Vascular EDS

Exploring the Hemorrhagic Manifestations of an Adolescent With Dermatosparaxis-Type Ehlers-Danlos Syndrome: A Case Report.

A 15-year-old female patient presented with recurrent episodes of hematemesis over six months, with no identifiable source on initial evaluations, including upper gastrointestinal (GI) endoscopy and abdominal angiography. Despite a thorough workup for bleeding diatheses, the etiology remained elusiv…

Cardiovascular and Clinical Manifestations of Marfan Syndrome and Other Inherited Connective Tissue Disorders with Coexisting Genetic Variants.

Marfan syndrome (MS), Loeys-Dietz syndrome (LDS), Beals-Hecht syndrome (BHS), Ehlers-Danlos syndrome (EDS), and individuals with undifferentiated connective tissue disease (UCTD) exhibit phenotypic overlap, suggesting a likelihood of genotypic coexistence. Our objective was to evaluate genetic varia…

The Investigation and Management of the Abdominopelvic Vascular Compression Syndromes in Patients with Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder.

Abdominopelvic Vascular Compression Syndrome(s) (VCS) are rare disorders with diverse symptoms that appear to occur more frequently in patients with Ehlers-Danlos Syndrome (EDS) and Hypermobility Spectrum Disorder (HSD). The reported associations between EDS/HSD, Postural Orthostatic Tachycardia Syn…

Cardiovascular manifestations of type IV Ehlers-Danlos syndrome - A case report.

Type IV Ehlers-Danlos syndrome (vascular) is a rare connective tissue disease caused by COL3A1 gene mutation on type III collagen. Clinical presentation is related to vascular fragility and risk of rupture of the arterial wall. Definite diagnosis is given by genetic study and the approach to these p…

Carotid Artery Tortuosity Is Associated with Connective Tissue Diseases.

There is a general assumption in the cerebrovascular literature that there is an association between carotid artery tortuosity and connective tissues disease; however, this has not been firmly established. The purpose of this study was to determine the prevalence of carotid artery tortuosity in pati…

Joint hypermobility and headache: understanding the glue that binds the two together--part 1.

Heritable connective tissue disorders (HCTD) present with a wide array of findings, including headache. Because of their unusual substrate, headaches in HCTD can derive from both common and uncommon circumstances. Literature review. Ehlers-Danlos hypermobile type can be recognized by multiple joint…

Marfan's syndrome and other aortopathies in pregnancy.

Aortopathies, or disease affecting the aorta, are associated with a significant mortality risk for the mother and foetus during pregnancy because of an increased rate of aortic dissection. The hereditary aortopathies; Marfan's syndrome, bicuspid aortic valve, Loeys-Dietz syndrome, Ehlers-Danlos (typ…

[Hemoptysis and Ehlers-Danlos vascular disease].