Emergency operation for thoracic aortic aneurysm caused by the Ehlers-Danlos syndrome

1994 ◽  
Vol 58 (4) ◽  
pp. 1180-1182 ◽  
Author(s):  
Kimikazu Hamano ◽  
Yoshihide Minami ◽  
Yoshihiko Fujimura ◽  
Hidetoshi Tsuboi ◽  
Shouichi Furukawa ◽  
...  
Keyword(s):  
Aortic Aneurysm ◽  
Thoracic Aortic Aneurysm ◽  
Emergency Operation ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

scholarly journals Successful repair of thoracic aortic aneurysm in a child with Ehlers-Danlos syndrome

1997 ◽  
Vol 113 (2) ◽  
pp. 410-411 ◽  
Author(s):  
Stefano Conte ◽  
Alain Serraf ◽  
François Lacour-Gayet ◽  
Jacqueline Bruniaux ◽  
Claude Planché
Keyword(s):  
Aortic Aneurysm ◽  
Thoracic Aortic Aneurysm ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome ◽  
Successful Repair

Abstract 15129: Outcomes Related to Age of Elective Surgery and Age of Dissection Within Genetically Triggered Aneurysm Conditions: The Gentac Experience

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Kathryn W Holmes ◽  
Scott A Lemaire ◽  
Richard B Devereux ◽  
William J Ravekes ◽  
Shaine A Morris ◽  
...  
Keyword(s):  
Aortic Aneurysm ◽  
Thoracic Aortic Aneurysm ◽  
Elective Surgery ◽  
Aortic Surgery ◽  
Reference Population ◽  
Ehlers Danlos Syndrome ◽  
Aortic Replacement ◽  
Fourth Decade ◽  
Ascending Aortic Replacement ◽  
Aortic Dissections

Introduction: The GenTAC Registry ( G enetically Triggered T horacic A ortic Aneurysms and Cardiovascular C onditions) followed patients with aortopathies over 8 years among 8 centers with the goal of evaluating cardiovascular outcomes. Methods: Enrollment initiated in 2007, and data were collected until 2015. We included diagnoses with >100 participants: Bicuspid aortic valve with aneurysm (BAV, n=879), Marfan syndrome (MFS, n=861), Familial thoracic aortic aneurysm or dissection (FTAAD, n=378), Other thoracic aortic aneurysm at < 50 years of age (Other<50, n=524), Turner syndrome (TS, n=298), Vascular Ehlers Danlos syndrome (VEDS, n=149), and Loeys-Dietz syndrome (LDS, n=121). We identified patients who underwent elective ascending aortic replacement, total unique dissections, and time to first dissection. With MFS as a reference population and adjusted for sex, endpoints were analyzed by a Firth penalized Cox-PH regression model to account for diagnosis groups with low event numbers. Results: LDS participants at a mean age of (24.5 ± 15.0y) were youngest at elective aortic surgery followed by MFS (32.3 ±12.3y), TS (37.6 ±13.6y), VEDS (35.0 ±SD 7.4y), Other<50 (40.3 ±SD 10.3y), FTAAD (42.9 ±14.2y), and BAV(49.4 ± 13.8 y). Dissections were reported in all diagnosis groups with a total of 472 unique dissections in 3210 patients (14%). Mean age at first dissection was in the third decade for LDS, TS, MFS, VEDS and in the fourth decade for BAV, FTAD, and Other<50. Adjusted hazard ratio for time to first dissection was higher in LDS, 1.77 (95%CI 1.14- 2.77), compared to MFS and other diagnosis groups (Figure 1). Conclusions: Reported aortic dissections were prominent in the GenTAC cohort. Despite elective surgery at a younger age, LDS patients had a higher hazard risk of dissection compared to other diagnosis groups.

scholarly journals VH01. Open Repair of a Mycotic Aortic Aneurysm in a Patient With Vascular Ehlers-Danlos Syndrome

2019 ◽  
Vol 69 (6) ◽  
pp. e277
Author(s):  
Bernardo C. Mendes ◽  
Gustavo S. Oderich ◽  
Emanuel R. Tenorio ◽  
Jussi M. Karkkainen
Keyword(s):  
Aortic Aneurysm ◽  
Open Repair ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome ◽  
Mycotic Aortic Aneurysm

Isolated Giant Aortic Aneurysm in an Infant: Ehlers-Danlos Syndrome Type IV

2008 ◽  
Vol 86 (2) ◽  
pp. 632-634 ◽  
Author(s):  
Roland Hetzer ◽  
Eva Maria B. Delmo Walter ◽  
Rudolf Meyer ◽  
Vladimir Alexi-Meskishvili
Keyword(s):  
Aortic Aneurysm ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome

scholarly journals The Genetics of Aortopathies in Clinical Cardiology

2017 ◽  
Vol 11 ◽  
pp. 117954681770978 ◽  
Author(s):  
Amit Goyal ◽  
Ali R Keramati ◽  
Matthew J Czarny ◽  
Jon R Resar ◽  
Arya Mani
Keyword(s):  
Thoracic Aortic Aneurysm ◽  
Early Mortality ◽  
Ehlers Danlos Syndrome ◽  
Genetic Causes ◽  
Healthcare Burden ◽  
Clinical Cardiology ◽  
Aortic Aneurysm And Dissection ◽  
Molecular Pathophysiology ◽  
Danlos Syndrome ◽  
Generation Sequencing

Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets. This review will summarize the pathogenetic mechanisms and management of heritable genetic aortopathies with attention to specific forms of both syndromic and nonsyndromic disorders, including Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, and familial thoracic aortic aneurysm and dissection.

Cardiogenetics: genetic testing in the diagnosis and management of patients with aortic disease

Heart ◽  
2020 ◽  
pp. heartjnl-2020-317036
Author(s):  
Prashanth D Thakker ◽  
Alan C Braverman
Keyword(s):  
Genetic Testing ◽  
Aortic Aneurysm ◽  
Aortic Dissection ◽  
Transforming Growth Factor Beta ◽  
Thoracic Aortic Aneurysm ◽  
Transforming Growth Factor ◽  
Contractile Function ◽  
Ehlers Danlos Syndrome ◽  
Imaging Characteristics ◽  
Increased Risk

Thoracic aortic aneurysm and aortic dissection have a potent genetic underpinning with 20% of individuals having an affected relative. Heritable thoracic aortic diseases (HTAD) may be classified as syndromic (including Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome and others) or non-syndromic (without recognisable phenotypes) and relate to pathogenic variants in multiple genes affecting extracellular matrix proteins, transforming growth factor-beta (TGF-β) signalling and smooth muscle contractile function. Clinical and imaging characteristics may heighten likelihood of an underlying HTAD. HTAD should be investigated in individuals with thoracic aortic aneurysm or aortic dissection, especially when occurring in younger individuals, in those with phenotypic features and in those with a family history of aneurysm disease. Screening family members for aneurysm disease is important. Consultation with a medical geneticist and genetic testing of individuals at increased risk for HTAD is recommended. Medical management and prophylactic aortic surgical thresholds are informed by an accurate clinical and molecular diagnosis.

scholarly journals 42. Large vessel vasculitis with rapidly expanding aortic aneurysm

2019 ◽  
Vol 3 (Supplement_1) ◽  
Author(s):  
Malinder Kaur Baldeve Singh ◽  
Barbara Hauser
Keyword(s):  
Chest Pain ◽  
Side Effects ◽  
Aortic Aneurysm ◽  
Inflammatory Markers ◽  
Oral Prednisolone ◽  
Large Vessel Vasculitis ◽  
Large Vessel ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome ◽  
Steroid Sparing

