Ehlers-Danlos Syndrome, Cardiac Valvular Form

Last update 01 Nov 2024

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Cardiac valvular form of Ehlers-Danlos syndrome, Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome, Ehlers-Danlos Syndrome, Arthrochalasis Type

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100 Clinical Results associated with Ehlers-Danlos Syndrome, Cardiac Valvular Form

100 Translational Medicine associated with Ehlers-Danlos Syndrome, Cardiac Valvular Form

0 Patents (Medical) associated with Ehlers-Danlos Syndrome, Cardiac Valvular Form

Literatures (Medical) associated with Ehlers-Danlos Syndrome, Cardiac Valvular Form

01 Jan 2023·The journal of Tehran Heart Center

To Repair or Replace the Mitral Valve in Ehlers-Danlos Syndrome? A Case Report.

Author: Hosseini, Saeid ; Salari, Soheila ; Kavyani, Raheleh ; Norozi, Zeinab ; Maleki, Majid

Cardiac valvular Ehlers-Danlos syndrome (EDS) (type IV) is a rare subtype of the syndrome. The progressive and severe involvement of the heart valves is the principal characteristic of cardiovascular EDS, hence the necessity of the screening of patients with EDS for possible cardiovascular complications. We herein describe a 17-year-old male patient, with a known case of Ehlers-Danlos syndrome, who was referred to our center due to symptomatic severe mitral regurgitation. Echocardiography showed the flailing of the A3 scallop of the mitral valve (MV) and severe enlargement of the left ventricle and the left atrium with mild systolic dysfunction. A physical examination revealed joint hyperlaxity, skin hyperelasticity, and abdominal hernias. He was, therefore, scheduled for surgery. MV repair was performed via commissuroplasty and ring annuloplasty, with an acceptable saline test. After being weaned from cardiopulmonary bypass, the patient had mild mitral regurgitation, which escalated to moderate-to-severe mitral within minutes. Consequently, the MV was replaced with a bioprosthetic valve. The postoperative course was uneventful. Due to the high fragility of the MV, any resection and sewing of its fragile leaflets may produce residual regurgitation and necessitate valve replacement. MV replacement may be more logical in such patients. Our patient's postoperative course was uneventful, and he was discharged without symptoms. Over 1 and 3 months of follow-up, he remained asymptomatic, and transthoracic echocardiography showed a normal bioprosthetic MV without paravalvular leakage.

01 Jul 2021·Journal of Medical Cases

Hyperdynamic Valve: A Rare Case of Ehlers-Danlos Syndrome

Author: Pires, Sofia Xavier ; Cordeiro, Filipa ; Paiva, David ; Fernandes, Magda ; Cotter, Jorge ; Pereira, Gabriela

Ehlers-Danlos syndrome is a group of rare genetic disorders of collagen characterized by skin hyperextensibility, joint hypermobility and tissue fragility. The authors describe a rare case of a 52-year-old woman that presented to the clinic with chronic joint pain and talipes equinovarum since childhood. Large eyes, sunken cheeks, thin nose and lobeless ears were noticed on clinical examination. Beighton joint hypermotility criteria were met with a positive Walker and Steinberg sign, elbow extension superior to 10° and knee extension in genu recurvatum more than 10°. An aortic diastolic grade III/VI heart murmur was heard. The complementary study was unremarkable. Moderate aortic insufficiency was found on transthoracic echocardiogram. Genetic testing confirmed positivity for COL1A2, a gene that encodes pro-alpha2 chain type of collagen, which causes cardiac-valvular Ehlers-Danlos syndrome. Authors intend to warn to collagen-related syndromes, since severe complications are associated with a reduced life expectancy for individuals with this condition.

01 May 2019·American Journal of Medical Genetics Part AQ3 · BIOLOGY

Cardiac valvular Ehlers‐Danlos syndrome is a well‐defined condition due to recessive null variants in COL1A2

Q3 · BIOLOGY

Article

Author: Mastroianno, Sandra ; Di Stolfo, Giuseppe ; Morlino, Silvia ; Castori, Marco ; Mazza, Tommaso ; Guarnieri, Vito

Cardiac valvular Ehlers‐Danlos syndrome (EDS) is a rare EDS subtype, caused by specific recessive variants in the gene encoding pro‐α2‐chain of type I collagen (COL1A2). Cardiac valvular EDS is mainly characterized by generalized/peripheral joint hypermobility, moderate–severe cardiac valvular disease, skin hyperextensibility and other minor soft tissues features. Only five molecularly confirmed patients have been reported to date. Here, we describe two additional affected sisters, who share the homozygous c.3601G>T nonsense variant in COL1A2. Clinical data and literature review allowed to better define the clinical spectrum of cardiac valvular EDS which now emerges as a more recognizable EDS variant with progressive heart valve disease firstly affecting the mitral valve. Possibly distinguishing features include bilateral flatfeet with hindfoot pronation, lower eyelid ptosis and hypoplasia of the interphalangeal creases. The absence of bone fragility in our patients indicates that cardiac valvular EDS is also separated from patients with autosomal recessive osteogenesis imperfecta and variants in COL1A2, as well as from individuals with autosomal dominant osteogenesis imperfecta and severe cardiac valvular disease.

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Ehlers-Danlos Syndrome, Cardiac Valvular Form

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