scholarly journals Increased augmentation index in patients with Ehlers-Danlos syndrome

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Maurice Roeder ◽  
Sira Thiel ◽  
Frederic Baumann ◽  
Noriane A. Sievi ◽  
Marianne Rohrbach ◽  
...  
Keyword(s):  
Arterial Stiffness ◽  
Augmentation Index ◽  
Positive Association ◽  
Joint Hypermobility ◽  
Applanation Tonometry ◽  
Classical Type ◽  
Healthy Controls ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
Danlos Syndrome

Abstract Background Ehlers-Danlos Syndrome (EDS) comprises a heterogeneous group of diseases characterized by joint hypermobility, connective tissue friability, and vascular fragility. Reliable prognostic factors predicting vascular disease progression (e.g. arterial aneurysms, dissections, and ruptures) in EDS patients are still missing. Recently, applanation tonometry derived augmentation index (AIx), an indirect marker of arterial stiffness, has shown to be positively associated with progression of aortic disease in Marfan syndrome. In this study, we assessed aortic AIx in patients with EDS and matched healthy controls. Methods We performed noninvasive applanation tonometry in 61 adults with EDS (43 women and 18 men aged 39.3 ± 14.6 years) and 61 age-, gender-, height-, and weight-matched healthy controls. Radial artery pulse waveforms were recorded and analyzed using the SphygmoCor System (AtCor Medical, Sydney, NSW, Australia). Calculated AIx was adjusted to a heart rate of 75/min. Groups were compared and association between AIx and EDS was determined by univariate and multivariate regression analysis. Results EDS patients were categorized in classical type EDS (34%), hypermobile type EDS (43%), vascular type EDS (5%), or remained unassignable (18%) due to overlapping features. EDS patients showed a significantly increased aortic AIx compared to healthy controls (22.8% ± 10.1 vs 14.8% ± 14.0, p < 0.001). EDS showed a positive association with AIx; independent of age, sex, height, blood pressure, medication, and pack years of smoking. Conclusions Patients with EDS showed elevated AIx, indicating increased arterial stiffness when compared to healthy controls. Further investigations are needed in order to assess the prognostic value of increased AIx for cardiovascular outcomes in patients with EDS.

A Critical Analysis of the Perioperative Management of Patients with Ehlers Danlos Type IV (Vascular) Syndrome

2017 ◽  
Vol 27 (9) ◽  
pp. 196-199
Author(s):  
J Martin
Keyword(s):  
Perioperative Management ◽  
Emergency Situation ◽  
Joint Hypermobility ◽  
Connective Tissue Disorders ◽  
Care Needs ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Vascular Type ◽  
Theatre Staff ◽  
Danlos Syndrome

This paper discusses the perioperative care needs of patients with Ehlers Danlos type IV (vascular) syndrome. Ehlers Danlos syndrome (EDS) is a heritable group of connective tissue disorders characterised by varying degrees of tissue, blood vessel and internal organ fragility as well as skin and joint hypermobility (De Paepe & Malfait 2012). In 1997 EDS was revised and classified into six subtypes: classical (Types I and II), hypermobility, vascular (Type IV), kyphoscoliosis and arthrochalasia type. Each classification has been based on the following aspects: diagnostic uniformity, natural history, management, genetics, and the identification of potential areas for research (Beighton et al 1998). Vascular type EDS has serious implications for any form of surgical procedure and it is therefore imperative that theatre staff are fully conversant with the needs of this patient group. Overall awareness needs to be increased, particularly as most patients will most frequently be seen in an emergency situation, as elective procedures are avoided as far as possible.

Applanation Tonometry for Assessment of Left Ventricular Systolic Load

2019 ◽  
Vol 12 (2) ◽  
pp. 94-99
Author(s):  
Rene D. Mileva-Popova ◽  
Nina Y. Belova
Keyword(s):  
Arterial Stiffness ◽  
Augmentation Index ◽  
Age Groups ◽  
Systolic Pressure ◽  
Left Ventricular ◽  
Applanation Tonometry ◽  
Non Invasive ◽  
Pressure Area ◽  
Older Subjects ◽  
And Gender

Summary Vascular-ventricular coupling is a major determinant of left ventricular load. The aim of our study was to assess non- invasively left ventricular load and its dependency on central hemodynamics. Sixty-five healthy and gender-matched individuals were divided in two groups according to their age: 20y/o and 50y/o. Applanation tonometry was performed using the Sphygmocor device. Central pressures and pulse wave analysis indices were computed. Central systolic (120±3 vs. 98±2 mm Hg) and pulse pressures (43±3 vs. 29±1 mm Hg) as well as the augmentation index (AIx75) (23±3 vs. 6±2%) were significantly higher in the 50y/o group (p<0.01). These parameters are relevant markers of arterial stiffness and evidenced the development of central arterial morphological and functional alterations in the older subjects. The time-tension index (TTI) computed from the systolic pressure area was significantly higher in the 50y/o subjects as compared to the 20y/o group (2378±66 vs. 1954±73 mmHg×s, p<0.01). Moreover, we have shown the presence of significant correlation between TTI and AIx75 (p<0.01) in both age groups. This finding confirmed the contribution of arterial stiffness for the impaired vascular-ventricular coupling. In conclusion, applanation tonometry might be utilized for non-invasive evaluation of the left ventricular load, which is an important parameter of cardiovascular risk.

