Effect of UNOS policy change and exception status request on outcomes in patients bridged to heart transplant with an intra-aortic balloon pump.

BACKGROUND: Intra-aortic balloon pumps (IABP) are used to bridge select end-stage heart disease patients to heart transplant (HT). IABP use and exception requests both increased dramatically after the UNOS policy change (PC). The purpose of this study was to evaluate the effect of PC and exception status requests on waitlist and post-transplant outcomes in patients bridged to HT with IABP support. METHODS: We analyzed adult, first-time, single-organ HT recipients from the UNOS Registry either on IABP at the time of registration for HT or at the time of HT. We compared waitlist and post-HT outcomes between patients from the PRE (October 18, 2016 to May 30, 2018) and POST (October 18, 2018 to May 30, 2020) eras using Kaplan-Meier curves and time-to-event analyses. RESULTS: A total of 1267 patients underwent HT from IABP (261 pre-policy/1006 post-policy). On multivariate analysis, PC was associated with an increase in HT (sub-distribution hazard ratio (sdHR): 2.15, p < .001) and decrease in death/deterioration (sdHR: 0.55, p = .011) on the waitlist with no effect on 1-year post-HT survival (p = .8). The exception status of patients undergoing HT was predominantly seen in the POST era (29%, 293/1006); only four patients in the PRE era. Exception requests in the POST era did not alter patient outcomes. CONCLUSIONS: In patients bridged to heart transplant with an IABP, policy change is associated with decreased rates of death/deterioration and increased rates of heart transplantation on the waitlist without affecting 1-year post-transplant survival. While exception status use has markedly increased post-PC, it is not associated with patient outcomes.

Early onset of deep sternal wound infection after cardiac surgery is associated with decreased survival: A propensity weighted analysis.

OBJECTIVES: To compare outcomes after the development of early (≤30 days) versus delayed (>30 days) deep sternal wound infection (DSWI) after cardiac surgery. METHODS: Between 2005 and 2016, 64 patients were treated surgically for DSWI following cardiac surgery. Thirty-three developed early DSWI, while 31 developed late DSWI. The mean follow-up was 34.1 ± 32.3 months. RESULTS: Survival for the entire cohort at 1, 3, and 5 years was 93.9%, 85.1%, and 80.8%, respectively. DSWI diagnosed early and attempted medical management was strongly associated with overall mortality (hazard ratio [HR], 25.0 and 9.9; 95% confidence intervals [CIs], 1.18-52.8 and 1.28-76.5; p-value .04 and .04, respectively). Survival was 88.1%, 77.0%, 70.6% and 100%, 94.0% and 94.0% at 1, 3, and 5 years in the early and late DSWI groups, respectively (log-rank = 0.074). Those diagnosed early were more likely to have a positive wound culture (odds ratio [OR], 0.06; 95% CI, 0.01-0.69; p = .024) and diagnosed late were more likely to be female (OR, 8.75; 95% CI, 2.0-38.4; p = .004) and require an urgent DSWI procedure (OR, 9.25; 95% CI, 1.86-45.9; p = .007). Both early diagnosis of DSWI and initial attempted medial management were strongly associated with mortality (HR, 7.48; 95% CI, 1.38-40.4; p = .019 and HR, 7.76; 95% CI, 1.67-35.9; p = .009, respectively). CONCLUSIONS: Early aggressive surgical therapy for DSWI after cardiac surgery results in excellent outcomes. Those diagnosed with DSWI early and who have failed initial medical management have increased mortality.

Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.

Congenital disorders of glycosylation (CDGs) are a group of genetic diseases caused by mutations in genes that are necessary for the addition of oligosaccharides to acceptor proteins or lipids. An early step in this process requires dolichol kinase (DK) to catalyze the formation of dolichyl phosphate, which acts as a membrane anchor for initial attachment of sugar residues that are subsequently built up to oligosaccharides and transferred to acceptor proteins and lipids for further processing. Biallelic mutations in DOLK, the gene for DK, result in human in a CDG with variable symptoms, ranging from nonsyndromic dilated cardiomypopathy to severe multiorgan involvement. We report two female siblings with novel compound heterozygous mutations in DOLK: c.951C>A (p.Tyr317Ter) and c.1558A>G (p.Thr520Ala). Both patients presented in the neonatal period with severe ichthyosis, unusual distal digital constrictions and dilated cardiomyopathy which resulted in death. Histology of the skin showed lipid droplet accumulation in the stratum corneum and keratinocytes, which suggests defective epidermal lipid metabolism. These patients represent an earlier and more severe form of DOLK-CDG (CDG-1m) with a striking presentation at birth that expands the known phenotypic spectrum.

