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1.
Herz ; 2021 Nov 15.
Artigo em Alemão | MEDLINE | ID: mdl-34779865

RESUMO

The current European guidelines on cardiopulmonary resuscitation were published in 2021. The guidelines, which are structured in 12 chapters, were supplemented with the chapters on epidemiology and life-saving systems. In the following article, the recommendations on basic life support, advanced measures for resuscitation in adults and postresuscitation treatment are discussed.

2.
Circ Heart Fail ; 2021 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-34807723

RESUMO

BACKGROUND: Current practice in cardiogenic shock is guided by expert opinion in guidelines and scientific statements from professional societies with limited high quality randomized trial data to inform optimal patient management. An international panel conducted a modified Delphi process with the intent of identifying aspects of cardiogenic shock care where there was uncertainty regarding optimal patient management. METHODS: An 18-person multidisciplinary panel comprising international experts was convened. A modified RAND/University of California Los Angeles appropriateness methodology was used. A survey comprising 70 statements was completed. Participants anonymously rated the appropriateness of each statement on a scale of 1 to 9: 1 to 3 inappropriate, 4 to 6 uncertain, and 7 to 9 appropriate. A summary of the results was discussed as a group, and the survey was iterated and completed again before final analysis. RESULTS: There was broad alignment with current international guidelines and consensus statements. Overall, 44 statements were rated as appropriate, 19 as uncertain, and 7 as inappropriate. There was no disagreement with a disagreement index <1 for all statements. Routine fluid administration was deemed to be inappropriate. Areas of uncertainty focused panel on pre-PCI interventions, the use of right heart catheterization to guide management, routine use of left ventricular unloading strategies, and markers of futility when considering escalation to mechanical circulatory support. CONCLUSIONS: While there was broad alignment with current guidance, an expert panel found several aspects of care where there was clinical equipoise, further highlighting the need for randomized controlled trials to better guide patient management and decision making in cardiogenic shock.

3.
Artigo em Inglês | MEDLINE | ID: mdl-34801449

RESUMO

OBJECTIVES: To analyze the ability of machine-learning (ML)-based computed tomography (CT)-derived fractional flow reserve (CT-FFR) to further improve the diagnostic performance of coronary CT angiography (cCTA) for ruling out significant coronary artery disease (CAD) during pre-transcatheter aortic valve replacement (TAVR) evaluation in patients with a high pre-test probability for CAD. BACKGROUND: CAD is a frequent comorbidity in patients undergoing TAVR. Current guidelines recommend its assessment before TAVR. If significant CAD can be excluded on cCTA, invasive coronary angiography (ICA) may be avoided. Although cCTA is a very sensitive test, it is limited by relatively low specificity and positive predictive value, particularly in high-risk patients. METHODS: Overall, 460 patients (79.6 ± 7.4 years) undergoing pre-TAVR CT were included and examined with an electrocardiogram-gated CT scan of the heart and high-pitch scan of the vascular access route. Images were evaluated for significant CAD. Patients routinely underwent ICA (388/460), which was omitted at the discretion of the local Heart Team if CAD could be effectively ruled out on cCTA (72/460). CT examinations in which CAD could not be ruled out (CAD+) (n = 272) underwent additional ML-based CT-FFR. RESULTS: ML-based CT-FFR was successfully performed in 79.4% (216/272) of all CAD+ patients and correctly reclassified 17 patients as CAD negative. CT-FFR was not feasible in 20.6% because of reduced image quality (37/56) or anatomic variants (19/56). Sensitivity, specificity, positive predictive value, and negative predictive value were 94.9%, 52.0%, 52.2%, and 94.9%, respectively. The additional evaluation with ML-based CT-FFR increased accuracy by Δ+3.4% (CAD+: Δ+6.0%) and raised the total number of examinations negative for CAD to 43.9% (202/460). CONCLUSIONS: ML-based CT-FFR may further improve the diagnostic performance of cCTA by correctly reclassifying a considerable proportion of patients with morphological signs of obstructive CAD on cCTA during pre-TAVR evaluation. Thereby, CT-FFR has the potential to further reduce the need for ICA in this challenging elderly group of patients before TAVR.

