Long-term Outcome Of Adult Patients Research Articles

Characteristics of Enterococcus species bloodstream infections among adults with and without onco-hematological malignancies: Experiences from the national center of Hungary.

Over the past decade, enterococcal bloodstream infection (BSI) shows increasing incidence globally among the elderly and in patients with comorbidities. In this study, we aimed to assess microbiological and clinical characteristics and long-term outcomes of BSIs caused by Enterococcus spp. in adult patients with and without active onco-hematological malignancies hospitalized at a national referral institute. A prospective analysis of consecutive enterococcal BSI cases was conducted in the National Institute of Hematology and Infectious Diseases (Budapest, Hungary) between December 2019 and April 2022. We compared characteristics and outcomes at 30-days and 1 year afterdiagnosis among patients with and without onco-hematological malignancies. In total, 141patients were included (median age 68 ± 21 years, female sex 36.9%), 37% (52/141) had active onco-hematological malignancies. The distribution of species was as follows: 50.4% Enterococcus faecalis, 46.1% Enterococcus faecium, 1.4% Enterococcus avium and Enterococcus gallinarum, and 0.7% Enterococcus raffinosus. No statistically significant differences in all-cause mortality rates were observed between patient subgroups at 30 days (32.7 vs. 28.1%; P = 0.57) and 1 year (75.0 vs. 60.7%; P = 0.09). Enterococcal bloodstream infections yielded a relevant burden of morbidity, but with nostatistical difference in long-term outcomes of adult patients with and without active onco-hematological malignancies.

Abstract WP221: Vein of Galen Malformations: Twenty Years Later

Introduction: Vein of Galen Malformations (VOGM) are congenital arteriovenous malformations which carry a mortality of 76.7% in untreated patients. Outcomes have improved over time with advances in endovascular embolization. As endovascular management of VOGM has begun to favor more aggressive treatment strategies, there is scarce literature examining long-term functional and neurological outcomes and whether patients may have benefited from a more or less aggressive approach to treatment. Methods: A single-center retrospective review identified all patients with VOGM over the age of 18 with complete clinical data from January 1982 to May 2005. Patients were stratified based on radiographic outcomes: cured before the age of 18 (“pediatric-cured group”), cured after the age of 18, or not cured. Patients cured after the age of 18 and patients who were never cured were grouped together (“adult-cured group”). Long-term functional outcomes were assessed using the modified Rankin Scale (mRS). Statistical analyses were conducted in R version 4.2.1. Results: Forty-three adult patients were identified: 26 in the pediatric-cured group and 17 in the adult-cured group. The median current age of the pediatric-cured group was less than the adult-cured group (21 vs. 28, p<0.01). On initial presentation, the groups did not differ in their clinical or radiographic symptoms, comorbidities, or developmental delays. No significant differences were present in treatment courses. The pediatric-cured group demonstrated lower risk of intraprocedural or postprocedural hemorrhagic complications (p=0.03). On long-term follow-up, adult-cured patients presented with worse mRS (p<0.01), a higher rate of neurological symptoms (p<0.01), persistent fine motor delays (p<0.03), persistent cognitive or learning deficits (p=0.04), and persistent hydrogenous disorder (p<0.01). Conclusion: This is the first study to analyze long-term outcomes of adult patients managed for VOGM during the pediatric period. Patients cured in the pediatric period demonstrated reduced risk of hemorrhagic complications and improved long-term functional and neurological outcomes. Pursuing early cure in patients with VOGM may provide long-term benefit and reduce risk in later treatment.

The Role of Tumor-Associated Hypothalamic Involvement in Surgical Treatment and Long-Term Outcome in Adult Patients with Craniopharyngioma

