and signaling pathways drive aortic aneurysm and other manifestations of Marfan syndrome and related disorders? How do they cross-talk with each other? Which events represent vulnerabilities in disease pathogenesis and represent attractive treatment targets?

How do FBN1 and related genetic defects alter mechanosignaling and mechanosensing and transduction in aortopathies? How is FBN-1 assembly regulated and which ancillary molecules and pathways participate?

Session 2:  Genetic and Environmental Modifiers of Marfan Syndrome and Related Disorders Phenotypic Variability

What is the nature of genetic modifiers that influence phenotypic outcome in MFS? What genetic modifiers underlie the absence of systemic features in nonsyndromic FBN-1 mutations with sporadic dissection? What is the influence of gender, pregnancy and lactation? Which environmental factors (e.g. exercise, circadian rhythm, exposures…) determine outcome? Is there a role for epigenetic alterations that can integrate environmental influences in the regulation of gene expression programs? 

Session 3:  New Model Systems and New Technologies

How can zebrafish, induced pluripotent stem cells, new molecular and structural methods and emerging technologies such as Crispr-Cas9 advance Marfan Syndrome research?

Session 4:  Lessons from Marfan Syndrome Animals Models

What can be learned from the differences between the existing models? What are the strengths and weaknesses of these systems? Which Marfan syndrome features are best studied in mouse models? What have other animal species taught us about Marfan syndrome and related disorders?

Session 5:  Genotype/Phenotype Correlation in Marfan Syndrome and Related Disorders

What new insights regarding phenotype-genotype correlations have emerged? How predictable are the clinical features?   Are they useful to guide prognostication, surgical thresholds, imaging, or stratification of treatment?  Is there ascertainment bias when developing genotype/phenotype relationship? What are the clinical and genetic database needs of the global community?

Session 6:  Advances in Imaging and Biomarkers

What new advances in imaging or biomarker development can inform patient diagnosis, counseling, or management? What are the new imaging predicators of aortic dilatation by biomechanical and flow dynamic analysis?

Session 7:  Insights Regarding Ocular Findings in Marfan Syndrome and Related Disorders

What factors or events drive myopia, lens dislocation, retinal detachment or strabismus in Marfan syndrome and related disorders? Have there been advances in management of these conditions? What do the genetics of familial Ectopia lentis syndrome inform us about risk for (late) aortic dilatation? What are the new advances in intraocular lenses and surgeries?  Have they become safer?

Session 8: Insights Regarding Orthopedic Manifestations in Marfan Syndrome and Related Disorders

What is the mechanism of orthopedic manifestations of Marfan syndrome and related disorders? Have there been advances in the management of these conditions including dural ectasia pulmonary issues and sleep apnea?

Session 9:  Advances in Aortic Interventions

What are the long term data on medical treatment outcomes?  What are the long term outcome of aortic valve sparing procedures? What are the optimal valve replacement methods? What are the recent outcomes of PEARS? Are there indications for endovascular procedures?

What is the long-term risk of type B aortic dissection after root replacement and the predictors of such events? Is there information about risk factors (environmental, genetic) for vascular disease distal to the root and in the peripheral vessels in FBN1 disease?

Are there updates in surgical thresholds in Marfan syndrome and related disorders? What have we learned from clinical practice and have databases provided insight?

Session 10:  New Insights in Mitral Valve, Myocardial and Arrhythmogenic Disease in Marfan Syndrome

What are the outcomes of remodeling versus replacement in mitral valve disease? What is the role of shared decision making?

Session 11:  Medical and Holistic Treatment Options for Pain in Marfan Syndrome
What are the current approaches to treatment of headache and migraine in Marfan syndrome? What is the role of medical and physical therapy in pain management and quality of life? What do mouse models inform us about routine exercise in Marfan syndrome?  What are the data regarding cardiac rehabilitation in Marfan syndrome and related disorders and in patients post-aortic dissection?


  • Abstract must be written in English.
  • Titles of abstracts should be in capital letters.
  • The names of the authors should be listed in the following order: last name, first name, degree, department, institution, city, state, and country. All authors should be listed, then their affiliations.
  • The presenting author's name should be underlined.
  • The abstract should be a maximum of 250 words and should include sections on objectives, methods, results, and conclusions.
  • Please use 10pt Arial, single spaced, and 1" margins.
  • There is no limit to the number of abstracts a presenter can submit, but the scientific committee expects that all abstracts selected for presentation will be presented by the first author either as a platform presentation or poster.
  • Abstracts should be submitted electronically by midnight on December 15, 2017.
  • All authors will receive notification of poster presentation by January 15, 2018 or earlier.

Any questions or inquiries should be directed to Diane McKenzie, at or 516-883-8712, ext. 136.