Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
July 31, 2018American Journal of Medical Genetics Part A

Mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers–Danlos syndrome and related disorders

View Full Paper
Ask AI
Bookmark
Share

Key result

Among 209 adults with Ehlers-Danlos syndromes and related disorders, the prevalence of mitral valve prolapse was 6.4% and aortic root dilation was 1.6%, with no cases requiring surgical intervention.

Why the study?

What is the frequency of clinically significant mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers-Danlos syndrome and related disorders?

Population

209 individuals with classical Ehlers-Danlos syndrome, hypermobile EDS, and hypermobility spectrum disorders…

Design

Cohort

Authors

SAStephanie AsherUniversity of PennsylvaniaRCRensa ChenPenn State Milton S. Hershey Medical CenterSKStaci KallishChildren's Hospital of Philadelphia

Discussion

Loading...

Member takes

Implication

May support symptom-driven echocardiography over routine screening; leaves open confirmation in larger prospective cohorts.

Key Points

  • To determine the prevalence and severity of mitral valve prolapse (MVP) and aortic root dilation (ARD) in adult patients with classical EDS, hypermobile EDS, and hypermobility spectrum disorders.
  • Retrospective chart review of adult patients diagnosed with classical EDS, hypermobile EDS, or hypermobility spectrum disorders.
  • Analyzed diagnostic echocardiogram results across a single cohort of N=209 individuals (with aortic root measurements recorded in N=189).
  • Mitral valve prolapse occurred in 6.4% (13/209) of patients, with zero cases classified as severe or requiring surgical intervention.
  • Aortic root dilation was present in 1.6% (3/189) of evaluated patients, and no individuals had aortic dimensions meeting criteria for surgical repair.

Study Design

Type

Observational (n=209)

Structured PICO

What is the frequency of clinically significant mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers-Danlos syndrome and related disorders?

P
Population
209 individuals with classical Ehlers-Danlos syndrome (cEDS), hypermobile EDS (hEDS), and hypermobility spectrum disorders who had echocardiograms
O
Outcome
Frequency of mitral valve prolapse (MVP) and aortic root dilation (ARD)surrogate

Routine echocardiograms to assess for valvular diseases and aortic root dilation may not be necessary in adults with hypermobile Ehlers-Danlos syndrome unless warranted by symptoms or family history.

Cite This Study

Asher et al. (2018) conducted an observational in Ehlers-Danlos syndromes and hypermobility spectrum disorders (n=209). Among 209 adults with Ehlers-Danlos syndromes and related disorders, the prevalence of mitral valve prolapse was 6.4% and aortic root dilation was 1.6%, with no cases requiring surgical intervention.

synapsesocial.com/papers/6a1547895c7c86e0359f4c19https://doi.org/10.1002/ajmg.a.40364

Topics

Echocardiography
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Aortic Root Dilatation at Sinuses of Valsalva and Aortic Regurgitation in Hypertensive and Normotensive Subjects2001 · 140 citations
  2. 2Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers–Danlos syndrome cohort2017 · 16 citations
  3. 3Prevalence and correlates of aortic root dilatation in patients with essential hypertension: relationship with cardiac and extracardiac target organ damage2006 · 94 citations
  4. 4The Spectrum of Cardiac Defects in the Ehlers-Danlos Syndrome, Types I and III1980 · 163 citations
  5. 5The 2017 international classification of the Ehlers–Danlos syndromes2017 · 1,952 citations