IntroductionHypothalamic invasion in pediatric patients with craniopharyngioma negatively influences clinical outcomes. It has been demonstrated that radiological classification of hypothalamic invasion can effectively predict surgical strategies to minimize postoperative comorbidities in pediatric patients 1. However, no comparative analysis has been performed in adult craniopharyngioma patients. This study implements the previously established radiological classification to characterize postoperative morbidity, surgical outcome, and distress in adult craniopharyngioma patients. MethodsElectronic medical records of 22 adult craniopharyngioma patients were used to analyze patient demographics, surgical data, endocrinological and ophthalmological status and histopathology in a retrospective, single center study. Questionnaires regarding postoperative distress (NCCN Distress Thermometer and Problem List), comorbidities (Charlston Comorbidity Index (CCI), employment status and need for supportive care were distributed. MRI scans were categorized according to Puget et al. ResultsPatients with hypothalamic involvement display significantly higher rates of postoperative Diabetes Inspidus and higher scores on the NCCN Distress. This significant difference was lost when considering postoperative Puget grades. Puget grades 1 and 2 were found to be associated with use of subfrontal surgical approach (HR 4.080 [CI 1.153-14.431]; p = 0.029). ConclusionOur results point towards a possible predictive role of preoperative hypothalamic invasion for postoperative diabetes insipidus as well as higher perceived levels of distress following surgery which may be established in larger patient cohorts. Furthermore, a subfrontal surgical approach appears to be predicted by tumors with hypothalamic invasion. In this case, preoperative MRI grading may help guide planning of an optimal surgical strategy for adults with craniopharyngioma to reduce postoperative morbidity.

Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome

CSNK2B encodes a regulatory subunit of casein kinase II, which is highly expressed in the brain. Heterozygous pathogenic variants in CSNK2B are associated with Poirier–Bienvenu neurodevelopmental syndrome (POBINDS) (OMIM #618732), characterized by facial dysmorphisms, seizures, intellectual disability, and behavioral disturbances.We report ten new patients with CSNK2B-related Neurodevelopmental Syndrome associated with heterozygous variants of CSNK2B. In three patients, a pathogenic variant was inherited from an affected parent. We describe both molecular and clinical features, focusing on epileptic and neurodevelopmental phenotypes. The median age at follow-up was 8.5 years (range 21 months–42 years). All patients had epilepsy, with onset at a median age of 10.5 months range 6 days–10 years). Seizures were both focal and generalized and were resistant to anti-seizure medications in two out of ten patients. Six patients had mild to moderate cognitive delays, whereas four patients had no cognitive disability.Although all previously reported patients had a de novo CSNK2B pathogenic variant, here we report, for the first time, two familial cases of CSNK2B-related Neurodevelopmental Syndrome. We confirmed the highly variable expressivity of the disease among both interfamilial and intrafamilial cases. Furthermore, this study provides information about the long-term outcome in adult patients and underlines the importance of detailed family history collection before performing genetic testing in patients with epilepsy and neurodevelopmental disorders.

Long-term treatment outcomes of temozolomide-based chemoradiation in patients with adult-type diffuse IDH-mutant grade 2 astrocytoma

PurposeTo report the long-term outcomes in adult patients with grade 2 IDH-mutant astrocytoma treated with temozolomide (TMZ)-based chemoradiation. Methods: One hundred and three patients with histologically proven grade 2 astrocytoma received radiation therapy (RT), 50.4–54 Gy in 1.8 Gy fractions, and adjuvant TMZ up to 12 cycles. Fifty-two patients received RT at the time of tumor progression and 51 in the early postoperative period for the presence of at least one high-risk feature (age > 40 years, preoperative tumor size > 5 cm, large postoperative residual tumor, tumor crossing the midline, or presence of neurological symptoms). Overall survival (OS) and progression-free survival (PFS) were calculated from the time of diagnosis.ResultsWith a median follow-up time of 9.0 years (range, 1.3–15 years), median PFS and OS times were 9 years (95%CI, 6.6–10.3) and 11.8 years (95%CI, 9.3–13.4), respectively. Median PFS was 10.6 years in the early treatment group and 6 years in delayed treatment group (hazard ratio (HR) 0.30; 95%CI 0.16–0.59; p = 0.0005); however, OS was not significantly different between groups (12.8 vs. 10.4 years; HR 0.64; 95%CI 0.33–1.25; p = 0.23). Extent of resection, KPS, and small residual disease were associated with OS, with postoperative tumor ≤ 1 cc that emerged as the strongest independent predictor (HR: 0.27; 95%CI 0.08–0.87; p = 0.01).ConclusionsTMZ-based chemoradiation is associated with survival benefit in patients with grade 2 IDH-mutant astrocytoma. For this group of patients, chemoradiation can be deferred until time of progression in younger patients receiving extensive resection, while early treatment should be recommended in high-risk patients.

