Outcomes of complex abdominal wall reconstruction in patients with connective tissue disorders: a single center experience.

INTRODUCTION: Individuals diagnosed with connective tissue disorders (CTD) are known to be predisposed to incisional hernia formation. However, there is a scarcity of data on outcomes for these patients undergoing hernia repair. We sought to describe our outcomes in performing abdominal wall reconstructions in these complex patients. METHODS: Adult patients with CTD undergoing open, elective, posterior component separation with permanent synthetic mesh at our institution from January 2018 to October 2022 were queried from a prospectively collected database in the Abdominal Core Health Quality Collaborative. We evaluated 30-day wound morbidity, perioperative complications, long-term hernia recurrence, and patient-reported quality of life. RESULTS: Twelve patients were identified. Connective tissue disorders included Marfan's n = 7 (58.3%), Loeys-Dietz syndrome n = 2 (16.7%), Systemic Lupus Erythematosus n = 2 (16.7%), and Scleroderma n = 1 (8.3%). Prior incisions included three midline laparotomies and nine thoracoabdominal, mean hernia width measured 14 cm, and 9 were recurrent hernias. Surgical site occurrences (SSOs) were observed in 25% of cases, and 16.7% necessitated procedural intervention. All twelve patients were available for long-term follow-up, with a mean of 34 (12-62) months. There were no instances of reoperation or mesh excision related to the TAR procedure. One patient developed a recurrence after having his mesh violated for repair of a new visceral aneurysm. Mean HerQLes scores at 1 year were 70 and 89 at ≥ 2 years; Mean scaled PROMIS scores were 30.7 at 1 year and 36.3 at ≥ 2 years. CONCLUSION: Ventral hernia repair with TAR is feasible in patients with connective tissue disorder and can be a suitable alternative in patients with large complex hernias.

Outcomes of rhegmatogenous retinal detachment surgery in patients with Stickler syndrome.

PURPOSE: Despite recent developments in vitrectomy technology and instrumentation, rhegmatogenous retinal detachment in Stickler syndrome (RDS) remains a challenge for surgeons. RDSs are associated with a higher rate of complications and surgical failures than those not associated with Stickler syndrome. This study is a report about anatomic and visual outcomes of RDS surgery and describes the surgical techniques associated with the treatment of this specific condition. METHODS: This is a retrospective, interventional, consecutive case series of patients with RDS undergoing retinal reattachment surgery from 1990 to 2020 at the Institute of Ocular Microsurgery (IMO) in Barcelona, Spain. RESULTS: Twenty-four eyes of 18 patients with genetically confirmed Stickler syndrome were included in the study. Ten eyes (41.6%) presented a giant retinal tear. Retinal reattachment was achieved in all cases after an average of 1.21 (range 1-6) surgical interventions. Nineteen eyes (79%) required only one operation to achieve complete retinal reattachment. The most common first surgical procedure was a 4-mm scleral buckle with posterior pars plana vitrectomy and silicone oil endotamponade, performed on 16 (66.6%) of the eyes. The mean follow-up period was 10.2 years. Mean preoperative visual acuity LogMar was 1.10 (Snellen equivalent 20/252), which improved to 0.50 (Snellen equivalent 20/63) at final follow-up (p < 0.05). CONCLUSION: In most RDS cases, anatomic success and visual acuity improvement can be achieved with the first surgical procedure, using a combination of silicone oil tamponade and a 4-mm scleral encircling band. In some early cases of RDS, other less invasive surgical techniques can be used.

Outcomes After Endovascular Aortic Intervention in Patients With Connective Tissue Disease.

Importance: Endovascular treatment is not recommended for aortic pathologies in patients with connective tissue diseases (CTDs) other than in redo operations and as bridging procedures in emergencies. However, recent developments in endovascular technology may challenge this dogma. Objective: To assess the midterm outcomes of endovascular aortic repair in patients with CTD. Design, Setting, and Participants: For this descriptive retrospective study, data on demographics, interventions, and short-term and midterm outcomes were collected from 18 aortic centers in Europe, Asia, North America, and New Zealand. Patients with CTD who had undergone endovascular aortic repair from 2005 to 2020 were included. Data were analyzed from December 2021 to November 2022. Exposure: All principal endovascular aortic repairs, including redo surgery and complex repairs of the aortic arch and visceral aorta. Main Outcomes and Measures: Short-term and midterm survival, rates of secondary procedures, and conversion to open repair. Results: In total, 171 patients were included: 142 with Marfan syndrome, 17 with Loeys-Dietz syndrome, and 12 with vascular Ehlers-Danlos syndrome (vEDS). Median (IQR) age was 49.9 years (37.9-59.0), and 107 patients (62.6%) were male. One hundred fifty-two (88.9%) were treated for aortic dissections and 19 (11.1%) for degenerative aneurysms. One hundred thirty-six patients (79.5%) had undergone open aortic surgery before the index endovascular repair. In 74 patients (43.3%), arch and/or visceral branches were included in the repair. Primary technical success was achieved in 168 patients (98.2%), and 30-day mortality was 2.9% (5 patients). Survival at 1 and 5 years was 96.2% and 80.6% for Marfan syndrome, 93.8% and 85.2% for Loeys-Dietz syndrome, and 75.0% and 43.8% for vEDS, respectively. After a median (IQR) follow-up of 4.7 years (1.9-9.2), 91 patients (53.2%) had undergone secondary procedures, of which 14 (8.2%) were open conversions. Conclusions and Relevance: This study found that endovascular aortic interventions, including redo procedures and complex repairs of the aortic arch and visceral aorta, in patients with CTD had a high rate of early technical success, low perioperative mortality, and a midterm survival rate comparable with reports of open aortic surgery in patients with CTD. The rate of secondary procedures was high, but few patients required conversion to open repair. Improvements in devices and techniques, as well as ongoing follow-up, may result in endovascular treatment for patients with CTD being included in guideline recommendations.

