Evaluation of the 2021 ESC recommendations for family screening in hereditary transthyretin cardiac amyloidosis

AIMS: The 2021 European Society of Cardiology (ESC) screening recommendations for individuals carrying a pathogenic transthyretin amyloidosis variant (ATTRv) are based on expert opinion. We aimed to (i) determine the penetrance of ATTRv cardiomyopathy (ATTRv-CM) at baseline; (ii) examine the value of serial evaluation; and (iii) establish the yield of first-line diagnostic tests (i.e. electrocardiogram, echocardiogram, and laboratory tests) as per 2021 ESC position statement.METHODS AND RESULTS: We included 159 relatives (median age 55.6 [43.2-65.9] years, 52% male) at risk for ATTRv-CM from 10 centres. The primary endpoint, ATTRv-CM diagnosis, was defined as the presence of (i) cardiac tracer uptake in bone scintigraphy; or (ii) transthyretin-positive cardiac biopsy. The secondary endpoint was a composite of heart failure (New York Heart Association class ≥II) and pacemaker-requiring conduction disorders. At baseline, 40/159 (25%) relatives were diagnosed with ATTRv-CM. Of those, 20 (50%) met the secondary endpoint. Indication to screen (≤10 years prior to predicted disease onset and absence of extracardiac amyloidosis) had an excellent negative predictive value (97%). Other pre-screening predictors for ATTRv-CM were infrequently identified variants and male sex. Importantly, 13% of relatives with ATTRv-CM did not show any signs of cardiac involvement on first-line diagnostic tests. The yield of serial evaluation (n = 41 relatives; follow-up 3.1 [2.2-5.2] years) at 3-year interval was 9.4%.CONCLUSIONS: Screening according to the 2021 ESC position statement performs well in daily clinical practice. Clinicians should adhere to repeating bone scintigraphy after 3 years, as progressing to ATTRv-CM without signs of ATTRv-CM on first-line diagnostic tests or symptoms is common.</p

Evaluation of the 2021 ESC recommendations for family screening in hereditary transthyretin cardiac amyloidosis

AIMS: The 2021 European Society of Cardiology (ESC) screening recommendations for individuals carrying a pathogenic transthyretin amyloidosis variant (ATTRv) are based on expert opinion. We aimed to (i) determine the penetrance of ATTRv cardiomyopathy (ATTRv-CM) at baseline; (ii) examine the value of serial evaluation; and (iii) establish the yield of first-line diagnostic tests (i.e. electrocardiogram, echocardiogram, and laboratory tests) as per 2021 ESC position statement.METHODS AND RESULTS: We included 159 relatives (median age 55.6 [43.2-65.9] years, 52% male) at risk for ATTRv-CM from 10 centres. The primary endpoint, ATTRv-CM diagnosis, was defined as the presence of (i) cardiac tracer uptake in bone scintigraphy; or (ii) transthyretin-positive cardiac biopsy. The secondary endpoint was a composite of heart failure (New York Heart Association class ≥II) and pacemaker-requiring conduction disorders. At baseline, 40/159 (25%) relatives were diagnosed with ATTRv-CM. Of those, 20 (50%) met the secondary endpoint. Indication to screen (≤10 years prior to predicted disease onset and absence of extracardiac amyloidosis) had an excellent negative predictive value (97%). Other pre-screening predictors for ATTRv-CM were infrequently identified variants and male sex. Importantly, 13% of relatives with ATTRv-CM did not show any signs of cardiac involvement on first-line diagnostic tests. The yield of serial evaluation (n = 41 relatives; follow-up 3.1 [2.2-5.2] years) at 3-year interval was 9.4%.CONCLUSIONS: Screening according to the 2021 ESC position statement performs well in daily clinical practice. Clinicians should adhere to repeating bone scintigraphy after 3 years, as progressing to ATTRv-CM without signs of ATTRv-CM on first-line diagnostic tests or symptoms is common.</p

Recurrent intra-stent coronary restenosis in a carrier of non-disease-specific antinuclear antibodies

Intracoronary in-stent restenosis (ISR) is a phenomenon that generally occurs between 3 and 6 months after stent placement. With the introduction of drug-eluting stents (DES), the incidence of ISR has decreased but not disappeared. We report a case of reiterant in-stent restenosis of an 81-year-old female patient who underwent multiple percutaneous coronary intervention and two coronary artery bypass surgeries. ISR is possibly associated with extra-stent, stent-related and intra-stent factors. Here, we excluded the first two and focused on the intra-stent factors that seem more likely in our case. A challenging diagnostic workup led us to the hypothesis of a coronary vasculitis potentially triggered by some component of the stent in a predisposed patient carrier of non-disease-specific ANA, with an exaggerated immune response. No recurrence of ISR occurred after the introduction of steroids. Biological and intra-stent causes of ISR should be taken into careful consideration to aim for the early detection of the underlying mechanism of restenosis and to embrace the best therapeutic strategy

Persistent respiratory failure after SARS-CoV-2 infection: The role of dual energy computed tomography. A case report

