Cardiovascular complications in vascular connective tissue disorders after COVID-19 infection and vaccination.

Background: COVID-19 infection and vaccination have been reported to confer an elevated risk for cardiovascular events (CVE). We sought to determine whether individuals with an underlying vascular connective tissue disorder including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), or vascular Ehlers Danlos syndrome (vEDS) are at increased risk for cardiac events after COVID-19 infection or vaccination.

Methods: 325 respondents self-reported data through a cross-sectional, web-based survey available from 22 November 2021, through 15 March 2022 regarding COVID-19 illness and vaccinations, the occurrence of any CVE, and adverse events following vaccination.

Comprehensive Genetic Testing for Coexisting Marfan and Loeys-Dietz Syndromes in Hereditary Thoracic Aortic Disease.

Hereditary thoracic aortic disease (HTAD) is a rare heritable condition with several subtypes, including Marfan syndrome (MFS), vascular Ehlers-Danlos syndrome, and Loeys-Dietz syndrome (LDS). Although MFS is the most common type of HTAD caused by mutations in , differentiation from other conditions such as LDS is crucial due to the varying clinical courses. We report the case of a family history of early-onset ascending aortic dissection initially diagnosed as MFS based on a pathogenic variant of .

Surgical Repair of a Giant Inferior Vena Cava Aneurysm Associated with a Congenital Vascular Anomaly: A Case Report.

Inferior vena cava aneurysms (IVCAs) are rare yet potentially lethal, especially if they are symptomatic or complicated. Among the IVCAs reported in the literature, only a few are associated with congenital vascular anomalies, including congenital IVC obstruction, tetralogy of Fallot, left-sided IVC, duplicated IVC, Ehlers-Danlos syndrome, blue rubber bleb nevus syndrome, and Klipper-Trenaunay syndrome. We present the case of an 8-cm symptomatic saccular IVCA in a patient with tetralogy of Fallot, treated successfully with surgical repair.

Self-Perception of Physical Problems in Patients with Non-Vascular Type of Ehlers-Danlos Syndrome: A Qualitative Study.

Background/objectives: Ehlers-Danlos syndrome is a group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Ehlers-Danlos syndrome is associated with a broad spectrum of clinical manifestations, including chronic pain, severe fatigue, and a range of physical and psychological complications. This study aims to identify, in patients with non-vascular type of Ehlers-Danlos syndrome, the most common physical symptoms, the impact of these symptoms on daily life, and individuals' perceptions of their health.

Management of spontaneous liver hemorrhage in vascular Ehlers Danlos syndrome: A case report.

Introduction: Vascular Ehlers Danlos syndrome (vEDS) is a heritable connective tissue disorder characterized by vascular, solid organ, and hollow viscus fragility. Herein we report a patient with vEDS who presented with a large spontaneous subcapsular liver hemorrhage. This case highlights the challenges associated with managing vEDS patients and discusses approaches to optimize their care.

Similarities and differences in self-reported symptoms and comorbidities between hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

Objectives: Patients with hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) experience a wide array of symptoms and system disorders. This study aimed to identify whether differences occurred in 115 self-reported symptoms and comorbidities in patients diagnosed with hEDS or HSD.

Methods: In this study we analysed self-reported data from an EDS Clinic intake questionnaire in patients diagnosed with hEDS, HSD or no hypermobile conditions.

Ehlers-Danlos syndromes and related disorders: diagnostic challenges and the need for an interdisciplinary patient care in Germany.

Unlabelled: (215 words): Introduction: Ehlers-Danlos syndromes (EDS) represent a group of heritable connective tissue disorders characterised by skin hyperelasticity, joint hypermobility and generalized tissue fragility. Many patients remain undiagnosed years after initial symptoms and an accurate diagnosis is difficult despite all efforts. Currently, Germany lacks a patient registry and a specialised EDS centre.

Coexistence of Vascular Ehlers-Danlos Syndrome and Sticky Platelet Syndrome: A Lethal Combination in A Young Patient with Thrombophilia and Haemorrhagic Diathesis.

Background: The coexistence of hypercoagulability and bleeding diathesis in the same patient represents a potentially lethal combination due to its complex management. Vascular Ehlers-Danlos syndrome (vEDS) and sticky platelet syndrome (SPS) are classified as rare diseases due to their low prevalence. vEDS is associated with bleeding tendencies caused by vascular wall fragility, while SPS is characterized by atypical arterial and venous thrombosis.

Dermatologic, Orthopedic, and Cardiovascular Manifestations and Management in a Geriatric Patient With Dermatosparaxis-Type Ehlers-Danlos Syndrome: A Case Report.

Ehlers-Danlos syndrome (EDS) is a diverse group of hereditary connective tissue disorders resulting from mutations in genes involved in the synthesis and metabolism of collagens. Collagen, a structural protein in the connective tissues, plays an important role in maintaining the integrity and strength of various tissues, including the skin, ligaments, tendons, cartilage, and blood vessels. As such, EDS is characterized by joint hypermobility, skin elasticity, and tissue fragility.