Morbidity and Mortality in Adult Congenital Heart Surgery: Physiologic Component Augments Risk Prediction.

BACKGROUND: We sought to evaluate whether the anatomic and physiologic stratification system (ACAP score), released as part of the American College of Cardiology/American Heart Association updated guidelines for management of adult congenital heart disease (ACHD) in 2018, better estimated mortality and morbidity after cardiac operations for ACHD. METHODS: The ACAP score was determined for 318 patients (age ≥18 years) with ACHD undergoing heart surgery at our institution between December 2001 and August 2019. The primary end point was perioperative mortality. The secondary aim was to evaluate the performance of the ACAP, The Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery (STAT) Congenital Heart Surgery Mortality Categories, and ACHS mortality scores/categories at predicting a composite adverse outcome of perioperative mortality, prolonged ventilation, and renal failure requiring replacement therapy. Logistic regression models were built to estimate mortality and the composite outcome using anatomic and physiologic components independently and together. Receiver operating characteristic curves were created, and area under the curves were compared using the Delong test. RESULTS: The median age was 37 years (interquartile range, 26.3-50.0 years). There were 9 perioperative mortalities (2.8%). With respect to perioperative mortality, the area under the curve using the anatomic component only was 0.74, which improved to 0.81 after including physiologic severity (P = .05). When physiologic severity was added to the model for the composite outcome, the discriminatory abilities of the ACHS mortality score and the STAT categories increased significantly to 0.83 (95% CI, 0.75-0.91; P = .02) and 0.82 (95% CI, 0.73-0.90; P = .04), comparable to the predictive power of ACAP. CONCLUSIONS: Physiologic severity augments ability to predict mortality and morbidity after cardiac surgery for ACHD. There is need for more robust ACHD-specific risk models.

Ten-Year Follow-Up of Mitral Valve Replacement With the Epic Porcine Valve in a Medicare Population.

BACKGROUND: Bioprosthetic surgical mitral valve replacement (SMVR) remains an important treatment option in the era of transcatheter valve interventions. This study presents 10-year clinical outcomes of Medicare beneficiaries who underwent SMVR with a contemporary low-profile mitral porcine valve. METHODS: This was a single-arm observational study using Medicare fee-for-service claims data. Deidentified patients undergoing SMVR with the Epic mitral valve (Abbott) in the United States between January 1, 2008 and December 31, 2019 were selected by International Classification of Diseases, Ninth and Tenth Revision procedure codes and then linked to a manufacturer device tracking database. All-cause mortality, heart failure (HF) rehospitalization, and mitral valve reintervention (surgical or transcatheter valve-in-valve) were evaluated at 10 years by using the Kaplan-Meier method. RESULTS: Among 75,739 Medicare beneficiaries undergoing SMVR during the study period, 14,015 received the Epic mitral valve (Abbott), 76.5% (10,720) of whom had underlying HF. The mean age was 74 ± 8 years. Survival at 10 years in patients without preoperative HF was 40.4% (95% CI, 37.4%-43.4%) compared with 25.4% (95% CI ,23.8%-27.0%) for patients with HF (P < .001). The 10-year freedom from HF rehospitalization was 51.3% (95% CI, 49.4%-53.1%). Freedom from mitral valve reintervention was 91.4% (95% CI, 89.7%-92.7%) at 10 years. CONCLUSIONS: This real-world nationwide study of Medicare beneficiaries receiving the Epic mitral valve demonstrates >90% freedom from all-cause valve reintervention and >50% freedom from HF rehospitalization at 10 years after implantation. Long-term survival and HF rehospitalization in this population with mitral valve disease treated with SMVR was found to be affected by underlying HF.