Long-Term outcomes in adult patients with congenital heart disease considered for transplantation: A single center study.

Adult congenital heart disease (ACHD) patients pose unique challenges in identifying the time for transplantation and factors influencing outcomes. To identify hemodynamic, functional, and laboratory parameters that correlate with 1- and 10-year outcomes in ACHD patients considered for transplantation. A retrospective chart review of long-term outcomes in adult patients with congenital heart disease (CHD) evaluated for heart or heart + additional organ transplant between 2004 and 2014 at our center was performed. A machine learning decision tree model was used to evaluate multiple clinical parameters correlating with 1- and 10-year survival. We identified 58 patients meeting criteria. D-transposition of the great arteries (D-TGA) with atrial switch operation (20.7%), tetralogy of Fallot/pulmonary atresia (15.5%), and tricuspid atresia (13.8%) were the most common diagnosis for transplant. Single ventricle patients were most likely to be listed for transplantation (39.8% of evaluated patients). Among a comprehensive list of clinical factors, invasive hemodynamic parameters (pulmonary capillary wedge pressure (PCWP), systemic vascular pressure (SVP), and end diastolic pressures (EDP) most correlated with 1- and 10-year outcomes. Transplanted patients with SVP<14 and non- transplanted patients with PCWP<15 had 100% survival 1-year post-transplantation. For the first time, our study identifies that hemodynamic parameters most strongly correlate with 1- and 10-year outcomes in ACHD patients considered for transplantation, using a data-driven machine learning model.

#6147 BELATACEPT OUTCOMES IN PEDIATRIC KIDNEY TRANSPLANTATION: AN INTERNATIONAL MULTICENTER STUDY

Abstract Background and Aims Belatacept is a co-stimulation blocker associated with better long-term outcomes in adult patients compared to CNI based regimens. Data on its use in older children and young adults are lacking. We are the 1st to report outcomes for 45 pediatric kidney transplant recipients converted to belatacept. Method 45 patients were included from 4 centers (USA and France) between 05/2018 and 12/2021. Patients received an induction with basiliximab (n = 39) or ATG (n = 6). Maintenance immunosuppression included CNI, MMF +/− steroids. Patients’ viral status (EBV, CMV) were monitored monthly and allograft biopsies were performed prior and ∼6 months after starting belatacept. The first 5 belatacept injections were administered at 5 mg/kg/dose (10 mg/kg/dose if early conversion) every 2 weeks, then monthly. CNI were progressively reduced and stopped. MMF doses were also increased at CNI withdrawal. Results Median age at conversion was 17.7 y (range 10.3-20.6). 7/45 patients received an early conversion (median: 1 month post-transplant, IQR 0.5-1.2): 6 patients because of delayed graft function and 1 to avoid CNI toxicity (post-transplant diabetes). 38/45 patients were converted after a median of 4.1 years post-transplant (IQR 1.7-6.0). Conversion indication was based on the need for long term CNI avoidance: either because of toxicity (histology, post-transplant diabetes, tremors; n = 13) or sub-optimal creatinine (n = 12) or to improve adherence (e.g. monthly IV-treatment, n = 13). CNI were withdrawn in 42/45 patients by a median of 2.4 months (IQR 1.4-6.0). GFR was stable or improved over a median follow-up time of 1.6 years (IQR 1.1-2.4), Fig 1 A. Rejection episodes were observed in 10/45 patients (22%) after a median of 10.2 months (IQR 6.1-15.8) and included 7 TCMR, 2 ABMR and 1 mixed rejection. None of these patients were converted early (&amp;lt;3 m), 5 had been converted for non-adherence, 4 had pre-existing DSA and 4 had prior history of rejection. Evolution of GFR in rejectors is shown in Fig 1 B. CNI were reintroduced for 6/10 and belatacept stopped for 3/10. Regarding viral complications, 1 severe BKv nephropathy required the discontinuation of belatacept. All patients were EBV+ at conversion (4 were EBV- at the time of transplant). No EBV replication was observed. Conclusion Selected pediatric kidney recipients benefit from long-term CNI toxicity avoidance, but selection criteria need to be refined to avoid rejection under costimulation blockade.