4.
J Am Coll Cardiol ; 78(21): 2060-2072, 2021 Nov 23.
Artigo em Inglês | MEDLINE | ID: mdl-34794687

RESUMO

BACKGROUND: The optimal duration of dual antiplatelet therapy (DAPT) after percutaneous coronary intervention (PCI) among patients at high bleeding risk (HBR) is unknown. OBJECTIVES: The purpose of this analysis was to compare 1 vs 3 months of DAPT in HBR patients undergoing drug-eluting stent implantation. METHODS: The XIENCE Short DAPT program comprised 3 prospective, multicenter, single-arm studies of HBR patients treated with a short DAPT course followed by aspirin monotherapy after PCI with a cobalt-chromium everolimus-eluting stent. In this exploratory analysis, patients who received 1-month DAPT (XIENCE 28 USA and 28 Global) were compared with those on 3-month DAPT (XIENCE 90) using propensity score stratification. Ischemic and bleeding outcomes were assessed between 1 and 12 months after index PCI. RESULTS: A total of 3,652 patients were enrolled and 1,392 patients after 1-month DAPT and 1,972 patients after 3-month DAPT were eligible for the analyses. The primary endpoint of all-cause mortality or myocardial infarction was similar between the 2 groups (7.3% vs 7.5%; difference -0.2%; 95% CI: -2.2% to 1.7%; P = 0.41). The key secondary endpoint of BARC (Bleeding Academic Research Consortium) type 2-5 bleeding was lower with 1-month DAPT compared with 3-month DAPT (7.6% vs 10.0%; difference -2.5%; 95% CI: -4.6% to -0.3%; P = 0.012). Major BARC type 3-5 bleeding did not differ at 12 months (3.6% vs 4.7%; difference -1.1%; 95% CI: -2.6% to 0.4%; P = 0.082), but was lower with 1-month DAPT at 90 days (1.0% vs 2.1%; P = 0.015). CONCLUSIONS: Among HBR patients undergoing PCI, 1 month of DAPT, compared with 3 months of DAPT, was associated with similar ischemic outcomes and lower bleeding risk. (XIENCE 90 Study; NCT03218787; XIENCE 28 USA Study; NCT03815175; XIENCE 28 Global Study; NCT03355742).

5.
Prog Cardiovasc Dis ; 2021 Nov 18.
Artigo em Inglês | MEDLINE | ID: mdl-34801576

RESUMO

Cardiogenic shock (CS) represents one of the foremost concerns in the field of acute cardiovascular medicine. Despite major advances in treatment, mortality of CS remains high. International societies recommend the development of expert CS centers with standardized protocols for CS diagnosis and treatment. In these terms, devices for temporary mechanical circulatory support (MCS) can be used to support the compromised circulation and could improve clinical outcome in selected patient populations presenting with CS. In the past years, we have witnessed an immense increase in the utilization of MCS devices to improve the clinical problem of low cardiac output. Although some treatment guidelines include the use of temporary MCS up to now no large randomized controlled trial confirmed a reduction in mortality in CS patients after MCS and additional research evidence is necessary to fully comprehend the clinical value of MCS in CS. In this article, we provide an overview of the most important diagnostic and therapeutic modalities in CS with the main focus on contemporary MCS devices, current state of art and scientific evidence for its clinical application and outline directions of future research efforts.

