Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant

ConclusionIn conclusion,FBN1 variant c.1453C>T, p.(Arg485Cys) is a pathogenic variant that can cause autosomal dominant Marfan syndrome characterized by a high degree of clinical variability and apparently isolated early onset familial abdominal aortic aneurysms.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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PMID: 31260381 [PubMed - as supplied by publisher]
Source: Vascular - Category: Surgery Authors: Tags: Vascular Source Type: research
Abstract Current management of aortic aneurysms relies exclusively on prophylactic operative repair of larger aneurysms. Great potential exists for successful medical therapy that halts or reduces aneurysm progression and hence alleviates or postpones the need for surgical repair. Preclinical studies in the context of abdominal aortic aneurysm identified hundreds of candidate strategies for stabilization, and data from preoperative clinical intervention studies show that interventions in the pathways of the activated inflammatory and proteolytic cascades in enlarging abdominal aortic aneurysm are feasible. Similar...
Source: Circulation Research - Category: Cardiology Authors: Tags: Circ Res Source Type: research
We present a case of successfully treated abdominal aortic aneurysm in a 24-year-old patient with Marfan syndrome. After initial physical and ultrasound examination, the multislice computed tomography (MSCT) scan revealed infrarenal aortic aneurysm of 6  cm in diameter, 10 cm long, along with slightly dilated iliac arteries. However, dimensions of aortic root, aortic arch, and descending suprarenal aorta were within normal limits. Further on, because the patient presented with signs of impending rupture, an urgent surgical intervention was perfor med.
Source: Annals of Vascular Surgery - Category: Surgery Authors: Tags: Case Report Source Type: research
Rationale: Abdominal aortic aneurysm is one of the most common aneurisms. Patients presenting with secondary back pain should be given prompt medical attention. Herein, a rare case of a giant abdominal aortic aneurysm that was successfully treated with surgery is described. Patient concerns: A 33-year-old Chinese male suffered from Marfan syndrome combined with giant abdominal aortic aneurysm, and presented with back pain, fever, nausea, vomiting, abdominal distention, and constipation. After undergoing numerous tests, the patient underwent an abdominal aortic aneurysm resection coupled with artificial graft bypass. T...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
CONCLUSIONS: AD is an emergency in which diagnosis and timely management are essential to improve prognosis. In the sample presented here, a significant association was found in patients with a history of Marfan syndrome and abdominal aneurysms with dissections according to the Stanford classification. The rest of the independent variables did not show any significant association, probably related to the size of the sample. PMID: 30017466 [PubMed - as supplied by publisher]
Source: Archivos de Cardiologia de Mexico - Category: Cardiology Authors: Tags: Arch Cardiol Mex Source Type: research
Conclusions: In patients with aortic diseases, special attention must be paid to the state of personal resources (PR). Interactions made by medical professionals should focus on enhancing PR supporting the patients' self-knowledge on their SE. This will help to improve their satisfaction with life and form a positive attitude to the illness. PMID: 29681958 [PubMed]
Source: Polish Journal of Cardio-Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Tags: Kardiochir Torakochirurgia Pol Source Type: research
We present a case with a young non-smoking and normotensive male with Marfan syndrome, who developed an infrarenal abdominal aortic aneurysm that presented with rupture to the retroperitoneal cavity causing life-threatening bleeding shock. The patient had acute aortic surgery and survived. Five months before this incident, the patient had uneventful elective aortic root replacement (a.m David) due to an enlarged aortic root. At that time, his abdominal aorta was assessed with a routine ultrasound scan that showed a normal sized abdominal aorta.
Source: Annals of Vascular Surgery - Category: Surgery Authors: Source Type: research
We present a case with a young nonsmoking and normotensive male with Marfan syndrome, who developed an infrarenal AAA that presented with rupture to the retroperitoneal cavity causing life-threatening bleeding shock. The patient had acute aortic surgery and survived. Five months before this incident, the patient had uneventful elective aortic root replacement (ad modum David) due to an enlarged aortic root. At that time, his abdominal aorta was assessed with a routine ultrasound scan that showed a normal-sized abdominal aorta.
Source: Annals of Vascular Surgery - Category: Surgery Authors: Tags: Case Report Source Type: research
The objective of our study was to evaluate the effect of the neutralization of TGFβ in a murine model of AAA induced by elastase.
Source: Annals of Vascular Surgery - Category: Surgery Authors: Tags: Abstracts Presented to the French Vascular Surgery Society Source Type: research
ConclusionTo the best of our knowledge, this is the first case of true abdominal aortic aneurysm repair and Caesarean section as a one-stage procedure.
Source: European Surgery - Category: Surgery Source Type: research
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