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.
PMID: 31260381 [PubMed - as supplied by publisher]
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...
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.
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...
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]
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]
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.
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.
The objective of our study was to evaluate the effect of the neutralization of TGFβ in a murine model of AAA induced by elastase.
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.