6.
JAMA ; 326(18): 1840-1850, 2021 Nov 09.
Artigo em Inglês | MEDLINE | ID: mdl-34751704

RESUMO

Importance: Cardiogenic shock affects between 40 000 and 50 000 people in the US per year and is the leading cause of in-hospital mortality following acute myocardial infarction. Observations: Thirty-day mortality for patients with cardiogenic shock due to myocardial infarction is approximately 40%, and 1-year mortality approaches 50%. Immediate revascularization of the infarct-related coronary artery remains the only treatment for cardiogenic shock associated with acute myocardial infarction supported by randomized clinical trials. The Percutaneous Coronary Intervention Strategies with Acute Myocardial Infarction and Cardiogenic Shock (CULPRIT-SHOCK) clinical trial demonstrated a reduction in the primary outcome of 30-day death or kidney replacement therapy; 158 of 344 patients (45.9%) in the culprit lesion revascularization-only group compared with 189 of 341 patients (55.4%) in the multivessel percutaneous coronary intervention group (relative risk, 0.83 [95% CI, 0.71-0.96]; P = .01). Despite a lack of randomized trials demonstrating benefit, percutaneous mechanical circulatory support devices are frequently used to manage cardiogenic shock following acute myocardial infarction. Conclusions and Relevance: Cardiogenic shock occurs in up to 10% of patients immediately following acute myocardial infarction and is associated with mortality rates of nearly 40% at 30 days and 50% at 1 year. Current evidence and clinical practice guidelines support immediate revascularization of the infarct-related coronary artery as the primary therapy for cardiogenic shock following acute myocardial infarction.


Assuntos
Infarto do Miocárdio/complicações , Revascularização Miocárdica/métodos , Choque Cardiogênico/terapia , Cardiotônicos/uso terapêutico , Oxigenação por Membrana Extracorpórea , Coração Auxiliar , Humanos , Intervenção Coronária Percutânea , Choque Cardiogênico/etiologia , Choque Cardiogênico/mortalidade , Choque Cardiogênico/fisiopatologia , Tempo para o Tratamento
7.
Clin Res Cardiol ; 2021 Nov 09.
Artigo em Inglês | MEDLINE | ID: mdl-34751789

RESUMO

OBJECTIVE: To assess temporal trends of patient baseline characteristics, risk profile and outcome of transcatheter aortic valve implantation (TAVI) between 2013 and 2020. BACKGROUND: Guideline recommendations and increasing confidence in TAVI therapy may have changed the selection of TAVI patients. METHODS: Baseline risk profile and VARC-2 outcome of 15,344 patients undergoing TAVI at 5 high volume centers in Germany over the time period 2013-2020 was analyzed. RESULTS: Over the 8 years, annual TAVI volumes more than doubled from 1071 in 2013 to 2996 in 2020. The baseline surgical risk estimated by the Society of Thoracic Surgeons (STS) score declined from 7.2 ± 6.2% to 4.6 ± 3.7% (P < 0.001) as a consequence of lower comorbidity burden, whereas mean age remained unchanged (2013 81.0 ± 6.1; 2020 80.8 ± 6.4; P = 0.976) with patients ≥ 80 years accounting for about two-third of the treated cohort. Periprocedural complications including bleeding (2013 24.5%; 2020 12.1%; P < 0.001), vascular complications (2013 20.7%; 2020 11.7%; P < 0.001) and new permanent pacemaker implantation (2013 20.1%; 2020 13.8%, P < 0.001) decreased significantly. Similarly, the 30-day mortality decreased from 5.4% to 2.1% (P < 0.001), but remained high in high-risk patients (STS > 8% 2013 7.5%; 2020 6.9%; P = 0.778). CONCLUSION: From 2013 to 2020, mortality and burden of complications following TAVI procedure significantly decreased in a large multicenter registry from Germany. Proportion of elderly patients remained stable, while the surgical risk profile decreased.

