Heritable Connective Tissue Disorders: A Review of Marfan Syndrome, Ehlers-Danlos Syndromes, and Loeys-Dietz Syndrome
Abstract/Description/Artist Statement
Background:
Heritable connective tissue disorders, such as Marfan syndrome (MFS), hypermobile Ehlers-Danlos syndrome (hEDS), Loeys-Dietz Syndrome (LDS) and vascular Ehlers-Danlos syndrome (vEDS), present with overlapping clinical features, yet differ markedly in genetic mechanisms, vascular risk, and management strategies. Phenotypic variability and evolving criteria complicate early diagnosis and risk stratification.
Methods:
A narrative literature review was conducted using the online databases: PubMed, Google Scholar, and Cochrane Library. Peer-reviewed articles addressing genetic etiology, clinical manifestations, vascular complications, and current management strategies for MFS, hEDS, LD, and vEDS were included..
Results:
MFS is caused by FBN1 mutations and is diagnosed currently using the revised Ghent criteria, with aortic root dilation representing the major cause of morbidity and mortality. LDS results from mutations affecting the TGF-beta signaling pathway (TGFBR1/2, SMAD2/3, TGFB2/3) and is characterized by aggressive, early-onset vascular disease requiring early surgical intervention and complete vascular surveillance. vEDS, caused by COL3A1 mutations, leads to arterial and organ fragility with high risk of spontaneous rupture. Emerging evidence suggests that inflammatory and signaling pathway dysregulation contribute to disease pathology across these disorders. Current medical therapies including beta-blockers, angiotensin receptor blockers, and celiprolol, show potential in reducing vascular events, although disease specific randomized data remains limited.
Conclusions:
Although these conditions share phenotypic similarities, they have their own distinct genetic entities with differing prognoses and management requirements. A genotype informed, multidisciplinary approach is essential for accurate diagnosis and improved patient outcomes.
Faculty Advisor/Mentor
Dr. April Pace, DHSc, MLIS
Faculty Advisor/Mentor Department
paceaa@odu.edu
College/School Affiliation
Eastern Virginia School of Medicine
Student Level Group
Medical
Presentation Type
Poster
Heritable Connective Tissue Disorders: A Review of Marfan Syndrome, Ehlers-Danlos Syndromes, and Loeys-Dietz Syndrome
Background:
Heritable connective tissue disorders, such as Marfan syndrome (MFS), hypermobile Ehlers-Danlos syndrome (hEDS), Loeys-Dietz Syndrome (LDS) and vascular Ehlers-Danlos syndrome (vEDS), present with overlapping clinical features, yet differ markedly in genetic mechanisms, vascular risk, and management strategies. Phenotypic variability and evolving criteria complicate early diagnosis and risk stratification.
Methods:
A narrative literature review was conducted using the online databases: PubMed, Google Scholar, and Cochrane Library. Peer-reviewed articles addressing genetic etiology, clinical manifestations, vascular complications, and current management strategies for MFS, hEDS, LD, and vEDS were included..
Results:
MFS is caused by FBN1 mutations and is diagnosed currently using the revised Ghent criteria, with aortic root dilation representing the major cause of morbidity and mortality. LDS results from mutations affecting the TGF-beta signaling pathway (TGFBR1/2, SMAD2/3, TGFB2/3) and is characterized by aggressive, early-onset vascular disease requiring early surgical intervention and complete vascular surveillance. vEDS, caused by COL3A1 mutations, leads to arterial and organ fragility with high risk of spontaneous rupture. Emerging evidence suggests that inflammatory and signaling pathway dysregulation contribute to disease pathology across these disorders. Current medical therapies including beta-blockers, angiotensin receptor blockers, and celiprolol, show potential in reducing vascular events, although disease specific randomized data remains limited.
Conclusions:
Although these conditions share phenotypic similarities, they have their own distinct genetic entities with differing prognoses and management requirements. A genotype informed, multidisciplinary approach is essential for accurate diagnosis and improved patient outcomes.