scholarly journals A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection

2016 ◽  
Vol 2016 ◽  
pp. 1-10 ◽  
Author(s):  
Betti Giusti ◽  
Stefano Nistri ◽  
Elena Sticchi ◽  
Rosina De Cario ◽  
Rosanna Abbate ◽  
...  

Thoracic aortic aneurysm/dissection (TAAD) is a potential lethal condition with a rising incidence. This condition may occur sporadically; nevertheless, it displays familial clustering in >20% of the cases. Family history confers a six- to twentyfold increased risk of TAAD and has to be considered in the identification and evaluation of patients needing an adequate clinical follow-up. Familial TAAD recognizes a number of potential etiologies with a significant genetic heterogeneity, in either syndromic or nonsyndromic forms of the manifestation. The clinical impact and the management of patients with TAAD differ according to the syndromic and nonsyndromic forms of the manifestation. The clinical management of TAAD patients varies, depending on the different forms. Starting from the description of patient history, in this paper, we summarized the state of the art concerning assessment of clinical/genetic profile and therapeutic management of TAAD patients.

Author(s):  
Michael Shang ◽  
Gabe Weininger ◽  
Makoto Mori ◽  
Arianna Kahler‐Quesada ◽  
Ellelan Degife ◽  
...  

2005 ◽  
Vol 13 (1) ◽  
pp. 11-16 ◽  
Author(s):  
Yukio Kuniyoshi ◽  
Kageharu Koja ◽  
Kazufumi Miyagi ◽  
Tooru Uezu ◽  
Satoshi Yamashiro ◽  
...  

Nine cases of mycotic thoracic aortic aneurysm were treated surgically between July 1995 and March 2003. The aneurysms were located in the ascending aorta in 1 patient, the descending thoracic aorta in 5, and the thoracoabdominal aorta in 3. Preoperatively, 3 patients were in shock due to rupture of the aneurysm. All patients underwent aneurysmectomy and in-situ graft placement. In 5 patients, the graft was covered with a pedicled omental flap to prevent postoperative graft infection. There were 2 hospital deaths: one patient died of multi-organ failure, and the other died from intrathoracic bleeding. After discharge, one patient died from intrathoracic bleeding 3 months after surgery. These 3 patients had not received omental wrapping. Postoperative graft infection did not occur in the 6 surviving patients during a mean follow-up period of 4.0 ± 3.1 years. It was concluded that covering the prosthetic graft with a pedicled omental flap may help prevent postoperative graft infection and improve the surgical results.


2016 ◽  
Vol 60 (2) ◽  
Author(s):  
Marcin Milchert ◽  
Marek Brzosko

Aortitis is one of the manifestations of giant cell arteritis (GCA) and is included in its definition. There is a significantly increased risk of aortic aneurysm formation in GCA patients. In some GCA patients aortic aneurysm dissection is diagnosed only in autopsy. Monitoring of these patients, especially in long lasting disease, requires a doctor’s awareness of the possibility of aneurysm formation and aortic aneurysm dissection. Based on the available reports it cannot be confirmed whether intensification of aortitis treatment in GCA prevents the development of aneurysms. This article presents an overview of the available literature and our own experience on a rational diagnosis of inflammation and aneurysms of the aorta in GCA, as well as the prospects for its prevention.


2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
M Piazzani ◽  
F Fioretti ◽  
M Gheza ◽  
L Lupi ◽  
A Madureri ◽  
...  