8.
Circulation ; 2021 Nov 05.
Artigo em Inglês | MEDLINE | ID: mdl-34738828

RESUMO

Background: Transcatheter aortic valve replacement (TAVR) is an established treatment option for patients with severe symptomatic aortic stenosis (AS), and is most commonly performed through the transfemoral access route. Percutaneous access site closure can be achieved using dedicated plug-based or suture-based vascular closure device (VCD) strategies, but randomized comparative studies are scarce. Methods: The CHOICE-CLOSURE (Randomized Comparison of CatHeter-based Strategies fOr Interventional ACcess SitE CLOSURE during Transfemoral Transcatheter Aortic Valve Implantation) trial is an investigator-initiated, multicenter study, in which patients undergoing transfemoral TAVR were randomly assigned to vascular access site closure using either a pure plug-based technique (MANTA, Teleflex, Wayne, Pennsylvania) with no additional VCDs or a primary suture-based technique (ProGlide, Abbott Vascular, Abbott Park, Illinois) potentially complemented by a small-plug. The primary endpoint consisted of access-site or access-related major and minor vascular complications during index hospitalization, defined according to the Valve Academic Research Consortium-2 criteria. Secondary endpoints included the rate of access-site or access-related bleeding, VCD failure, and time to hemostasis Results: A total of 516 patients were included and randomized. The mean age of the study population was 80.5±6.1 years, 55.4% were male, 7.6% of patients had peripheral vascular disease, and the mean Society of Thoracic Surgeons score was 4.1±2.9%. The primary endpoint occurred in 19.4% (50/258) of the pure plug-based group and 12.0% (31/258) of the primary suture-based group (relative risk [RR]: 1.61, 95% confidence interval [CI]: 1.07-2.44, p=0.029). Access-site or access-related bleeding occurred in 11.6% vs. 7.4% (RR: 1.58, 95%CI: 0.91-2.73, p=0.133) and device failure in 4.7% vs. 5.4% (RR: 0.86, 95%CI: 0.40-1.82, p=0.841) in the respective groups. Time to hemostasis was significantly shorter in the pure plug-based group (80 [32, 180] vs. 240 [174, 316] seconds, p<0.001). Conclusions: Among patients treated with transfemoral TAVR, a pure plug-based vascular closure technique using the MANTA VCD is associated with a higher rate of access-site or access-related vascular complications but a shorter time to hemostasis compared to a primary suture-based technique using the ProGlide VCD.

9.
Int J Cardiol ; 2021 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-34767896

RESUMO

BACKGROUND: Cardiac magnetic resonance (CMR) imaging provides valuable prognostic information in patients with ST-elevation myocardial infarction (STEMI). The peri-infarct zone (PIZ) is a potential marker for post-infarction risk stratification. The aim of this study was to assess the prognostic impact of PIZ in a large multicenter STEMI-trial. METHODS: The study population consisted of 704 consecutive patients undergoing CMR within 10 days after STEMI to assess established parameters of myocardial injury and additionally the extent of PIZ. The primary clinical endpoint was major adverse cardiac events (MACE) consisting of death, re-infarction and new congestive heart failure within 1 year after infarction. RESULTS: The median heterogeneous PIZ-volume in the overall population was 14 ml (interquartile range [IQR] 7 to 24 ml). Male sex, infarct size, and left ventricular ejection fraction were identified as independent predictors of larger PIZ alterations. Patients with MACE had a significantly larger PIZ volume compared to patients without adverse events (21 ml [IQR 12 to 35 ml] versus 14 ml [IQR 7 to 23 ml]; p = 0.001). In stepwise multivariable Cox regression analysis, PIZ > median (>14 ml) emerged as an independent predictor of MACE (hazard ratio [HR] 2.84; 95% confidence interval [CI] 1.34 to 6.00; p = 0.006) in addition to the Thrombolysis In Myocardial Infarction (TIMI) risk score (HR 1.53; 95% CI 1.19 to 1.53; p < 0.001). Addition of PIZ to a CMR risk model comprising LVEF, infarct size and microvascular obstruction resulted in net reclassification improvement of 0.46 (0.19-0.73, p < 0.001). CONCLUSION: In this currently largest prospective, multicenter CMR study assessing PIZ, the extent of PIZ emerged as an independent predictor of MACE and a potential novel marker for optimized risk stratification in STEMI patients. ClinicalTrials.gov: NCT00712101.

11.
Am J Med Genet A ; 2021 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-34611991

RESUMO

Pathogenic biallelic variants in POL3RA have been associated with different disorders characterized by progressive neurological deterioration. These include the 4H leukodystrophy syndrome (hypomyelination, hypogonadotropic hypogonadism, and hypodontia) and adolescent-onset progressive spastic ataxia, as well as Wiedemann-Rautenstrauch syndrome (WRS), a recognizable neonatal progeroid syndrome. The phenotypic differences between these disorders are thought to occur mainly due to different functional effects of underlying POLR3A variants. Here we present the detailed clinical course of a 37-year-old woman in whom we identified a homozygous synonymous POLR3A variant c.3336G>A resulting in leaky splicing r.[3336ins192, =, 3243_3336del94]. She presented at birth with intrauterine growth retardation, lipodystrophy, muscular hypotonia, and several WRS-like facial features, albeit without sparse hair and prominent scalp veins. She had no signs of developmental delay or intellectual disability. Over the years, above characteristic facial features, she showed severe postnatal growth retardation, global lipodystrophy, joint contractures, thoracic hypoplasia, scoliosis, anodontia, spastic quadriplegia, bilateral hearing loss, aphonia, hypogonadotropic hypogonadism, and cerebellar peduncles hyperintensities in brain imaging. These manifestations partially overlap the clinical features of the previously reported POLR3A-associated disorders, mostly mimicking the WRS. Thus, our study expands the POLR3A-mediated phenotypic spectrum and suggests existence of a phenotypic continuum underlying biallelic POLR3A variants.