scholarly journals Spontaneous Dissection of the Renal Artery in Vascular Ehlers-Danlos Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Filipa Pereira ◽  
Teresa Cardoso ◽  
Paula Sá
Keyword(s):  
Renal Artery ◽  
Cardiopulmonary Arrest ◽  
Fatal Outcome ◽  
Vascular Complication ◽  
Autosomal Dominant Disorder ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
Recent Diagnosis ◽  
The Right ◽  
Danlos Syndrome

Ehlers-Danlos syndrome(EDS) is a rare heterogeneous group of connective tissue disorders. The vascular type (vEDS) is an autosomal dominant disorder caused by heterozygous mutations in theCOL3A1gene predisposing to premature arterial, intestinal, or uterine rupture. We report a case of a 38-year-old woman with a recent diagnosis of vEDS admitted in the Emergency Department with a suspicion of a pyelonephritis that evolved to a cardiopulmonary arrest. A fatal retroperitoneal hematoma related with a haemorrhagic dissection of the right renal artery was found after emergency surgery. This case highlights the need to be aware of the particular characteristics of vEDS, such as a severe vascular complication that can lead to a fatal outcome.

Vascular Ehlers-Danlos syndrome presenting in the ICU as aneurysmal subarachnoid haemorrhage

2021 ◽  
Vol 14 (7) ◽  
pp. e243132
Author(s):  
Inês Pimenta ◽  
Rita Varudo ◽  
Filipa Castelao ◽  
Filipe André Gonzalez
Keyword(s):  
Subarachnoid Haemorrhage ◽  
Medical History ◽  
Type Iii Collagen ◽  
Aneurysmal Subarachnoid Haemorrhage ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
Gene Coding ◽  
Col3a1 Gene ◽  
Life Threatening ◽  
Danlos Syndrome

Vascular Ehlers-Danlos syndrome is caused by mutations of COL3A1 gene coding for type III collagen. The main clinical features involve a propensity to arterial tears leading to several life-threatening conditions and intensive care unit admission. We, herein, report the case of a 34-year-old woman presenting with an aneurysmal subarachnoid haemorrhage. Endovascular coil treatment was attempted; however, the procedure was complicated by dissection of the left iliac artery and abdominal aorta. Hospital management was marked by a series of vascular and haemorrhagic complications. These events, together with some distinctive physical features and medical history, raised the suspicion of vascular type of Ehlers-Danlos syndrome. Neurological evolution was not favourable, and the patient evolved to brain death. Genetic testing was available postmortem and identified a mutation in the COL3A1 gene. This case illustrates the importance of medical history and clinical suspicion for diagnosis, which often goes unnoticed until major complications occur.

Early and Late Outcomes of Cardiovascular Surgery in Patients With Ehlers-Danlos Syndrome

2021 ◽  
Vol 12 (6) ◽  
pp. 773-777
Author(s):  
Mohamed F. Elsisy ◽  
Alberto Pochettino ◽  
Joseph A. Dearani ◽  
Thomas C. Bower ◽  
Robert D. McBane ◽  
...  
Keyword(s):  
Surgical Outcomes ◽  
Time Frame ◽  
Ehlers Danlos Syndrome ◽  
Vital Status ◽  
Type Iv ◽  
Vascular Type ◽  
Baseline Characteristics ◽  
Danlos Syndrome ◽  
Adult Cardiac Surgery

Background Cardiovascular surgical outcomes reports are few for vascular type IV of Ehlers- Danlos Syndrome (vEDS) compared to non-vascular types I-III (nEDS). Methods To define cardiovascular surgical outcomes among adult patients (≥18 years) with EDS types, a review of our institution's in-house STS Adult Cardiac Surgery Database-compliant software and electronic medical records from Mayo Clinic (1993–2019) was performed. Outcomes were compared for vEDS patients and nEDS patients. Demographics, baseline characteristics, operative, in-hospital complications and follow-up vital status were analyzed. Results Over the study time frame, 48 EDS patients underwent surgery (mean age 52.6 ± 14.6 years; 48% females). Of these, 17 patients had vEDS and 31 patients had nEDS. Six patients (12.5%) underwent prior sternotomy. Urgent or emergent surgery was performed in 10 patients (20.8%). Aortic (vEDS 76.5% vs. nEDS 16.1%) and mitral procedures (vEDS 11.8% vs. nEDS 48.4%) were the two most common cardiovascular surgeries performed (p < .01 and p = .007, respectively). Cardiopulmonary bypass time (CPB) (165 ± 18 vs. 90 ± 13 min; p = .015) and aortic cross clamp times (140 ± 14 vs. 62 ± 10 min; p < .001) were longer for vEDS patients. There was 1 (2.1%) early and 7 (14.6%) late deaths; 6 among vEDS and 2 among nEDS patients. Survival at 5 (80% vs. 93%), 10 (45% vs. 84%) and 15 years (45% vs. 84%) was lower in patients with vEDS (p = .015 for each comparison). Conclusion Cardiovascular surgeries are significantly more complex with longer bypass and cross clamp times for type IV vEDS compared to nEDS patients. Reduced overall survival underscores the complexity and fragility of vEDS patients.

