Concordance between mitral valve prolapse and abnormal collagen synthesis in phenotypically expressed and occult Ehlers Danlos syndrome

1980 ◽  
Vol 45 (2) ◽  
pp. 442
Author(s):  
Allan S. Jaffe ◽  
Edward M. Geltman ◽  
Michael E. Cain ◽  
Jouni Ditto
Keyword(s):  
Mitral Valve ◽  
Mitral Valve Prolapse ◽  
Collagen Synthesis ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Cardiovascular manifestations of hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders

2022 ◽  
pp. 1358863X2110675
Author(s):  
Eman R Rashed ◽  
Tania Ruiz Maya ◽  
Jennifer Black ◽  
Veronica Fettig ◽  
Daniella Kadian-Dodov ◽  
...  
Keyword(s):  
Mitral Valve ◽  
Mitral Valve Prolapse ◽  
Joint Hypermobility ◽  
Artery Dissection ◽  
Cervical Artery Dissection ◽  
Aortic Dilatation ◽  
Coronary Artery Dissection ◽  
Ehlers Danlos Syndrome ◽  
Artery Pseudoaneurysm ◽  
Danlos Syndrome

Introduction: Mitral valve prolapse and aortic root dilatation are reported in association with hypermobile Ehlers–Danlos syndrome (hEDS), but the full phenotypic spectrum of cardiovascular complications in this condition has not been studied in the aftermath of updated nosology and diagnostic criteria. Methods: We performed a retrospective review of 258 patients (> 94% adults) referred to a multidisciplinary clinic for evaluation of joint hypermobility between January 2017 and December 2020 and diagnosed with hEDS or a hypermobility spectrum disorder (HSD) to determine the incidence and spectrum of cardiovascular involvement. Results: Mitral valve prolapse was present in 7.5% and thoracic aortic dilatation in 15.2%. Aortic dilatation was more frequent in individuals with hEDS (20.7%) than with HSD (7.7%) and similarly prevalent between males and females, although was mild in > 90% of females and moderate-to-severe in 50% of males. Five individuals (1.9%) with hEDS/HSD had extra-aortic arterial involvement, including cervical artery dissection (CeAD, n = 2), spontaneous coronary artery dissection (SCAD, n = 2), and SCAD plus celiac artery pseudoaneurysm ( n = 1). This is the first series to report the prevalence of CeAD and SCAD in hEDS/HSD. Conclusions: Cardiovascular manifestations in adults with hEDS/HSD, especially females, are typically mild and readily assessed by echocardiography. Since the risk of progression has not yet been defined, adults with hEDS/HSD who are found to have aortic dilatation at baseline should continue ongoing surveillance to monitor for progressive dilatation. Cardiovascular medicine specialists, neurologists, and neurosurgeons should consider hEDS/HSD on the differential for patients with CeAD or SCAD who also have joint hypermobility.

Surgical experience for prolapse of both atrioventricular valves in a patient with filamin A mutation

2014 ◽  
Vol 25 (2) ◽  
pp. 365-367 ◽  
Author(s):  
Takaya Hoashi ◽  
Isao Shiraishi ◽  
Hajime Ichikawa
Keyword(s):  
Mitral Valve ◽  
Mitral Regurgitation ◽  
Valve Replacement ◽  
Tricuspid Regurgitation ◽  
Severe Mitral Regurgitation ◽  
Filamin A ◽  
Surgical Experience ◽  
Ehlers Danlos Syndrome ◽  
Tricuspid Annuloplasty ◽  
Danlos Syndrome

AbstractA 21-year-old man underwent mitral valve replacement and tricuspid annuloplasty for severe mitral regurgitation and moderate tricuspid regurgitation. Until the operation, he had been treated for hypermobility type Ehlers–Danlos syndrome. Gene examination revealed a mutation in filamin A gene, which is the gene responsible for X-linked myxomatous valvular dystrophy.

scholarly journals Mitral valve phenotype in vascular Ehlers Danlos syndrome

2018 ◽  
Vol 10 (1) ◽  
pp. 107
Author(s):  
S. Zarka ◽  
A. Rossi ◽  
S. Abouth ◽  
M. Frank ◽  
G. Goudot ◽  
...  
Keyword(s):  
Mitral Valve ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Mitral valve endocarditis in a patient with Ehlers–Danlos syndrome

2013 ◽  
Vol 62 (2) ◽  
pp. 119-121 ◽  
Author(s):  
Ioannis Koukis ◽  
Jennifer Kingston ◽  
Panagiotis Dedeilias ◽  
Brian Prendergast
Keyword(s):  
Mitral Valve ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

scholarly journals Spontaneous perforation of the stomach and duodenum in children with Ehlers‑Danlos syndrome

2021 ◽  
Vol 1 (1) ◽  
pp. 176-182
Author(s):  
M. A. Amanova ◽  
A. N. Smirnov ◽  
V. V. Kholostova ◽  
A. G. Mannanov ◽  
S. A. Voina ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Collagen Synthesis ◽  
Soft Tissues ◽  
Clinical Manifestations ◽  
Elastic Fibers ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
The Individual ◽  
Rupture Of The Spleen ◽  
Danlos Syndrome

Ehlers-Danlos syndrome is based on hereditary systemic dysfunction of the connective tissue caused by impaired collagen synthesis. Depending on the individual mutation, the clinical manifestations of the syndrome can range from mild to life-threatening. The result of a violation of collagen synthesis is the proliferation of elastic fibers, loss of compactness and disorientation of collagen fibers, fragility of the vessel wall and expansion of their lumen. And, given that connective tissue fibers are present in almost every organ, the manifestations of Ehlers-Danlos syndrome are polymorphic and generalized, which often complicates the verification of this disease. The most clinically important is the Ehlers-Danlos Syndrome IV (vascular) type, which occurs as a result of mutations in the COL3A1 and COL1A1 genes and manifests itself in a tendency to spontaneous rupture of large arteries and hollow organs (intestinal perforation, strokes, rupture of the spleen, etc.), poor wound healing, fragility soft tissues, impaired hemostasis. The article describes our own experience of treating 4 patients with spontaneous ruptures of internal organs, including those of a recurrent nature.

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