12.
EuroIntervention ; 2021 Oct 06.
Artigo em Inglês | MEDLINE | ID: mdl-34609284

RESUMO

BACKGROUND: Calcified coronary lesions present therapeutic challenges for the interventional cardiologist, often requiring rotational atherectomy (RA). AIMS: This study aimed to develop an angiographic scoring tool to predict the need for a priori RA. METHODS: A pooled analysis of the randomised ROTAXUS and PREPARE-CALC studies was carried out, (N=220 patients, N=313 lesions), by virtue of the fact that both studies made provision for crossover to RA (from balloon dilatation or modified balloon dilatation, respectively). Logistical regression techniques were employed to assess for the presence of patient- or lesion-specific factors leading to a necessity for RA. External validation was performed though retrospective calculation of the score for 192 patients who underwent bail-out RA in a single centre. RESULTS: Lesion length (odds ratio [OR] 1.02, 95% confidence interval [CI]: 1.00-1.04 per mm, p=0.04), bifurcation lesion (OR 2.60, 95% CI: 1.27-5.30, p=0.009), vessel tortuosity >45° (OR 3.49, 95% CI: 1.73-7.03, p<0.001) and severe vessel calcification (OR 11.60, 95% CI: 3.40-39.64, p<0.001) were predictive of the need for RA in multivariate analysis. Based on the regression coefficients, a scoring system was devised. The greater the score, the more likely a lesion required RA. The scoring system performed well in the external validation cohort, with 78% of patients crossing over having a score of greater than the proposed cut-off of 3. CONCLUSIONS: We provide an angiographic scoring tool to support the expeditious use of time and resources, allowing assessment of the likelihood of success of a balloon-based strategy, or the necessity for RA.

13.
Artigo em Inglês | MEDLINE | ID: mdl-34651196

RESUMO

BACKGROUND: Little is known about sex differences in elderly patients after out-of-hospital cardiac arrest (OHCA) with return of spontaneous circulation (ROSC) and subsequent target temperature management (TTM). Therefore, this study was designed to evaluate sex-specific differences in survival and neurological outcome in elderly patients at 28-day and 180-day follow-up. METHODS: A total of 468 nontraumatic OHCA survivors with preclinical ROSC and an age of ≥ 65 years were included in this study. Sex-specific differences in survival and a favorable neurological outcome according to the cerebral performance category (CPC) score were evaluated as clinical endpoints. RESULTS: Of all participants included, 70.7% were men and 29.3% women. Women were significantly older (p = 0.011) and were more likely to have a nonshockable rhythm (p = 0.001) than men. Evaluation of survival rate and favorable neurological outcome by sex category showed no significant differences at 28-day and 180-day follow-up. In multiple stepwise logistic regression analysis, age (odds ratio 0.932 [95% confidence interval 0.891-0.951], p = 0.002) and time of hypoxia (0.899 [0.850-0.951], p < 0.001) proved to be independent predictors of survival only in male patients, whereas an initial shockable rhythm (4.325 [1.309-14.291], p = 0.016) was associated with 180-day survival in female patients. The majority of patients (93.7%) remained in the same CPC category when comparing 28-day and 180-day follow-up. CONCLUSION: Our results show no significant sex-specific differences in survival or favorable neurological outcome in elderly patients after having survived OHCA, but sex-specific predictors for 180-day survival. Moreover, the neurological assessment 28 days after the index event also seems to provide a valid indication for the further prognosis in elderly patients.