Complications and Long-Term Outcomes in Adult Patients Undergoing Living Donor Liver Transplantation Because of Fulminant Hepatitis

BackgroundThe present study investigates the complications that may occur during long-term follow-up in patients aged 18 years and older undergoing living donor liver transplantation (LDLT) in our clinic because of fulminant hepatitis. MethodsThe study included patients aged 18 years and older with a minimum survival of 6 months who underwent an LDLT between June 2000 and June 2017. The demographic data of the patients were evaluated in terms of late-term complications. ResultsOf the 240 patients who met the study criteria, 8 (3.3%) underwent LDLT for fulminant hepatitis. The indication for transplantation in patients with fulminant hepatitis was cryptogenic liver hepatitis in 4 patients, acute hepatitis B infection in 2 patients, hemochromatosis in 1 patient, and toxic hepatitis in 1 patient. Of the 240 patients, 65 (27%) undergoing LDLT underwent a liver biopsy for suspected rejection because of an elevation in liver function test results during follow-up. Histopathologic scoring was carried out according to the Banff scoring system. A diagnosis of late acute rejection was made in only 1 of the 8 patients (12.5%) who underwent LDLT for fulminant hepatitis. ConclusionPatients with fulminant hepatitis must be prepared for an LDLT, if available, while waiting for a cadaveric donor. The results of the present study suggest that LDLTs in patients with fulminant hepatitis are safe, and the outcomes are acceptable in terms of survival and complications.

Long-term outcomes of adult patients following surgery for congenital colorectal conditions: analysis of psychosocial functioning

This study aimed to obtain information about the psychosocial functioning of adults with various congenital colorectal conditions (e.g., anorectal malformation, Hirschsprung disease). A research registry of adult patients with colorectal conditions was developed. Items included demographics, medical diagnosis/treatment, and measures of anxiety and depression. Descriptive and inferential statistical approaches were applied to summarize data and determine significant differences in the average scores for depression and anxiety between various groupings of diagnoses, gender, race, and the use of psychotropic medication. Study measures were completed by 131 adults. Depression and anxiety scores were significantly higher for women than men and those self-identified as non-binary (p = 0.012, < 0.001, respectively). No significant differences in depression and anxiety scores were found due to colorectal diagnosis (p > 0.05). Participants who identified as Asian had significantly higher depression scores than participants of other races (p = 0.002); but no significant difference was noted for anxiety scores (p = 0.065). Results suggest that depression and anxiety scores were significantly influenced by gender and race. However, colorectal diagnosis was not a predictor of depression or anxiety. It is important for colorectal providers to be aware of the psychosocial implications of congenital colorectal conditions and consider how to provide adequate support to address patients' psychosocial needs.

Management of patients with dysthyroid optic neuropathy treated with intravenous corticosteroids and/or orbital decompression surgery

PurposeTo assess the characteristics and long-term outcomes of adult patients with dysthyroid optic neuropathy (DON) who underwent orbital decompression surgery and/or received intravenous (IV) methylprednisolone.MethodsRetrospective chart review of 98 eyes of 49 patients who were diagnosed and treated with bilateral DON between 2007 and 2018 at the Department of Ophthalmology and Optometry and Oral and Maxillofacial Surgery of the Medical University of Vienna.ResultsThe mean follow-up period was 4.1 ± 2.7 years. The most common presenting symptoms were eyelid and periorbital swelling (45%) representing active inflammation. Upgaze restriction was the most common clinical finding (73%). At time of diagnosis, the mean clinical activity score was 4 ± 1/4 ± 1 (right/left eye, respectively). Sixty-three percent (31/49) of the patients were treated both with IV methylprednisolone and underwent orbital decompression surgery, 22% (11/49) were treated with IV methylprednisolone alone and 14% (7/49) underwent surgical decompression only. Seventy-one percent (30/42) of the patients underwent 3-wall decompression. The mean reduction of proptosis in patients treated with both IV methylprednisolone and orbital decompression surgery was 4/5 mm. Mean of reduction in proptosis in patients receiving IV methylprednisolone only was 1/0 mm and in patients with surgical decompression only was 5/5 mm. Mean VA was 0.1 ± 0.5/0.1 ± 0.5 logMAR at baseline and 0.05 ± 0.7/0.05 ± 0.7 at final follow-up. In 92% (45/49), VA was preserved or improved at final follow-up.ConclusionsThe majority of patients with DON were treated both with IV corticosteroids and 3-wall decompression surgery. Vision could be successfully preserved in most cases and reduction of proptosis was achieved, especially after orbital decompression surgery.