scholarly journals The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Xiaolin Ni ◽  
Chenxi Jin ◽  
Yan Jiang ◽  
Ou Wang ◽  
Mei Li ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Clinical Manifestations ◽  
Joint Hypermobility ◽  
Minor Trauma ◽  
X Rays ◽  
Ehlers Danlos Syndrome ◽  
Chinese Origin ◽  
First Case ◽  
Blue Sclerae ◽  
Danlos Syndrome

Abstract Background Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and severe skin hyperextensibility and fragility. Deficiency of lysyl hydroxylase 1 (LH1) due to mutations of PLOD1 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1) gene has been identified as the pathogenic cause of kEDS (kEDS-PLOD1). Up to now, kEDS-PLOD1 has not been reported among Chinese population. Case presentation A 17-year-old Chinese male patient presenting with hypotonia, joint hypermobility and scoliosis was referred to our hospital. After birth, he was found to have severe hypotonia leading to delayed motor development. Subsequently, joint hypermobility, kyphoscoliosis and amblyopia were found. Inguinal hernia was found at age 5 years and closed by surgery. At the same time, he presented with hyperextensible and bruisable velvety skin with widened atrophic scarring after minor trauma. Dislocation of elbow joint was noted at age of 6 years. Orthopedic surgery for correction of kyphoscoliosis was performed at age 10 years. His family history was unremarkable. Physical examination revealed elevated blood pressure. Slight facial dysmorphologies including high palate, epicanthal folds, and down-slanting palpebral fissures were found. He also had blue sclerae with normal hearing. X-rays revealed severe degree of scoliosis and osteopenia. The Echocardiography findings were normal. Laboratory examination revealed a slightly elevated bone turnover. Based on the clinical manifestations presented by our patient, kEDS was suspected. Genetic analysis revealed a novel homozygous missense mutation of PLOD1 (c.1697 G > A, p.C566Y), confirming the diagnosis of kEDS-PLOD1. The patient was treated with alfacalcidol and nifedipine. Improved physical strength and normal blood pressure were reported after 12-month follow-up. Conclusions This is the first case of kEDS-PLOD1 of Chinese origin. We identified one novel mutation of PLOD1, extending the mutation spectrum of PLOD1. Diagnosis of kEDS-PLOD1 should be considered in patients with congenital hypotonia, progressive kyphoscoliosis, joint hypermobility, and skin hyperextensibility and confirmed by mutation analysis of PLOD1.

scholarly journals Ehlers-Danlos syndrome presenting with primary nocturnal enuresis

2020 ◽  
Vol 13 (2) ◽  
pp. e231977
Author(s):  
Margarida Cunha ◽  
Mafalda Matias ◽  
Inês Marques
Keyword(s):  
Genetic Testing ◽  
Nocturnal Enuresis ◽  
Bladder Dysfunction ◽  
Connective Tissue Disorder ◽  
Joint Hypermobility ◽  
Urinary Urgency ◽  
Beighton Score ◽  
Ehlers Danlos Syndrome ◽  
Primary Nocturnal Enuresis ◽  
Danlos Syndrome

Ehlers-Danlos syndrome (EDS), hypermobility type, is probably the most common EDS type, as well as the most common heritable connective tissue disorder. Bladder dysfunction is a rare clinical manifestation of EDS and manifests itself as primary nocturnal enuresis. We present a 10-year-old boy referred to the paediatrics nephrology consultation due to primary nocturnal enuresis and day time symptoms of urinary urgency. During the appointment, a tendency to joint hypermobility was noted. On evaluation the skin was hyperextensible and the Beighton score was positive. The genetic testing revealed a variant of the COL5A1 gene not yet described in the literature.

Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers‐Danlos syndrome from benign joint hypermobility syndrome in patients

2014 ◽  
Vol 28 (11) ◽  
pp. 4668-4676 ◽  
Author(s):  
Rie Harboe Nielsen ◽  
Christian Couppé ◽  
Jacob Kildevang Jensen ◽  
Morten Raun Olsen ◽  
Katja Maria Heinemeier ◽  
...  
Keyword(s):  
Joint Hypermobility ◽  
Hypermobility Syndrome ◽  
Joint Hypermobility Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Tendon Stiffness ◽  
Benign Joint Hypermobility Syndrome ◽  
Danlos Syndrome
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