Show YAML
name: com_Hypermobile_Ehlers-Danlos_Syndrome__Mitral_Valve_Prolapse
creation_date: '2026-09-18T02:57:53Z'
curation_status: CANDIDATE
notes: >-
Mitral valve prolapse (MVP) and aortic root dilation are part of the 2017
hEDS diagnostic criteria's cardiovascular assessment, and earlier smaller
studies reported MVP in 6-21% of hEDS/HSD patients, motivating a widely
held assumption of substantial excess prevalence. A large, well-defined
Mayo Clinic EDS Clinic cohort (n=568 with echocardiogram data, diagnosed
per the 2017 criteria) found diagnosed MVP in only 3.5% of hEDS patients
(6/170) -- similar to a cited general-population prevalence of 2.7% -- and
explicitly concluded that cardiac defects in hEDS/HSD are similar to the
general population. This contrasts with an earlier, smaller
specialty-clinic cohort (Rashed et al., cited within this paper but not
independently verified here) reporting 7.5% MVP in combined hEDS/HSD,
which the authors attribute to referral bias toward patients with more
cardiovascular concerns. This entry records the larger, more recent,
criteria-consistent cohort as the primary signal, honestly characterized
as REFUTE for a large comorbidity effect. Directionality is UNKNOWN. No
ICEES KG signal exists for this pair: hEDS (MONDO:0007523) is not a node
in the ICEES KG snapshot at all (confirmed while curating the hEDS-POTS
comorbidity entry).
disease_a:
slug: Hypermobile_Ehlers-Danlos_Syndrome
preferred_term: Ehlers-Danlos syndrome, hypermobility type
term:
id: MONDO:0007523
label: Ehlers-Danlos syndrome, hypermobility type
disease_b:
slug: Mitral_Valve_Prolapse
preferred_term: mitral valve prolapse
term:
id: MONDO:0004910
label: mitral valve prolapse
directionality: UNKNOWN
hypotheses:
- description: >-
Hypothesis under test: connective-tissue laxity affecting the mitral
valve leaflets and chordae tendineae in hEDS produces excess MVP
prevalence relative to the general population, motivating its inclusion
in the 2017 hEDS diagnostic criteria's cardiovascular workup. The largest
well-characterized cohort assessed against the current diagnostic
criteria found MVP prevalence in hEDS similar to the general population,
arguing against a large mechanistic effect, though the authors note
smaller/differently-ascertained cohorts have reported higher rates.
evidence:
- reference: PMID:38562189
reference_title: "Cardiac defects of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective cohort study."
supports: REFUTE
quote_role: PRIMARY_RESULT
evidence_source: HUMAN_CLINICAL
snippet: "The prevalence of MVP in patients in this study with hEDS was 3.5% or HSD was 1.8%, similar to the prevalence of MVP in the general population of 2.7%"
explanation: >-
The study's own discussion directly compares its finding against the
general-population MVP prevalence and concludes they are similar,
arguing against a large connective-tissue-laxity effect on MVP risk.
pathophysiology:
- name: Mitral valve connective-tissue laxity (mild, non-excess)
description: >-
Laxity of the mitral valve leaflets and chordae tendineae is the
proposed mechanism for MVP in hEDS, part of the rationale for including
cardiovascular assessment in the 2017 diagnostic criteria, though the
largest criteria-consistent cohort found this does not translate into
a substantially elevated MVP prevalence versus the general population.
biological_processes:
- preferred_term: heart valve development
term:
id: GO:0003170
label: heart valve development
association_signals:
- source: LITERATURE
method: LITERATURE_ASSOCIATION
signal_disorder_a_id: MONDO:0007523
signal_disorder_b_id: MONDO:0004910
population: >-
Retrospective cohort of 568 adult patients (170 with hEDS, 398 with HSD)
diagnosed per the 2017 EDS diagnostic criteria at the Mayo Clinic EDS
Clinic, Jacksonville, Florida (November 2019-June 2022), with at least
one echocardiogram.
mapping_notes: >-
Recorded as REFUTE for a large hEDS-MVP comorbidity effect: this is the
largest cohort assessed against the current (2017) diagnostic criteria,
and it found MVP prevalence in hEDS similar to the general population,
in contrast to some smaller or differently-ascertained earlier cohorts.
directionality: UNKNOWN
statistics:
metrics:
- metric_type: PREVALENCE
metric_value: 3.5
notes: >-
Diagnosed MVP prevalence in hEDS patients (6/170), versus a cited
general-population prevalence of 2.7%.
evidence:
- reference: PMID:38562189
reference_title: "Cardiac defects of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective cohort study."
supports: REFUTE
evidence_source: HUMAN_CLINICAL
snippet: "The prevalence of diagnosed mitral valve prolapse in patients with hEDS was 3.5% and HSD was 1.8%."
explanation: >-
Quantifies MVP prevalence in the largest criteria-consistent hEDS
cohort assessed by echocardiogram.
- reference: PMID:38562189
reference_title: "Cardiac defects of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective cohort study."
supports: REFUTE
quote_role: PRIMARY_RESULT
evidence_source: HUMAN_CLINICAL
snippet: "Overall, our findings indicate that cardiac defects in patients with hEDS/HSD are similar to the general population."
explanation: >-
The study's own conclusion, summarizing the MVP and aortic-root
dilation findings together.
- source: ICEES
method: EHR_COHORT_ASSOCIATION
signal_disorder_a_id: MONDO:0007523
signal_disorder_b_id: MONDO:0004910
population: ICEES KG snapshot 8-20-2024 (RENCI/UNC).
mapping_notes: >-
Searched: the local ICEES KG snapshot (rebuilt with `just icees-refresh`)
contains only 226 nodes total, a small set of UNC-Health cohort-specific
concepts. hEDS (MONDO:0007523) does not appear among them -- confirmed
by grepping the decompressed node list directly (same check performed
for the hEDS-POTS comorbidity entry). No ICEES signal exists for this
pair in the current snapshot; recorded here rather than silently
omitted.
directionality: UNKNOWN