Long-Term Outcomes in Adult Patients With Pulmonary Hypertension After Percutaneous Closure of Atrial Septal Defects.

Pulmonary hypertension (PH), recently redefined as mean pulmonary arterial pressure >20 mm Hg (PH20), may be observed in patients with atrial septal defects (ASD). We aimed to determine the effect of preprocedural PH20 status on outcomes among patients undergoing ASD closure. Study population was selected from a retrospective registry of adult patients who underwent percutaneous ASD closure from 1998 to 2016 from a single center and had right heart catheterizations during the procedure. The clinical registry was linked to administrative databases to capture short- and long-term outcomes. We included a total of 632 ASD closure patients of whom 359 (56.8%) had PH20. The mean follow-up length was 7.6±4.6 years. Patients with PH20 were older (mean age 56.5 versus 43.1 years, P<0.001) and a higher prevalence of comorbidities including hypertension (54.3% versus 21.6%, P<0.001) and diabetes (18.1% versus 5.9%, P<0.001) than those without PH. In a Cox proportional hazards model after covariate adjustment, patients with PH had a significantly higher risk of developing major adverse cardiac and cerebrovascular events (heart failure, stroke, myocardial infarction, or cardiovascular mortality), with hazards ratio 2.45 (95% CI, 1.4-4.4). When applying the prior, mean pulmonary arterial pressure ≥25 mm Hg (PH25) cutoff, a significantly higher hazard of developing major adverse cardiac and cerebrovascular events was observed in PH versus non-PH patients. ASD patients with PH undergoing closure suffer from more comorbidities and worse long-term major adverse cardiac and cerebrovascular events outcomes, compared with patients without PH. The use of the new PH20 definition potentially dilutes the effect of this serious condition on outcomes in this population.

Early and Long-Term Outcomes after Direct Bridge-to-Transplantation with Extracorporeal Membrane Oxygenation

Veno-arterial extracorporeal membrane oxygenation (VA-ECMO) as direct bridge-to-transplantation (dBTT) remains controversial. We compared the short- and long-term outcomes of adult patients undergoing urgent heart transplantation (HT) with (dBTT) and without (non-BTT) VA-ECMO support at the time of HT. Adults who underwent urgent HT in two institutions were assessed (N = 133; dBTT: N = 34 and non-BTT: N = 99). Patient characteristics, donor characteristics, in-hospital outcomes, and overall survival were compared. Mean follow up was 77±38 months and was 100% complete. Mortality predictors were identified using univariate and multivariate analyses. Before HT, patients with dBTT had higher rates of ischemic cardiomyopathy, acute kidney injury, liver failure, respiratory failure, and longer graft ischemia times. More patients in the dBTT group had complications, such as requiring VA-ECMO postoperatively (dBTT=50% vs. non-BTT=20%, P < 0.01). Hospital deaths (dBTT=23% vs. non-BTT=19%, P = 0.58), one-year (74% vs. 80%) and five-year survival (62% vs. 75%, P = 0.74 for overall survival) were not significantly different. The MELD-XI score and previous cardiac surgery were independent predictors of hospital mortality. Direct bridge-to-transplantation in patients on VA-ECMO support was not associated with worse long-term outcomes compared with non-VA-ECMO urgent HT, especially in recipients without any associated organ failure and a low MELD-XI score before HT.