Abstract Introduction This case report describes the delay in diagnosis and potentially life-threatening complications of a patient with large vessel vasculitis. The initial diagnosis was of vascular Ehlers-Danlos Syndrome, based on family history and imaging. However, recurrent episodes of chest pain and a rapidly expanding aortic aneurysm prompted further diagnostics which led to the diagnosis of giant cell arteritis with large vessel vasculitis. The patient required thoracic surgery due to expansion of the aortic aneurysm. This case demonstrates the risk of delaying the diagnosis of large vessel vasculitis and the complexities of immunosuppression in the context of major surgery. Case description A previously fit and well 69-year-old man presented with constitutional symptoms and intermittent chest pain for six months. Two months after symptom onset, he was admitted with chest tightness and shortness of breath. He had raised inflammatory markers with thrombocytosis and was given antibiotics for a probable chest infection. A CT pulmonary angiogram revealed ascending aorta dilatation, 47mm with wall thickening. The radiologist reported this as being most likely due to systemic hypertension. There was no evidence of malignancy on abdominal and pelvic imaging. The aortic changes were attributed to possible underlying Ehlers-Danlos syndrome, as his daughter had a diagnosis of Ehlers-Danlos Type III. He was discharged despite persistently raised inflammatory markers and no positive microbiology. He was readmitted after six weeks with pyrexia and severe chest pain. A CT of his thoracic aorta showed further expansion of the aortic aneurysm, 59mm with a slightly thickened abdominal aorta wall. With a rapidly expanding aortic aneurysm and persistent raised inflammatory markers, the suspicion of large vessel vasculitis was raised. No symptoms of cranial temporal arteritis or polymyalgia rheumatica. A FDG-PET scan showed high uptake in the ascending, thoracic and upper abdominal aorta in keeping with extra-cranial large vessel vasculitis. He was treated with IV methylprednisolone for three days with subsequent oral prednisolone. Whilst on high dose glucocorticoids, he developed steroid induced diabetes and hypomania hence oral methotrexate 15 mg once weekly was added. The cardiothoracic team elected to delay cardiothoracic surgery until he was on less than 15 mg of oral prednisolone daily. However, reduction of oral prednisolone led to a flare of giant cell arteritis. The patient had to undergo elective aortic valve and ascending aorta replacement whilst on 40 mg of prednisolone. Tocilizumab was added two months after surgery and prednisolone was successfully reduced to 3mg. Discussion Critically, appropriate treatment was delayed due to misdiagnosis of Ehlers-Danlos Syndrome; this was largely based on the family history. This red herring likely distracted clinicians from seeking a better explanation for the patient’s presentation and aortic changes. The initial oral steroid course was complicated by steroid induced complications and pending cardiothoracic surgery. The surgical team planned to delay surgery until the patient is on a lower prednisolone dose, due to the increased risk of infection and poor wound healing. The patient therefore had a rapid steroid tapering regime, reducing by 5mg two-weekly, from a starting oral dose of 65mg. Such rapid steroid tapering carries a risk of disease flare, and in fact two weeks prior to surgery, his inflammatory markers rose, and his prednisolone dose had to be increased from 25mg to 40mg. A collaborative decision between the rheumatologists and surgeons was then made to proceed with surgery despite the high-dose steroids, as simultaneous inflammation control and prompt surgical repair took precedence over the potentially increased post-operative risks. The patient also experienced steroid-related side-effects, but the switch to steroid-sparing agents was challenging. Starting tocilizumab as a further immunosuppressant had to be delayed until after surgery, as IL-6 inhibition would distort C-reactive protein as a measure of both disease activity and potential post-operative infection. In summary, this case highlights the difficulty in diagnosing large vessel vasculitis and the potential delay in treatment can cause significant morbidity and mortality. Appropriate imaging is crucial to ascertain a diagnosis of large vessel vasculitis. Immunosuppression must be tailored individually, accounting for side-effects and competing risks. Points for discussion include the use of newer imaging modalities in diagnosing large vessel vasculitis and monitoring disease activity. The efficacy and safety of tocilizumab as a steroid-sparing agent for this condition should also be investigated. Key learning points The importance of early diagnosis and treatment in patients with large vessel vasculitis, as vascular complications can arise if treatment is delayed. The use of appropriate imaging modalities such as MR angiogram and FDG-PET is crucial for diagnosis of large vessel vasculitis. Glucocorticoid therapy is the mainstay treatment for large vessel vasculitis, but side-effects can be limiting. Steroid sparing agents, such as IL-6 inhibitors should be considered early as an alternative immunosuppressant for patients with large vessel vasculitis. Careful planning of immunosuppression is required prior to major surgery. Conflicts of interest The authors have declared no conflicts of interest.

Endovascular Repair of Postdissection Thoracoabdominal Aortic Aneurysm in Patients With Vascular Ehlers-Danlos Syndrome

2021 ◽  
pp. 152660282110250
Author(s):  
Ahmed Eleshra ◽  
Giuseppe Panuccio ◽  
Konstantinos Spanos ◽  
Fiona Rohlffs ◽  
Yskertvon Kodolitsch ◽  
...  
Keyword(s):  
Aortic Aneurysm ◽  
Male Patient ◽  
Endovascular Repair ◽  
Case Reports ◽  
False Lumen ◽  
Thoracoabdominal Aortic Aneurysm ◽  
Acute Type ◽  
Ehlers Danlos Syndrome ◽  
History Of ◽  
Danlos Syndrome

Purpose To report endovascular repair of postdissection thoracoabdominal aortic aneurysm (TAAA) in 2 patients with vascular Ehlers-Danlos syndrome (vEDS). Case Reports Case 1. A 56-year-old vEDS male patient with a 50-mm type III TAAA [history of aortic root repair, hemiarch replacement, and thoracic endovascular aortic repair (TEVAR) for acute type A aortic dissection (TAAD) 7 years ago] was treated by a 2-stage procedure; first, cervical debranching of the left subclavian artery and second TEVAR and t-branch. The postoperative course was uneventful. Follow-up computed tomography angiography (CTA) 3.5 years postoperatively demonstrated aortic remodeling with patency of targeted visceral vessels and no endoleak. Case 2. A 47-year-old vEDS male patient presented with a TAAA (diameter of 67 mm). The patient had a history of aortic valve and arch replacement with elephant trunk for acute TAAD, and consequently a TEVAR and candy-plug procedure after a ruptured false lumen (FL) aneurysm of the descending thoracic aorta. He also had a surgical repair by an aorto-bi-iliac graft. Two years later, CTA demonstrated aneurysmal FL dilatation distally to the candy-plug and he was treated with fenestrated EVAR (F-EVAR). Conclusion Endovascular repair of postdissection TAAA was feasible and safe with good short-term outcome in 2 patients with vEDS.

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