Abstract Background In the last years prognosis of cancer patients (pts) has been improved, but the develop of cardiotoxicity (CTX) in pts with low CV risk treated with cumulative doses of Anthracycline (ANT) considered safe, led to investigate the possible role of the genetic profile in the onset of CTX. Purpose To study the role of some single nucleotide polymorphisms (SNPs) as predictive genetic markers of individual susceptibility to CTX induced by anticancer treatment. Methods We have enrolled women with non-metastatic breast cancer who had to start a therapy with ANT. The presence of a known heart disease, a previous mediastinal irradiation and a previous treatment with ANT, were the main exclusion criteria. All pts underwent complete cardiological evaluation (ECG, echo) before the beginning of the therapy (T0), after each ANT cycle and every 3 months up to 1 year of follow-up after the end of treatment. During each visit, we performed the determination of troponin I (TnI) and NT-proBNP. The genetic profile of each pts was also investigated, analyzing 6 SNPs belonging to 3 different genes (two for each genes) coding for enzymes or enzyme systems involved in the metabolism of ANT. DNA extraction from blood samples was performed using the QIAamp DNA Mini kit (QIAGEN). The DNA extracted was genotyped (by performing TaqMan SNP Genotyping assays) identifying 3 possible variants for each SNPs: homozygosity for the protective and “at risk” variant and heterozygosity. Results 179 pts finished the follow-up and from the analysis of the trend of biomarkers we found that 53 pts (30%) showed a significant increase in TnI (>0.04ng/mL) or less than this cut-off but persistently >0.015ng/mL in at least 2 measurements (“TnI+ group”), in the remaining 126 pts the TnI remained non-measurable (“TnI− group”); 76 pts (43%) showed NT-proBNP values ≥125 ng/L in at least two consecutive determinations (“NT-proBNP + group”),in the remaining 57% of pts this increase was not detected (“NT-proBNP - group”). Comparing “TnI+ group” to “TnI− group” we observed that only the genotyping of the SNPs rs1149222 (G/T) belonging to the ABCB4 gene is distributed differently in the two groups, in particular the homozygosity for the “at risk” variant (G/G) was present in 13% of the pts of the “TnI+ group” vs 5% in the “TnI− group” (p 0.06). The results of the comparison of “NT-proBNP+ group” vs “NT-proBNP− group”, showed that the genotyping of the SNPs rs6759892 (G/T) belonging to the UGT1A6 gene was distributed differently, the homozygosity for the “at risk” variant (G/G) was present in 28% of the “NT-proBNP+ group” vs 17% in the “NT-proBNP− group” (p 0.07). Conclusion Together with the baseline clinical evaluation, genetic markers could contribute to the early identification of pts at high risk of developing CTX especially following treatment with ANT and they could support future therapeutic decisions and the planning of taylored strategies for the prevention of the CTX development. Funding Acknowledgement Type of funding source: None


2020 ◽  
Vol 25 (44) ◽  
pp. 4675-4685 ◽  
Author(s):  
Petroula Nana ◽  
George Kouvelos ◽  
Alexandros Brotis ◽  
Konstantinos Spanos ◽  
Athanasios Giannoukas ◽  
...  

Aim: The effect of endovascular aneurysm repair in patients treated for abdominal aortic aneurysm has not been clearly defined. The objective of the present article was to provide a contemporary literature review and perform an analysis to determine the effect of EVAR on renal function in the early post-operative period and during follow-up. Methods: A systematic review of the literature was undertaken to identify all studies reporting the effect of EVAR on renal function. Outcome data were pooled and combined overall effect sizes were calculated using fixed or random-effects models. Results: Thirty-two studies reporting on 24846 patients were included. Acute renal failure after EVAR occurred with an estimated frequency of 9% (95%CI: 5-16%; I2=97%). Median follow-up period was 19.5 months (range 1-60 months). The estimated frequency of chronic renal failure during follow-up was 7% (95%CI: 3-17%; I2=98%). Hemodialysis was required in 2% (1-3%; I2=97%) of the cases. Conclusion: High-level evidence demonstrating the effect of EVAR on the incidence of acute and chronic renal failure is lacking. Based on the current available data, nearly 10% of patients undergoing EVAR for AAA have an increased risk for renal dysfunction after the procedure. Whether this deterioration may lead to a worse outcome has not been adequately proved.


2020 ◽  
Vol 26 (3) ◽  
pp. 102
Author(s):  
A. N. Kazantsev ◽  
A. N. Kokov ◽  
N. N. Burkov ◽  
B. L. Khaes ◽  
R. S. Tarasov

2020 ◽  
Vol 8 ◽  
pp. 2050313X2092644
Author(s):  
Koji Tsutsumi ◽  
Hideyuki Shimizu

The patient was a 76-year-old woman with an atypical descending thoracic aortic aneurysm due to a highly tortuous descending aorta. The surgical approach in this case required special consideration because of the aneurysm’s location. The main body of the aneurysm was in the right thoracic cavity. Descending thoracic aorta replacement with a prosthetic graft and aneurysmal total exclusion were performed through a left curvilinear thoracoabdominal incision. The patient’s postoperative course was uneventful. Surgical exclusion of a thoracic aortic aneurysm may be a useful technique in this special situation. Postoperative follow-up is needed to prevent early and late complications.


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