A wide array ofmutations now numbering more than 200 have been identified in the BRCA1 gene, one of the two breast cancer susceptibility genes identified so far. In addition, there have been several variants described but it is not known if they really represent functionally significant mutations of the BRCA1 gene. We report evidence to show that the duplication/ insertion of 12 base pairs in intron 20 could have a real effect on expression of the BRCA1 gene, although it was also present in 1% of our control population.
Funding Acknowledgements Type of funding sources: Public Institution(s). Main funding source(s): Instituto de Salud Carlos III in Spain (Co-funded by European Social Fund "Investing in your future"). INTRODUCTION The Coronavirus disease 19 (COVID-19) pandemic has impacted clinical practice with important changes in the most affected areas, resulting in increased mortality from heart disease (myocardial infarction). The feasibility of continuing a temporary mechanical circulatory support (MCS) program is unknown. PURPOSE Our objective was to analyze the survival of patients requiring short-term MCS with veno-arterial extracorporeal membrane oxygenation (VA-ECMO) or Impella CP® during the COVID-19 pandemic. METHODS Retrospective study including all VA-ECMO and Impella CP® implants in a referral hospital since March 2020 compared to previous implants results. RESULTS Out of 167 short-term MCS implanted from 2013, 25 (15%) were conducted during the time of COVID-19 pandemic: 19 VA-ECMO and 6 Impella CP® (Table). Compared to preCOVID-19 implants, patients requiring MCS in the COVID era presented more frequently right ventricular dysfunction (p = 0.005) and showed a trend towards older age (p = 0.069) and lower left ventricular ejection fraction (p = 0.063), without other significant differences regarding the baseline situation and implant technique (Table). Encephalopathy was more frequent in the COVID-19 era, with no differences in other complications (Table). Survival at discharge was 43.7% in the pre-COVID era vs 36% during COVID-19 pandemic, without finding statistically significant differences (p = 0.313). CONCLUSION Survival after temporary MCS did not get worse significantly during the COVID-19 pandemic. The possibility of short-term MCS should be maintained for cardiogenic shock and other cases of hemodynamic instability. Comparison MCS before and during COVIDTime of implantP valueTime of implantP valuePre-COVID-192013-Feb 2020 (n = 142)COVID-19 timeMarch 2020-Nov 2020 (n = 25)Pre-COVID-192013-Feb 2020 (n = 142)COVID-19 timeMarch 2020-Nov 2020 (n = 25)Age (years) (mean+ SD)Male (n, %)62 ± 10 108 (76%)66 ± 10 15 (60%)0.069 0.079Support type VA-ECMO (n = 137) Impella CP® (n = 30) Percutaneous implant 118 (83.1%)24 (16.9%) 100 (70.4% 19 (76%) 6 (24%) 20 (80%)0.566 0.536Indication (n,%) Cardiogenic shock Refractory cardiac arrest Electrical storm0.63763 (44.4%)16 (11.3%)9 (6.3%)12 (48%) 4 (16%)2 (8%)Drugs at the implant Noradrenaline Dobutamine Adrenaline 115 (81%)114 (80.3%)51 (35.9%) 21 (84%) 21 (84%) 5 (20%) 0.370 0.312 0.108High-risk PCI Postcardiotomy shock Others17 (12%)36 (25.4%)1 (0.7%)3 (12%)4 (16%) 0 (0%)Time MCS (days)4.8 ± 53.9 ± 40.284 7.23 ± 0.16.8 ± 5 0.2920.495Complications (n,%) Vascular (bleeding, ischemia) Bleeding (minor or major) Critical care infections 35 (24.6%)59 (41.5%)67 (47.2%) 7 (28%) 9 (36%) 9 (36%) 0.096 0.117 0.096pH (mean + SD)lactate (mmol/L) (mean + SD)7.13 ± 16.03 ± 5LVEF (%) (mean + SD)Right ventricle dysfunction (n,%)28.7 ± 16 68 (47.9%)21.9 ± 15 20 (80%)0.063 0.005Ischemic/hemorragic stroke Renal replacement therapy Tracheostomy Encephalopathy9 (6.3%) 36 (25.4%) 23 (16.2%)14 (9.8%)2 (8%) 4 (16%) 5 (20%) 6 (24%)0.220 0.136 0.547 0.023Preimplant cardiac arrest (n,%)Cardiac arrest duration (min) (n,%)68 (47.9%) 28.7 ± 2312 (48%) 29.8 ± 230.364 0.880Survival at discharge (n,%)62 (43.7%)9 (36%)0.313
Funding Acknowledgements Type of funding sources: Public Institution(s). Main funding source(s): Instituto de Salud Carlos III in Spain (Co-funded by European Social Fund "Investing in your future"). INTRODUCTION Post-intensive care syndrome includes post-traumatic stress disorder (PTSD), reaching 27%. Veno-arterial extracorporeal membrane oxygenation (VA-ECMO) provides cardiopulmonary support in severe hemodynamic instability situations. PURPOSE Assess the prevalence of PTSD symptoms in adult survivors from Intensive Cardiac Care Unit (ICCU) admission requiring VA-ECMO support. METHODS Analysis of patients discharged after VA-ECMO in a referral hospital. They were screened through abbreviated Impact of Event Scale-6 (IES-6; 6 items). Its score was calculated as total (0-6 points) and mean (0-1). Respondents are asked to report their situation at the moment of screening (median time from discharge 31.4 [36] months). RESULTS Out of 135 VA-ECMO implants from 2013 to October 2020, 35.6% survived the ICCU admission. After 31.4 [36] months follow-up, 40 patients remain alive. 