Mid-term outcomes of the COMMENCE trial investigating mitral valve replacement using a bioprosthesis with a novel tissue.

Objective: Novel tissue leaflets (RESILIA tissue) may improve durability of bioprosthetic heart valves. The COMMENCE trial is an ongoing prospective study to evaluate valve replacement using RESILIA tissue. This report describes mid-term outcomes in the mitral cohort of COMMENCE. Methods: Adult patients requiring mitral valve replacement were enrolled in a prospective, single-arm trial at 17 sites in the United States and Canada. An independent clinical events committee adjudicated safety events using definitions from established guidelines, and hemodynamic performance was evaluated by an independent echocardiographic core laboratory. Results: Eighty-two patients (median age 70 years) successfully underwent mitral valve replacement with the study valve. Five-year event-free probabilities for all-cause mortality, structural valve deterioration, and reoperation were 79.9%, 98.7%, and 97.1%, respectively. Hemodynamic valve function measurements were stable through the 5-year follow-up period; valvular leaks were infrequently observed and primarily clinically insignificant/mild. Conclusions: Mitral valve replacement patients implanted with a RESILIA tissue bioprosthesis had a good safety profile and clinically stable hemodynamic performance.

Long-term outcomes with the pulmonary autograft inclusion technique in adults with bicuspid aortic valves undergoing the Ross procedure.

OBJECTIVE: To compare outcomes with wrapped (pulmonary autograft inclusion) versus unwrapped techniques in adults with bicuspid aortic valves undergoing the Ross procedure. METHODS: Between 1992 and 2019, 129 adults with bicuspid aortic valves (aged ≥18 years) underwent the Ross procedure by a single surgeon. Patients were divided into those without autograft inclusion (unwrapped, n = 71) and those with autograft inclusion (wrapped, n = 58). Median follow-up was 10.3 years (interquartile range, 3.0-16.8 years). Need for autograft reintervention was analyzed using competing risks. RESULTS: Pre- and intraoperative characteristics as well as 30-day morbidity or mortality did not differ between cohorts. Survival at 1, 5, and 10 years, respectively, was 97.2%, 97.2%, and 95.6% in the unwrapped cohort and 100%, 100%, and 100% in the wrapped cohort (P = .15). Autograft valve failure occurred in 25 (35.2%) of the unwrapped and 3 (5.2%) of the wrapped patients. Competing risks analysis demonstrated the wrapped cohort to have a lower need for autograft reintervention (subhazard ratio, 0.28, 95% confidence interval, 0.08-0.91; P = .035). The cumulative incidence of autograft reintervention (death as a competing outcome) at 1, 5, and 10 years, respectively, was 10.2%, 14.9%, and 26.8% in the unwrapped cohort and 4.0%, 4.0%, and 4.0% in the wrapped cohort. CONCLUSIONS: In adults with bicuspid aortic valves, the Ross procedure with pulmonary autograft inclusion stabilizes the aortic root preventing dilatation and reduces the need for reoperation. The autograft inclusion technique allows the Ross procedure to be performed in this population with excellent long-term outcomes.

Breast implants and minimally invasive cardiac surgery: a case series.

INTRODUCTION: The number of women affected by valvular heart disease and the number of women with breast implants are both on the rise. Minimally invasive heart surgery using a limited thoracotomy offers many potential benefits including reduction in blood loss, shorter hospital stay, faster recovery time, decreased pain, and improved cosmesis. Minimally invasive heart surgery often requires access to the second, third, or fourth intercostal space of the anterior chest wall. The presence of a breast implant may interfere with the surgeon's ability to gain adequate exposure for entry to the appropriate intercostal space. We present a case series of 5 women with breast implants who successfully underwent minimally invasive cardiac valve surgery. METHODS: A retrospective review was conducted of all patients with breast implants who underwent minimally invasive cardiac valve surgery at the University of Southern California University Hospital. In each patient, an inframammary incision was performed, facilitating removal of the implant, performance of the cardiac operation, and reimplantation of the implant. RESULTS: Five women with breast implants who underwent minimally invasive cardiac valve surgery were identified; of these, 4 (80%) patients underwent repair of the mitral valve for mitral regurgitation, whereas 1 (20%) underwent an aortic valve replacement for aortic stenosis. Two patients underwent a concomitant maze procedure for atrial fibrillation during the same operation. The median follow-up time was 7.4 months, and the follow-up period ranged from 2 to 12 months. There were no significant postoperative complications such as infection, hematoma, or need for reoperation. CONCLUSIONS: Our series of 5 patients demonstrates that minimally invasive heart surgery performed through an inframammary incision can be safely performed in those with breast implants.

