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Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study.

ABSTRACT: Background Diseases of the thoracic aorta are characterized by a familial etiology in up to 30% of the cases. Nonsyndromic thoracic aorta diseases (NS-TADs) lack overt clinical signs and systemic features, which hinder early detection and prompt surgical intervention. We hypothesize that tailored genetic testing and imaging of first-degree and second-degree relatives of patients affected by NS-TADs may enable early diagnosis and allow appropriate surveillance or intervention. Methods and Results We conducted a feasibility study involving probands affected by familial or sporadic NS-TADs who had undergone surgery, which also offered screening to their relatives. Each participant underwent a combined imaging (echocardiogram and magnetic resonance imaging) and genetic (whole exome sequencing) evaluation, together with physical examination and psychological assessment. The study population included 16 probands (8 sporadic, 8 familial) and 54 relatives (41 first-degree and 13 second-degree relatives) with median age 48 years (range: 18-85 years). No syndromic physical features were observed. Imaging revealed mild-to-moderate aortic dilation in 24% of relatives. A genetic variant of uncertain significance was identified in 3 families. Imaging, further phenotyping, or a form of secondary prevention was indicated in 68% of the relatives in the familial group and 54% in the sporadic group. No participants fulfilled criteria for aortic surgery. No differences between baseline and 3-month follow-up scores for depression, anxiety, and self-reported quality of life were observed. Conclusions In NS-TADs, imaging tests, genetic counseling, and family screening yielded positive results in up to 1 out of 4 screened relatives, including those in the sporadic NS-TAD group. Registration URL: https://www.clinicaltrials.gov; Unique identifier: NCT03861741.

SUBMITTER: Abbasciano RG

PROVIDER: S-EPMC9238461 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:ObjectiveThis study aimed to summarize the long-term experience of using the chimney technique in thoracic endovascular aortic repair (TEVAR) for aortic arch diseases.MethodsFrom November 2007 to June 2021, a total of 345 consecutive patients (mean age 56 ± 11.3 years, range 28-83, 302 men) with aortic arch pathologies underwent TEVAR combined with chimney technique (cTEVAR). Their medical data and follow-up results were retrospectively reviewed and analyzed.ResultsAmong the 345 patients, 278 (80.6%) received single chimneys, 53 (15.4%) received double chimneys, 7 (2%) received triple chimneys, and 7 (2%) underwent cTEVAR accompanied by other techniques (two with extra-anatomical bypass, two with in situ fenestration, and three with physician modified fenestration). A total of 412 chimney stents were used, including 27 in the innominate artery (IA), 113 in the left common carotid artery, 270 in the left subclavian artery, and two in the aberrant right subclavian artery. Early type IA endoleaks were found in 38 (11%) patients, including 12 with the double or triple chimney technique. Early type II endoleak was found in nine (2.6%) patients. Early re-intervention occurred in two patients with double chimney technique, one for chimney stent migration and the other for compression of chimney stent. The 30-day mortality was 1.2% (4 in 345). During a mean follow-up of 42 ± 22 months (range 1-108 months), major stroke occurred in nine (2.6%) patients, chimney occlusion or stenosis occurred in six (1.7%), and retrograde type A aortic dissection occurred in four (1.2%). Fourteen (4.1%) patients received the secondary intervention. The all-cause mortality was 6.7% (23 in 345). Additionally, the total adverse event rate after cTEVAR was 13.9% (48 in 345).ConclusionTEVAR with chimney technique provides a minimally invasive alternative with good chimney graft patency and low postoperative mortality during follow-up. However, the double and triple chimney techniques should be used cautiously as they seem to have a higher risk for type IA endoleak and adverse events after the operation.

Project description:BackgroundDescending thoracic aortic aneurysms and dissections can go undetected until severe and catastrophic, and few clinical indices exist to screen for aneurysms or predict risk of dissection.MethodsThis study generated a plasma proteomic dataset from 75 patients with descending type B dissection (Type B) and 62 patients with descending thoracic aortic aneurysm (DTAA). Standard statistical approaches were compared to supervised machine learning (ML) algorithms to distinguish Type B from DTAA cases. Quantitatively similar proteins were clustered based on linkage distance from hierarchical clustering and ML models were trained with uncorrelated protein lists across various linkage distances with hyperparameter optimization using 5-fold cross validation. Permutation importance (PI) was used for ranking the most important predictor proteins of ML classification between disease states and the proteins among the top 10 PI protein groups were submitted for pathway analysis.ResultsOf the 1,549 peptides and 198 proteins used in this study, no peptides and only one protein, hemopexin (HPX), were significantly different at an adjusted p-value <0.01 between Type B and DTAA cases. The highest performing model on the training set (Support Vector Classifier) and its corresponding linkage distance (0.5) were used for evaluation of the test set, yielding a precision-recall area under the curve of 0.7 to classify between Type B from DTAA cases. The five proteins with the highest PI scores were immunoglobulin heavy variable 6-1 (IGHV6-1), lecithin-cholesterol acyltransferase (LCAT), coagulation factor 12 (F12), HPX, and immunoglobulin heavy variable 4-4 (IGHV4-4). All proteins from the top 10 most important correlated groups generated the following significantly enriched pathways in the plasma of Type B versus DTAA patients: complement activation, humoral immune response, and blood coagulation.ConclusionsWe conclude that ML may be useful in differentiating the plasma proteome of highly similar disease states that would otherwise not be distinguishable using statistics, and, in such cases, ML may enable prioritizing important proteins for model prediction.

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Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study.

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