Background: COVID-19 disease is often complicated by respiratory failure, developing through multiple pathophysiological mechanisms, with pulmonary embolism (PE) and microvascular thrombosis as key and frequent components. Newer imaging modalities such as dual-energy computed tomography (DECT) can represent a turning point in the diagnosis and follow-up of suspected PE during COVID-19. Case presentation: A 78-year-old female presented to our internal medicine 3 weeks after initial hospitalization for COVID-19 disease, for recrudescent respiratory failure needing oxygen therapy. A computed tomography (CT) lungs scan showed a typical SARSCoV-2 pneumonia. Over the following 15 days, respiratory function gradually improved. Unexpectedly, after 21 days from symptom onset, the patient started complaining of breath shortening with remarkable desaturation requiring high-flow oxygen ventilation. CT pulmonary angiography and transthoracic echocardiography were negative for signs of PE. Thereby, Dual-energy CT angiography of the lungs (DECT) was performed and detected diffuse peripheral microembolism. After 2 weeks, a second DECT was performed, showing a good response to the anticoagulation regimen, with reduced extent of microembolism and some of the remaining emboli partially recanalized. Discussion: DECT is an emerging diagnostic technique providing both functional and anatomical information. DECT has been reported to produce a much sharper delineation of perfusion defects than pulmonary scintigraphy, using a significantly lower equivalent dose of mSv. We highlight that DECT is particularly useful in SARS-Cov-2 infection, in order to determine the predominant underlying pathophysiology, particularly when respiratory failure prolongs despite improved lung parenchymal radiological finding

Postoperative atrial fibrillation after thoracic surgery (PoAF): risk factors and outcome

Abstract Background Postoperative AF (PoAF) is a common complication of the early postoperative period of noncardiac, thoracic surgery and is associated with prolonged hospital stay. In order to investigate the predictors of PoAF in the specific setting of lung surgery of oncologic patients, we retrospectively analyzed 338 consecutive patients admitted to our department to be operated for lung cancer with a thoracotomy approach (i.e., open surgery). We determined this population’s prevalence, risk factors, and consequences of PoAF. Results PoAF occurred in 35/338 (10.4%) patients and was significantly more frequent in older patients, with a best predictive value of 71 years at ROC curve analysis (AUC 0.70, p < 0.001) and in those with chronic renal failure (p = 0.01). The left atrial area was also significantly associated with the risk of PoAF (AUC 0.78, p = 0.000). PoAF was more frequent in patients with small cell and squamous cell carcinoma (p = 0.03). The occurrence of PoAF was associated with a longer hospital stay (p = 0.001) but not with higher long-term mortality (follow-up mean length: 3.3 ± 0.3 years). At multivariable analysis, the only independent predictors of PoAF were age (OR for 1-year increase 1.089, 95% CI 1.039–1.141, p 0.001) and open surgery (OR 2.07, 95% CI 1.0–4.29, p 0.047). At the 3-year follow-up, all patients were in sinus rhythm. Conclusions The present study shows the association between age and open surgery with PoAF, furtherly highlighting that the incidence of arrhythmia leads to a longer hospital stay. Left atrium dilatation could identify at-risk patients. Those results suggest that older patients — especially those with larger left atrium areas — might benefit most from a VATS approach to further reduce the arrhythmia incidence. Such a finding supports the indication of a systematic echocardiographic evaluation before elective lung surgery, especially in patients with known clinical risk factors

Impact of cardiac surgery on left-sided infective endocarditis with intermediate-length vegetations

International audienceObjective The best strategy to manage patients with left-sided infective endocarditis (IE) and intermediate-length vegetations (10–15 mm) remains uncertain. We aimed to evaluate the role of surgery in patients with intermediate-length vegetations and no other European Society of Cardiology guidelines-approved surgical indication. Methods We retrospectively enrolled 638 consecutive patients admitted to three academic centres (Amiens, Marseille and Florence University Hospitals) between 2012 and 2022 for left-sided definite IE (native or prosthetic) with intermediate-length vegetations (10–15 mm). We compared four clinical groups: medically (n=50) or surgically (n=345) treated complicated IE, medically (n=194) or surgically (n=49) treated uncomplicated IE. Results Mean age was 67±14 years. Women were 182 (28.6%). The rate of embolic events on admission was 40% in medically treated and 61% in surgically treated complicated IE, 31% in medically treated and 26% in surgically treated uncomplicated IE. The analysis of all-cause mortality showed the lowest 5-year survival rate for medically treated complicated IE (53.7%). We found a similar 5-year survival rate for surgically treated complicated IE (71.4%) and medically treated uncomplicated IE (68.4%). The highest 5-year survival rate was observed in surgically treated uncomplicated IE group (82.4%, log-rank p<0.001). The analysis of the propensity score-matched cohort estimated an HR of 0.23 for uncomplicated IE treated surgically compared with medical therapy (p=0.005, 95% CI: 0.079 to 0.656). Conclusions Our results suggest that surgery is associated with lower all-cause mortality than medical therapy in patients with uncomplicated left-sided IE with intermediate-length vegetations even in the absence of other guideline-based indications