Surgical Resection of a Symptomatic Ascending Aortic Mural Thrombus.

Aortic mural thrombus (AMT) is a rare disease with an unclear optimal treatment strategy. AMT in the ascending aorta is particularly uncommon and is associated with the additional risk of embolization to the brain. Resection of an ascending AMT is particularly challenging given the high risk of thrombus dislodgment during aortic cannulation and cross-clamp application. This case demonstrates successful surgical resection of a symptomatic ascending AMT without the use of hypothermic circulatory arrest, with complete excision of the thrombus and replacement of the abnormal aorta using graft material.

Lack of Awareness of Reimbursement and Compensation Models Among Cardiothoracic Surgery Trainees.

BACKGROUND: The objective of this study was to identify trainee knowledge gaps in reimbursement and compensation, determine the perceived importance of understanding these topics, and to explore if the Thoracic Surgery Curriculum needs additional educational material. METHODS: The Thoracic Surgical Residents Association Executive Committee selected the research proposal and distributed an anonymous electronic survey to 531 Accreditation Council for Graduate Medical Education cardiothoracic surgery trainees. Standard descriptive statistics and regression analyses were performed. RESULTS: One hundred fourteen responses were collected (response rate, 21.5%). Most trainees understood little to none about how attending surgeons are reimbursed (n = 74, 69%). Most trainees reported knowing little or nothing about pay-for-performance compensation (n = 73, 67%), bundled care (n = 82, 75%), or value-based reimbursement (n = 84, 77%). Approximately 20% of trainees were accurate in estimating surgeon reimbursement for 3 common cardiothoracic surgery procedures to within 20% of the true reimbursement value, whereas approximately 30% were accurate to within 50% of the true reimbursement value. No respondent characteristics were found to be associated with a more or less accurate reimbursement response. Additionally 81% of trainees (n = 87) responded that by the conclusion of training, understanding surgeon reimbursement is very important or extremely important and 90% of trainees (n = 95) either somewhat agreed or strongly agreed with including these topics in the Thoracic Surgical Curriculum. CONCLUSIONS: Despite acknowledging the importance of understanding physician compensation and reimbursement, cardiothoracic surgery trainees do not understand how the current models work. This study exemplifies the need for a succinct curriculum in this domain for trainees nationwide.

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges.

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease caused by pathogenic variants in ABCD1 resulting in defective peroxisomal oxidation of very long-chain fatty acids. Most male patients develop adrenal insufficiency and one of two neurologic phenotypes: a rapidly progressive demyelinating disease in mid-childhood (childhood cerebral X-ALD, ccALD) or an adult-onset spastic paraparesis (adrenomyeloneuropathy, AMN). The neurodegenerative course of ccALD can be halted if patients are treated with hematopoietic stem cell transplantation at the earliest onset of white matter disease. Newborn screening for X-ALD can be accomplished by measuring C26:0-lysophosphatidylcholine in dried blood spots. In Nebraska, X-ALD newborn screening was instituted in July 2018. Over a period of 3.3 years, 82,920 newborns were screened with 13 positive infants detected (4 males, 9 females), giving a birth prevalence of 1:10,583 in males and 1:4510 in females. All positive newborns had DNA variants in ABCD1. Lack of genotype-phenotype correlations, absence of predictive biomarkers for ccALD or AMN, and a high proportion of ABCD1 variants of uncertain significance are unique challenges in counseling families. Surveillance testing for adrenal and neurologic disease in presymptomatic X-ALD males will improve survival and overall quality of life.