Halo traction evaluation of craniocervical instability in hereditary connective tissue disorder patients: Case series.

Introduction: Craniocervical instability (CCI) is a condition commonly found in patients with connective tissue disorders such as Ehlers-Danlos Syndrome (EDS), leading to various symptoms. Assessing patients for surgical fusion as a treatment for CCI is challenging due to the complex nature of EDS-related symptoms. This study aimed to evaluate the role of pre-fusion halo-vest traction in alleviating symptoms and determining suitable candidates for fusion surgeries.

The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series.

Dermatosparaxis Ehlers Danlos syndrome (dEDS) is a very rare monogenic EDS that occurs due to biallelic pathogenic variants in ADAMTS2. Fifteen individuals with dEDS have been reported in the literature, with the oldest being 19 years at follow-up. Given the lack of information regarding adults with dEDS, our aim was to describe adults with dEDS to inform management recommendations in adulthood.

A Case of Spontaneous Carotid-cavernous Fistula in a Patient with Vascular Ehlers-Danlos Syndrome.

Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder that is characterized by vascular lesions mainly caused by vascular fragility, such as spontaneous carotid-cavernous fistula (sCCF). We experienced a patient who presented with sCCF but suffered postoperative multiple vascular arteriopathy complications caused by undiagnosed vEDS. A 39-year-old woman who had no physical and medical characteristics indicating vEDS was referred to our hospital due to sudden onset of headache and pulsatile tinnitus.

Shprintzen - Goldberg syndrome without intellectual disability: A clinical report and review of literature.

Shprintzen-Goldberg syndrome is a rare systemic connective tissue disorder caused by heterozygous mutations in the Sloan-Kettering Institute (SKI) gene. The clinical presentation is reminiscent of Marfan and Loeys-Dietz syndromes, making differential diagnosis challenging. Shprintzen-Goldberg syndrome's distinctive features are craniosynostosis and learning disabilities.

Spontaneous sigmoid perforation and subsequent ruptured hepatic aneurysms in suspected vascular type Ehlers-Danlos syndrome: a case report and comprehensive literature review.

Ehlers-Danlos syndrome (EDS) is an inherited disorder of collagen creation and function which can affect many organs. Surgical management of EDS spectrum remains a significant challenge for surgeons, including the vascular type of EDS (vEDS). There do not exist specific guidelines for the management of vEDS, which proves difficulty given the devastating pathology and potential outcomes.

Headache disorders in patients with Ehlers-Danlos syndromes and hypermobility spectrum disorders.

Extra-articular symptoms, including headaches, are frequently encountered in patients with Ehlers-Danlos syndrome (EDS) and hypermobility spectrum disorders (HSD), and may be the presenting complaint. Migraine is reported in up to three quarters of patients with symptomatic joint hypermobility, have a higher headache frequency, and an earlier age of onset compared to the general population. Orthostatic headache is an important presentation, and should raise suspicion of an underlying spinal cerebrospinal fluid leak, dysautonomia, and craniocervical pathology, which are all associated with heritable connective tissue disorders (HCTD) including EDS.

Recurrent adnexal torsion in a teenager with hypermobile Ehlers-Danlos syndrome: A case report.

Hypermobile Ehlers-Danlos syndrome (hEDS) is the most common type of EDS, characterized by joint hypermobility, frequent dislocations, and chronic pain. Genetic markers are not typically used in diagnosis. A 17-year-old clinically diagnosed with hEDS presented with recurrent lower abdominal pain, later attributed to intermittent partial adnexal torsion.

Hypermobile Ehlers Danlos for the Primary Care Provider.

Joint hypermobility is very common in the general population as is arthralgia. Increased awareness of hypermobility and hypermobile Ehlers Danlos Syndrome (hEDS) among patients and providers has led to a surge in demand for evaluation. Many patients with hypermobility meet clinical criteria for a diagnosis of hypermobile spectrum disorder (HSD) or hEDS, but monogenic connective tissue diseases (CTD) are rare.

A machine learning approach to stratify patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders according to disorders of gut brain interaction, comorbidities and quality of life.

Background: A high prevalence of disorders of gut-brain interaction (DGBI) exist in patients with hypermobile Ehlers-Danlos Syndrome (hEDS) and hypermobility spectrum disorders (HSD). However, it is unknown if clusters of hEDS/HSD patients exist which overlap with different DGBIs and whether this overlap influences presence of comorbidities and quality of life. We aimed to study these knowledge gaps.

Hippotherapy in the management of hypermobile Ehlers-Danlos syndrome.

Hypermobile Ehlers-Danlos syndrome (EDS) is an inherited condition marked by joint hypermobility, instability, chronic pain and fatigue, significantly impacting quality of life and autonomy. Management focuses solely on symptom alleviation. After experiencing a rapid decline in functional abilities, a patient in late adolescence with hypermobile EDS underwent hippotherapy rehabilitation (30 hours).