34 patients responded to questionnaire. All patients required sedation and invasive mechanical ventilation. Baseline situation and complications are summarized in Table. Total and mean score on the IES-6 were 1.26 ± 2.11 and 0.21 ± 0.35 respectively. Up to 29.4% of patients had PTSD symptoms (Figure). The total and mean score in IES-6 was significantly correlated with the time elapsed since admission (R = 0.428, p = 0.012 and R = 0.427, p = 0.012 respectively). The patients with altered IES-6 items had passed a longer time since admission in ICCU (44 ± 15 vs 30 ± 20 months, p = 0.034). CONCLUSION Survivors from admission requiring VA-ECMO support show high prevalence of PTSD symptoms, appearing more frequently when more time has elapsed since admission. Special attention should be paid to psychological symptoms after VA-ECMO. Table. Implant status and complications Implant status and complications of VA-ECMO survivors.N = 34Age (years) (mean+ SD)Male (n, %)61.3 ± 1029 (85.3%)Brigde to (n,%) Recovery Transplant Ventricular assist device Elective High-risk PCI29 (85.3%)3 (8.8%)0 (0%)2 (5.9%)Indication (n,%)Cardiogenic shock Refractory cardiac arrest Electrical storm14 (41.1%)2 (5.9%)6 (17.6%)Percutaneous implant (n,%)Femoro-femoralIntraaortic balloon pump21 (61.8%)28 (82.4%)10 (29.4%)High-risk percutaneous coronary intervention Postcardiotomy shock 2 (5.9%)10 (29.4%)Time ECMO support (days)Time under mechanical ventilation (days)5.9 ± 3.614.5 ± 22pH (mean + SD)lactate (mmol/L) (mean + SD)7.3 ± 0.26.3 ± 4.6Complications (n,%) Vascular (bleeding, ischemia) Bleeding (minor or major) Critical care infections during admission10 (29.4%)11 (32.4%)20 (58.8%)Left ventricular ejection fraction (%) (mean + SD)Right ventricular dysfunction (n,%)30.6 ± 1620 (58.8%)Noradrenaline Dobutamine Adrenaline30 (88.2%)27 (79.4%)11 (32.4%)Ischemic/hemorragic stroke Renal replacement therapy Tracheostomy Critically illness polyneuropathy1 (2.9%)9 (26.5%)10 (29.4%)15 (44.1%)Preimplant cardiac arrest (n,%)Cardiac arrest duration (min) (n,%)Extracorporeal cardiopulmonary resuscitation (ECPR) (n,%)19 (55.9%)14 ± 143 (8.8%)Abstract Figure. IES-6 results.
Funding Acknowledgements Type of funding sources: Public grant(s) – EU funding. Main funding source(s): Contract (CM19/00055) supported by the Instituto de Salud Carlos III in Spain (Co-funded by European Social Fund "Investing in your future"). Background Elderly patients present higher risk for developing complications after an acute myocardial infarction (AMI) and reduced left ventricular ejection fraction (rLVEF) constitutes an adverse prognostic factor. Purpose The main objective was to characterize elderly population with AMI and rLVEF and analyze prognostic factors. Methods Retrospective analysis of hospitalized elderly patients (> 75 years old) with AMI and rLVEF <40% between January 2018 and December 2019. We analyze the occurrence of adverse outcomes in the follow-up: combined event (death from any cause and/or hospitalization from heart failure (HF) and/or AMI and/or ventricular arrhythmias) and its relationship with different variables (Figure 1). Results Out of 179 patients, 100 >75 years old patients (55.9%) were included (Figure 1). After a mean follow-up of 3.8 [18.4] months, the combined event happened in 52% of them (figure 1, figure 2). Older age was associated with the combined event (86.8+8 years occurrence of event vs. 82.6+5.1 event-free, p=0.003). Variables significantly related with the occurrence of the combined event were chronic kidney disease (CKD) (72.7% occurrence of event vs. 46.2% event-free, p=0.032), higher values of creatinine (1.6+1 vs. 1.1+0.3, p=0.002), the presentation with acute pulmonary oedema (APO) (91.7% vs. 39.5%, p<0.001) and cardiogenic shock (93.2% vs. 41%, p<0.001), the need for noradrenaline (92.9% vs. 45.3%, p=0.001) and dobutamine (100% vs. 46.7%, p=0.001), the revascularization (completely percutaneous 43.5% of combined event, partial percutaneous 41.4%, partial surgical 100%, absence of revascularization 78.6%, p=0.034) and the presence of associated severe valvular disease (84.6% vs. 42%, p<0.001). We observed a trend although not statistically significant, to present higher values of NT-proBNP at the admission (16850 vs. 9044, p=0.71) and the initial presentation of non-ST elevation-acute coronary syndrome (NSTE-ACS) (28.6% of event in ST segment elevation myocardial infarction (STEMI) vs. 58.6% in NSTE-ACS, p=0.088) in patients who suffered the combined event in the follow-up. Conclusions More than half the patients with 75 years old or higher presented adverse outcomes in the short term after a hospitalization for AMI with rLVEF. The most advanced age, the presentation as APO or cardiogenic shock, CKD, absence of revascularization, need for drugs and the presence of concomitant severe valvular disease were related with the appearance of the combined event (death, HF, AMI, ventricular arrhythmias).
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