Prognostic factors of adult tuberculous meningitis in intensive care unit: a single-center retrospective study in East China

BackgroundTuberculous meningitis (TBM) is the most lethal form of tuberculosis worldwide. Data on critically ill TBM patients in the intensive care unit (ICU) of China are lacking. We tried to identify prognostic factors of adult TBM patients admitted to ICU in China.MethodsWe conducted a retrospective study on adult TBM in ICU between January 2008 and April 2018. Factors associated with unfavorable outcomes at 28 days were identified by logistic regression. Factors associated with 1-year mortality were studied by Cox proportional hazards modeling.ResultsEighty adult patients diagnosed with TBM (age 38.5 (18–79) years, 45 (56 %) males) were included in the study. An unfavorable outcome was observed in 39 (49 %) patients and were independently associated with Acute Physiology and Chronic Health Evaluation (APACHE) II > 23 (adjusted odds ratio (aOR) 5.57, 95 % confidence interval (CI) 1.55–19.97), Sequential Organ Failure Assessment (SOFA) > 8 (aOR 9.74, 95 % CI 1.46–64.88), and mechanical ventilation (aOR 18.33, 95 % CI 3.15–106.80). Multivariate Cox regression analysis identified two factors associated with 1-year mortality: APACHE II > 23 (adjusted hazard ratio (aHR) 4.83; 95 % CI 2.21–10.55), and mechanical ventilation (aHR 9.71; 95 % CI 2.31–40.87).ConclusionsFor the most severe adult TBM patients of Medical Research Council (MRC) stage III, common clinical factors aren’t effective enough to predict outcomes. Our study demonstrates that the widely used APACHE II and SOFA scores on admission can be used to predict short-term outcomes, while APACHE II could also be used to predict long-term outcomes of adult patients with TBM in ICU.

Early and Long-Term Outcomes after Direct Bridge-to-Transplantation with Extracorporeal Membrane Oxygenation

Purpose Veno-arterial extracorporeal membrane oxygenation (VA-ECMO) as direct bridge-to-transplantation (dBTT) remains controversial. We compared the short- and long-term outcomes of adult patients undergoing urgent HT with (dBTT) and without (non-BTT) VA-ECMO support at the time of heart transplantation (HT). Methods Adults who underwent urgent HT in two institutions were assessed (n=133; dBTT: n=34 and non-BTT: n=99). Patient characteristics, donor characteristics, in-hospital outcomes, and overall survival were compared. Mean follow-up was 77±38 months and was 100% complete. Mortality predictors were identified using univariate and multivariate analyses. Results Before HT, patients with dBTT had higher rates of ischemic cardiomyopathy, acute kidney injury, liver failure, respiratory failure, and longer graft ischemia times. More patients in the dBTT group required VA-ECMO postoperatively (dBTT=50% vs. non-BTT= 20%, p Conclusion Long-term outcomes were not significantly different between patients undergoing dBTT on VA-ECMO support and patients undergoing urgent HT without VA-ECMO, especially dBTT recipients without any preoperative associated organ failure and a low preoperative MELD-XI score (≤10.5).

Long-term outcomes in adult patients affected with fucosidosis: Psychosis as a new complication

Long-term outcomes in adult patients affected with fucosidosis: Psychosis as a new complication

The impact of neurosurgical technique on the short- and long-term outcomes of adult patients with Chiari I malformation

ObjectiveThis study is aimed to compare and evaluate any differences in clinical and radiological outcomes of different operative techniques of cranio-cervical decompression (CCD) performed in adults with symptomatic Chiari malformation type I (CM-1) within a single tertiary neurosurgical center. MethodsA retrospective review using the Hospital theatre management system (ORSOS) and records of patients who underwent CCD for CM-1 between January 2011 and October 2019 was performed.Patients were divided in three cohorts according to the operative technique used: an extradural osteo-ligamentous decompression (BD), BD followed by dural opening either without duraplasty (DOWD) or plus duroplasty (DOPD). The primary clinical outcome was measured by utilizing the Chicago Chiari Outcome Scale (CCOS). Syrinx outcome was measured on post-op MRI. Statistical analysis was performed using IBM SPSS 24 with α = 0.05. Results67 adults underwent 69 CCD: 10 BD, 29 DOWD and 30 DOPD. Median follow-up was 47.3 months (Interquartile Range (IQR) 26.3–73.7). Patients who underwent DOPD had a shorter median hospital stay (p-value 0.001), fewer unplanned readmissions (p-value 0.015), a higher median CCOS (p-value 0.001) and a lower post-operative complications rate (p-value 0.001) compared to patients who underwent DOWD. BD revealed a 40 % failure rate and was ineffective in cases with syringomyelia. ConclusionBetter clinical outcomes, lower complication risk, and short duration of hospital stay were associated with patients who underwent dural opening with augmentative watertight duraplasty. Bony decompression alone despite being a very safe technique, does not appear to be reliable and effective in controlling and relieving the clinical symptoms and the syringomyelia of adult patients with CM-1.