15.
J Am Coll Cardiol ; 78(16): 1621-1631, 2021 Oct 19.
Artigo em Inglês | MEDLINE | ID: mdl-34649700

RESUMO

BACKGROUND: Individualized risk prediction represents a prerequisite for providing personalized medicine. OBJECTIVES: This study compared proteomics-enabled machine-learning (ML) algorithms with classical and clinical risk prediction methods for all-cause mortality in cohorts of patients with cardiovascular risk factors in the LIFE-Heart Study, followed by validation in the PLIC (Progressione della Lesione Intimale Carotidea) study. METHODS: Using the OLINK-Cardiovascular-II panel, 92 proteins were measured in a cohort of 1,998 individuals from the LIFE-Heart Study (derivation) and 772 subjects from the PLIC cohort (external validation). We constructed protein-based mortality prediction models using eXtreme Gradient Boosting (XGBoost) and a neural network, comparing the prediction performance with classical clinical risk scores (Systemic Coronary Risk Evaluation, Framingham), logistic and Cox regression models. RESULTS: All-cause mortality occurred in 156 (8%) patients in the internal validation and 68 (9%) patients in the external validation cohort, within a median follow-up of 10 and 11 years, respectively. On internal and external validation, the Framingham Risk Score achieved areas under the curve (AUCs) of 0.64 (95% CI: 0.59-0.68) and 0.65 (95% CI: 0.58-0.74), logistic regression AUCs of 0.65 (95% CI: 0.57-0.73) and 0.67 (95% CI: 0.59-0.74), Cox regression AUCs of 0.55 (95% CI: 0.51-0.59) and 0.65 (95% CI: 0.57-0.73), the XGBoost classifier AUCs of 0.83 (95% CI: 0.79-0.87) and 0.91 (95% CI: 0.86-0.95), the XGBoost survival estimator AUCs of 0.83 (95% CI: 0.79-0.87) and 0.93 (95% CI: 0.88-0.97), and the neural network AUCs of 0.87 (95% CI: 0.83-0.91) and 0.94 (95% CI: 0.90-0.98), respectively (modern vs classical ML: P < 0.001). CONCLUSIONS: ML-driven multiprotein risk models outperform classical regression models and clinical scores for prediction of all-cause mortality in patients at increased cardiovascular risk.

17.
J Am Heart Assoc ; 10(21): e022429, 2021 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-34713718

RESUMO

Background Recent trial results support the efficacy of renal sympathetic denervation in lowering blood pressure (BP). While BP reduction in general is associated with a clinically meaningful reduction in cardiovascular events and mortality, such a relationship has not been described for patients undergoing renal sympathetic denervation. Methods and Results Clinical events were assessed in patients who underwent renal sympathetic denervation at our center using telephone- and clinical follow-up, interviews with general practitioners, as well as review of hospital databases. Event rates were compared between BP responders (≥5 mm Hg 24-hour ambulatory BP reduction) and non-responders; 296 patients were included. Compared with baseline, 24-hour systolic ambulatory BP was reduced by 8.3±12.2 mm Hg and diastolic BP by 4.8±7.0 mm Hg (P<0.001 for both) after 3 months. One hundred eighty patients were classified as BP responders and 116 as non-responders. During a median follow-up time of 48 months, significantly less major adverse cardiovascular events (cardiovascular death, stroke, myocardial infarction, critical limb ischemia, renal failure) occurred in responders than in non-responders (22 versus 23 events, hazard ratio [HR], 0.53 [95% CI, 0.28 to 0.97], P=0.041). This was consistent after adjustment for potential confounders as well as confirmed by propensity-score matching. A proportional relationship was found between BP reduction after 3 months and frequency of major adverse cardiovascular events (HR, 0.75 [95% CI, 0.58 to 0.97] per 10 mm Hg 24-hour systolic ambulatory BP reduction). Conclusions Based on these observational data, blood pressure response to renal sympathetic denervation is associated with improved long-term clinical outcome.