Thoracic aortic stent-grafting for acute, complicated, type B aortic dissections.

BACKGROUND: To report a single-center experience of aortic stent-grafting for the treatment of acute, complicated, type B aortic dissections. METHODS: A retrospective review was conducted of the data obtained from all patients who underwent endovascular stent-grafting for acute, type B aortic dissection between 2006 and 2009. The primary and secondary endpoints were 30-day mortality and morbidity rates, respectively. RESULTS: In all, 104 thoracic endovascular aortic aneurysm repairs were performed during the study period. Nine (8.6%) patients (six men; mean age: 65 years) underwent thoracic endovascular aortic aneurysm repair for acute, complicated, type B aortic dissections. Seven (78%) patients had uncontrolled hypertension on presentation. Visceral branch vessel involvement of the dissection was limited to the celiac axis origin in one patient with no evidence of visceral malperfusion. The indication for repair was aortic rupture in five patients, renal malperfusion in two, and persistent pain in the remaining two. Average time taken from presentation to surgery was 5.5 days. Two patients presenting with aortic ruptures had retrograde extension of the dissection that required replacement of the aortic valve and ascending aorta. The mean length of thoracic aorta covered was 21 cm. Complete coverage of the left subclavian artery was required in three patients and partial coverage in two. On completion angiogram, two type I endoleaks were detected, one of which was resolved by postoperative day 5. The 30-day mortality rate was 22%. One mortality was secondary to aortic rupture. The other mortality was due to multiorgan system failure. Seven patients (78%) had one or more major complications. There were no strokes or paraplegia. CONCLUSION: The association of morbidity and mortality with endovascular stent-grafting for acute, complicated, type B aortic dissections is significant, which most likely reflects the lethal nature of the disease. The precise role of endovascular treatment in these patients remains to be defined.

The Ross procedure utilizing the pulmonary autograft inclusion technique in adults.

A retrospective cohort study was conducted in which 129 adult patients with bicuspid aortic valves underwent the Ross procedure with either a standard root inclusion technique or a modified technique whereby the pulmonary autograft is wrapped in a vascular conduit. Primary outcomes were survival and the need for pulmonary autograft reintervention. Competing risk analysis demonstrated the wrapped technique reduced pulmonary autograft reintervention.

Perimembranous ventricular septal defect and Gerbode defect.

A 27-year-old male presented with a known history of congenital ventricular septal defect (VSD). A Gerbode-type defect was discovered intraoperatively that was originally misinterpreted as pulmonary hypertension. The case report will review the Gerbode defect and the transesophageal echocardiography findings. It is important, in patients with history of perimembranous VSD, to consider Gerbode-type defect when the tricuspid regurgitation jet velocity is high.

Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks.

BACKGROUND: Neural tube defects (NTDs) are the second most common complex birth defect, yet, our understanding of the genetic contribution to their development remains incomplete. Two environmental factors associated with NTDs are Folate and One Carbon Metabolism (FOCM) and Glucose Homeostasis and Oxidative Stress (GHOS). Utilizing next-generation sequencing of a large patient cohort, we identify novel candidate genes in these two networks to provide insights into NTD mechanisms. METHODS: Exome sequencing (ES) was performed in 511 patients, born with myelomeningocele, divided between European American and Mexican American ethnicities. Healthy control data from the Genome Aggregation database were ethnically matched and used as controls. Rare, high fidelity, nonsynonymous predicted damaging missense, nonsense, or canonical splice site variants in independently generated candidate gene lists for FOCM and GHOS were identified. We used a gene-based collapsing approach to quantify mutational burden in case and controls, with the control cohort estimated using cumulative allele frequencies assuming Hardy-Weinberg equilibrium. RESULTS: We identified 45 of 837 genes in the FOCM network and 22 of 568 genes in the GHOS network as possible NTD risk genes with p < 0.05. No nominally significant risk genes were shared between ethnicities. Using a novel approach to mutational burden we identify 55 novel NTD risk associations. CONCLUSIONS: We provide a means of utilizing large publicly available sequencing datasets as controls for sequencing projects examining rare disease. This approach confirmed existing risk genes for myelomeningocele and identified possible novel risk genes. Lastly, it suggests possible distinct genetic etiologies for this malformation between different ethnicities.

Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients.

Genes in the noncanonical WNT signaling pathway controlling planar cell polarity have been linked to the neural tube defect myelomeningocele. We hypothesized that some genes in the WNT signaling network have a higher mutational burden in myelomeningocele subjects than in reference subjects in gnomAD. Exome sequencing data from 511 myelomeningocele subjects was obtained in-house and data from 29,940 ethnically matched subjects was provided by version 2 of the publicly available Genome Aggregation Database. To compare mutational burden, we collapsed rare deleterious variants across each of 523 human WNT signaling genes in case and reference populations. Ten WNT signaling genes were disrupted with a higher mutational burden among Mexican American myelomeningocele subjects compared to reference subjects (Fishers exact test, P ≤ 0.05) and seven different genes were disrupted among individuals of European ancestry compared to reference subjects. Gene ontology enrichment analyses indicate that genes disrupted only in the Mexican American population play a role in planar cell polarity whereas genes identified in both populations are important for the regulation of canonical WNT signaling. In summary, evidence for WNT signaling genes that may contribute to myelomeningocele in humans is presented and discussed.

Cardiovascular Computed Tomographic Angiography as a Virtual Patient Avatar for Individualized Surgical Planning of Complex Anomalous Coronary Artery Anatomy.

Cardiovascular computed tomographic angiography (CCTA) 3-D thoracic reconstruction can serve as a "virtual patient avatar" providing surgical views for approach to complex anomalous coronary artery anatomy. Images demonstrated a single coronary artery ostium arising from the right aortic sinus with trifurcation into a prepulmonic left anterior descending coronary artery (LAD), an interarterial circumflex with a subsequent intraseptal course, and normal course of the right coronary artery. Virtual 3-D CCTA reconstructions were important to planning an incisional plane for surgical correction.

The Development of a Novel Perfused Cadaver Model With Dynamic Vital Sign Regulation and Real-World Scenarios to Teach Surgical Skills and Error Management.

The landscape of graduate medical education has changed dramatically over the past decade and the traditional apprenticeship model has undergone scrutiny and modifications. The mandate of the 80-hour work-week, the introduction of integrated residency programs, increased global awareness about patient safety along with financial constraints have spurred changes in graduate educational practices. In addition, new technologies, more complex procedures, and a host of external constraints have changed where and how we teach technical and procedural skills. Simulation-based training has been embraced by the surgical community and has quickly become an essential component of most residency programs as a method to add efficacy to the traditional learning model. The purpose of this paper is twofold: (1) to describe the development of a perfused cadaver model with dynamic vital sign regulation, and (2) to assess the impact of a curriculum using this model and real world scenarios to teach surgical skills and error management. By providing a realistic training environment our aim is to enhance the acquisition of surgical skills and provide a more thorough assessment of resident performance. Twenty-six learners participated in the scenarios. Qualitative data showed that participants felt that the simulation model was realistic, and that participating in the scenarios helped them gain new knowledge, learn new surgical techniques and increase their confidence performing the skill in a clinical setting. Identifying the importance of both technical and nontechnical skills in surgical education has hastened the need for more realistic simulators and environments in which they are placed. Team members should be able to interact in ways that allow for a global display of their skills thus helping to provide a more comprehensive assessment by faculty and learners.

Resection of Metastatic Hepatocellular Carcinoma in the Ventricular Septum Causing Left Ventricular Outflow Tract Obstruction.

Isolated cardiac involvement of recurrent metastatic hepatocellular carcinoma (HCC) is extremely rare. We report a patient with left ventricular outflow tract (LVOT) obstruction due to isolated recurrent HCC involving the interventricular septum (IVS). A ventriculotomy with resection of the tumor and patch repair of the IVS was performed with successful relief of LVOT obstruction. The patient was discharged home 6 days later symptom-free.