Long-term outcome of adult patients with total anomalous pulmonary venous connection: data from the SACHER registry and a French center

Abstract Introduction Total anomalous pulmonary venous connection is a rare cyanotic congenital heart disease, where all pulmonary veins aberrantly connect to a systemic vein or the right atrium. The only curative treatment is surgery allowing the patients to reach adulthood. This study describes the long-term outcome of these individuals focusing on arrhythmias. Methods Clinical, surgical, imaging and invasive data were retrospectively reviewed from 7 centers participating in the Swiss Adult Congenital Heart disease Registry (SACHER) and one French center. Results A total of 57 patients were identified and analyzed 22±8 years after surgery. At last follow-up, 21% of patients presented cardiac symptoms, mainly palpitations. No patient had pulmonary hypertension or a relevant valvulopathy. Echocardiography revealed in 5 (8.8%) patients a dilated right ventricle (RV) and in 3 (5.3%) patients a diminished RV systolic function. Exercise capacity was normal in most patients (table). Cardiac magnetic resonance imaging found in 2 (4%) had a residual shunt with an mean Qp:Qs of 1.25, due to a single anomalously connected pulmonary vein. Holter recordings revealed arrhythmias in 23% of patient. Ten (17.5%) had atrial fibrillation, flutter or tachycardia. Three (5%) patients presented ventricular arrhythmias: two patients showed non-sustained ventricular tachycardia and one patient complex ventricular extrasystoles. Four patients (7%) were on antiarrhythmic medication for supraventricular arrhythmias. Three patients (5%) underwent an electrophysiological study with a mean time since surgery of 20 years. Three (5%) patients underwent pacemaker implantation within 3 weeks to 36 months after surgical correction, which were removed in 2 patients after 7 years. Age and the presence of a valvulopathy at follow-up predicted tachyarrhythmia on binomial logistic regression analysis (p&amp;lt;0.03). Conclusions In adult survivors after TAPVC repair, supraventricular but also ventricular arrhythmias are frequently observed which appears to be related to age and valvular lesions at follow-up. This study underlies the importance of long-term follow-up as some of the patients currently without arrhythmia will probably develop rhythm disorders in the future. Funding Acknowledgement Type of funding source: Private grant(s) and/or Sponsorship. Main funding source(s): Unrestricted grant by Actelion SA, Switzerland

Long-term outcome of adult patients with partial anomalous pulmonary venous connection treated surgically and conservatively: data from the SACHER registry and a French center

Abstract Introduction Partial anomalous pulmonary venous connection (PAPVC) is a rare congenital heart disease, which is characterized by one or some but not all pulmonary veins anomalously connected to the right atrium or a systemic vein. PAPVC is either an isolated shunt lesion or associated with an atrial septal defect (ASD). The only curative treatment is surgery, however the indication for surgery can be challenging. This study compares the outcome of patients treated surgically with those clinically monitored. Method Clinical, surgical, imaging and invasive data were retrospectively reviewed from 7 centers from the Swiss Adult Congenital HEart Registry (SACHER) and a French center. Results A total of 168 patients with partial anomalous pulmonary venous connection were identified. The majority (77%) of patients underwent surgery and the remaining (23%) were treated conservatively with clinical monitoring. The operated group (OG) had a significantly higher proportion of associated ASD (N=106, 82%) (p&amp;lt;0.001) and a higher prevalence of anomalous pulmonary veins leading to a mean Qp:Qs at 2.5±1.2 before surgery. Latest follow-up was 12 years after surgery. Mean age was 40±17 years. Patients in the non-operated group (NOG) were significantly more dyspneic than the OG (p=0.002). However, the need for medical treatment did not differ between groups: 58% of the NOG and 48% in the OG (p=0.203). Right ventricular (RV) ejection fraction did not differ between groups despite a significantly larger RV end-diastolic volume and a higher Qp:Qs on cardiac magnetic resonance (CMR) in the NOG (table). On echocardiography, the NOG showed a significantly better right ventricular longitudinal function and a higher systolic pulmonary artery pressure than the OG (table). The prevalence of significant valvulopathies did not differ between groups (table). Both groups had normal exercise capacity and with no differences between groups (table). Eighteen (14%) OG patients required a re-intervention either for residual shunt and/or stenosis of the pulmonary veins, superior and inferior vena cava. Conclusion PAPVC patients after surgical correction, show a favorable outcome in terms of imaging parameters and exercise capacity, however, a significant number presents with symptoms. PAPVC patients treated conservatively with small left to right shunting, have similar outcome justifying a conservative approach. Funding Acknowledgement Type of funding source: Private grant(s) and/or Sponsorship. Main funding source(s): Unrestricted grant from Actelion, Switzerland

Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening.

Background: Homocystinuria (HCU) is a rare inherited metabolic disease. In Japan, newborn screening (NBS) for HCU (cystathionine β-synthase deficiency) was initiated in 1977. We compared the outcomes between patients detected by NBS (NBS group) and clinically detected patients (non-NBS group). Methods: We administered questionnaires about clinical symptoms and social conditions to 16 attending physicians of 19 adult HCU patients treated with methionine-free formula. Results: Eighteen patients (nine patients each in the NBS and non-NBS groups) participated. The frequency of patients with ocular, vascular, central nervous system, and skeletal symptoms in the NBS group was lower than that in the non-NBS group. Intellectual disability was observed in one and eight patients in the NBS and non-NBS groups, respectively. Concerning their social conditions, all patients in the NBS group were employed or still attending school, while only two patients in the non-NBS group were employed. Three of the four patients who discontinued treatment presented some symptoms, even in the NBS group. Conclusion: The social and intellectual outcomes of adult Japanese patients with HCU detected by NBS were favorable. However, even in the patients in the NBS group, some symptoms might not be preventable without continuous treatment.

P0311INFECTION-RELATED GLOMERULONEPHRITIS IN ADULTS: TIME FOR A DEFINITIVE PARADIGM SHIFT?

Abstract Background and Aims The recent decades have witnessed significant changes in the epidemiology and clinical course of infection-related glomerulonephritis (IRGN). We analyzed the clinicopathological features and long-term outcome of adult patients with biopsy-proven IRGN followed in a large Italian referral centre. Method We included patients with biopsy-proven IRGN diagnosed from 2000 to 2018. Clinical and laboratory findings, histological features, possible risk factors and therapy were assessed for both renal and patient outcome. Results Forty-one patients met the inclusion criteria (male:female ratio 3:1, mean age 61±16 years). Smoke habit (47.2%), alcoholism (30.6%), and diabetes (27.5%) were the most common risk factors. The most frequently identified sites of infection were skin, lung and heart (Table 1). Staphylococci spp. accounted for 76.5% of positive cultures (Figure 1). Hypocomplementaemia emerged in 48.5% of cases. The most frequent histologic patterns were diffuse proliferative (56.0%) and membranoproliferative (29.3%) glomerulonephritis. Haemodialysis was required by 22.5% of patients at inception. Two thirds of patients developed chronic kidney disease; half of them reached end-stage renal disease (ESRD). By multivariate analysis ESRD was associated with diabetes (HR 13.7; 95% CI, 1.6-121.0; p=0.018), crescents (HR 25.2; 95% CI, 2.7-235.7; p=0.005), and interstitial fibrosis (HR 31.0; 95% CI, 3.3-287.3; p=0.003). Male gender (HR 12.7; 95% CI, 10.8-14.6; p=0.008) hypertension (HR 40.8; 95% CI, 38.6-43.1; p=0.001), gross haematuria (HR 11.8; 95% CI, 9.4-14.2; p=0.047), need for haemodialysis at onset (HR 16.3; 95% CI, 14.7-17.8; p&amp;lt;0.0001), and interstitial infiltrate (HR 13.3; 95% CI, 11.6-15.0; p=0.003) significantly affected survival. Corticosteroids did not affect prognosis. Conclusion While traditionally considered a “benign” disease with a favorable course in children, IRGN is a potentially severe disease in adults, particularly when a background of major comorbidities and older age are present. A significant proportion of patients does not recover renal function, with a remarkable risk of ESRD.