18.
J Am Heart Assoc ; 10(20): e021150, 2021 10 19.
Artigo em Inglês | MEDLINE | ID: mdl-34622680

RESUMO

Background Little is known about the impact of center volume on outcomes in acute myocardial infarction complicated by cardiogenic shock. The aim of this study was to investigate the association between center volume, treatment strategies, and subsequent outcome in patients with acute myocardial infarction complicated by cardiogenic shock. Methods and Results In this subanalysis of the randomized CULPRIT-SHOCK (Culprit Lesion Only PCI Versus Multivessel PCI in Cardiogenic Shock) trial, study sites were categorized based on the annual volume of acute myocardial infarction complicated by cardiogenic shock into low-/intermediate-/high-volume centers (<50; 50-100; and >100 cases/y). Subjects from the study/compulsory registry with available volume data were included. Baseline/procedural characteristics, overall treatment, and 1-year all-cause mortality were compared across categories. n=1032 patients were included in this study (537 treated at low-volume, 240 at intermediate-volume, and 255 at high-volume centers). Baseline risk profile of patients across the volume categories was similar, although high-volume centers included a larger number of older patients. Low-/intermediate-volume centers had more resuscitated patients (57.5%/58.8% versus 42.2%; P<0.01), and more patients on mechanical ventilation in comparison to high-volume centers. There were no differences in reperfusion success despite considerable differences in adjunctive pharmacological/device therapies. There was no difference in 1-year all-cause mortality across volume categories (51.1% versus 56.5% versus 54.4%; P=0.34). Conclusions In this study of patients with acute myocardial infarction complicated by cardiogenic shock, considerable differences in adjunctive medical and mechanical support therapies were observed. However, we could not detect an impact of center volume on reperfusion success or mortality.

19.
Eur J Hum Genet ; 2021 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-34629465

RESUMO

Variants in transcription factor p63 have been linked to several autosomal dominantly inherited malformation syndromes. These disorders show overlapping phenotypic characteristics with various combinations of the following features: ectodermal dysplasia, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypoplastic breasts and/or nipples, ankyloblepharon filiforme adnatum, hypospadias and cleft lip/palate. We describe a family with six individuals presenting with a striking novel phenotype characterized by a furrowed or cleft tongue, a narrow face, reddish hair, freckles and various foot deformities. Whole-exome sequencing (WES) identified a novel heterozygous variant, c.3G>T, in TP63 affecting the translation initiation codon (p.1Met?). Sanger sequencing confirmed dominant inheritance of this unique variant in all six affected family members. In summary, our findings indicate that heterozygous variants in TP63 affecting the first translation initiation codon result in a novel phenotype dominated by a cleft tongue, expanding the complex genotypic and phenotypic spectrum of TP63-associated disorders.

20.
Mol Cell Pediatr ; 8(1): 13, 2021 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-34608560

RESUMO

INTRODUCTION: DSTYK encodes dual serine/threonine and tyrosine protein kinase. DSTYK has been associated with autosomal-dominant congenital anomalies of the kidney and urinary tract and with autosomal-recessive hereditary spastic paraplegia type 23. Here, we report a father and his two dizygotic twin sons carrying a novel heterozygous missense variant in DSTYK, presenting with early onset lower urinary tract dysfunction due to dysfunctional voiding. Moreover, in the later course of the disease, both sons presented with bilateral spasticity in their lower limbs, brisk reflexes, and absence seizures. MATERIALS AND METHODS: Exome sequencing in the affected father and his affected sons was performed. The sons presented clinically with urinary hesitancy, dysfunctional voiding, and night incontinence till adolescence, while the father reported difficulty in voiding. In the sons, cystoscopy excluded urethral valves and revealed hypertrophy of the bladder neck and trabeculated bladder. Additionally, both sons were diagnosed with absence epilepsy in early childhood. Filtering of exome data focused on rare (MAF < 0.01%), autosomal-dominant variants, predicted to be deleterious, residing in highly conserved regions of the exome. RESULTS: Exome analysis identified a novel, heterozygous missense variant (c.271C>A (p.Leu91Met)) in DSTYK segregating with the disease. In silico prediction analyses uniformly rated the variant to be deleterious suggesting the variant to be disease-causing in the family. CONCLUSION: To the best of our knowledge, this is the first report of early onset dysfunctional voiding, seizures, and bilateral spasticity of the lower limbs associated with a novel heterozygous dominant missense variant in DSTYK.

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