Lung Transplantation: A Viable Option for Connective Tissue Disease?

Interstitial lung disease (ILD) and pulmonary hypertension (PH) caused by connective tissue disease (CTD) are one of the main causes of morbidity and death in patients. Although the International Society for Heart & Lung Transplant suggested that ILD and PH related to CTD are rare indications for lung transplantation in 2006, many lung transplantation centers are concerned that the multisystem involvement of CTD will affect survival outcomes after lung transplantation, and CTD is regarded as a relative contraindication for lung transplantation. However, long-term and short-term survival after lung transplantation in CTD patients is similar compared with survival in common indications for lung transplantation such as idiopathic pulmonary fibrosis (IPF), and no higher incidence of complications after transplantation in many lung transplant centers. This suggests that lung transplantation may be beneficial in CTD patients with disease that progresses to end-stage lung disease, and CTD should not be considered a contraindication for lung transplantation. In the future, more prospective studies are needed to analyze the risk factors of lung transplantation in CTD patients to improve survival rates and reduce the risk of complications. This narrative review summarizes the selection and evaluation of candidates for CTD before lung transplantation and describes the clinical outcomes in CTD after lung transplantation in large-capacity lung transplantation center. The purpose of this review is to help rheumatologists decide when to refer patients with CTD-related lung involvement to a lung transplantation center and the conditions to consider before transplantation and to provide confidence to lung transplant experts.

Aortic valve reimplantation in patients with connective tissue disorders: Are the leaflets durable?

OBJECTIVE: The durability of reimplanted myxomatous aortic valves in root replacements for patients with connective tissue disorders (CTD) is unclear; therefore, we sought to evaluate the long-term resilience of these repairs. METHODS: From January 1980 to January 2020, 214 patients with CTD and 645 without CTD underwent primary, elective aortic valve reimplantation operations at Cleveland Clinic. The CTD cohort included 164 (77%) with Marfan, 23 (11%) with Loeys-Dietz, and 7 (3.3%) with Ehlers-Danlos CTD. We accounted for differing patient characteristics between the groups by propensity score matching to compare outcomes, yielding 96 matched pairs. Longitudinal echocardiographic measures were compared using nonlinear mixed effects models. RESULTS: In the CTD cohort, there were no operative mortalities (30-day or in-hospital), 1 (0.47%) stroke, and 1 (0.47%) early in-hospital reoperation for valve dysfunction. Ten-year prevalence of no aortic regurgitation was 86%, mild 11%, and moderate 3%. Ten-year freedom from reoperation was 97%. In propensity matched cohorts, there were no significant differences in in-hospital outcomes, longitudinal aortic regurgitation and mean gradient, risk of reoperation on the aortic valve, or risk of late death. CONCLUSIONS: Aortic valve reimplantation is a durable operation in patients with CTD and root aneurysms. These patients do not experience early degeneration of their reimplanted aortic valves.

Minimally Invasive Beating Heart Mitral Valve Repair in a Patient With Connective Tissue Disease at Prohibitive Risk for Redo Sternotomy.

Sternal reentry when the ascending aorta is adherent to the posterior table of the sternum is associated with substantial risk. A minimally invasive right thoracotomy beating heart approach is an alternative when the aorta cannot be cross-clamped. This report details this technique for a complex reoperative mitral valve repair procedure performed in a patient with connective tissue disease who had required multiple aortic operations and presented with heart failure and severe functional mitral regurgitation.

ISHLT consensus document on lung transplantation in patients with connective tissue disease: Part II: Cardiac, surgical, perioperative, operative, and post-operative challenges and management statements.

Patients with connective tissue disease (CTD) present unique surgical, perioperative, operative, and postoperative challenges related to the often underlying severe pulmonary hypertension and right ventricular dysfunction. The International Society for Heart and Lung Transplantation-supported consensus document on lung transplantation in patients with CTD standardization addresses the surgical challenges and relevant cardiac involvement in the perioperative, operative, and postoperative management in patients with CTD.

Status and Recommendations for Incorporating Biomarkers for Cutaneous Neurofibromas Into Clinical Research.

OBJECTIVE: To summarize existing biomarker data for cutaneous neurofibroma (cNF) and to inform the incorporation of biomarkers into clinical trial design for cNFs. METHODS: The cNF working group, a subgroup of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) consortium, was formed to review and inform clinical trial design for cNFs. Between June 2018 and February 2020, the cNF working group performed a review of existing data on genetic biomarkers for cNFs in the setting of neurofibromatosis type 1. We also reviewed criteria for successful biomarker application in the clinic. The group then held a series of meetings to develop a consensus report. RESULTS: Our systematic literature review of existing data revealed a lack of validated biomarkers for cNFs. In our report, we summarize the existing signaling, genomic, transcriptomic, histopathologic, and proteomic data relevant to cNF. Finally, we make recommendations for incorporating exploratory aims for predictive biomarkers into clinical trials through biobanking samples. CONCLUSION: These recommendations are intended to provide both researchers and clinicians with best practices for clinical trial design to aid in the identification of clinically validated biomarkers for cNF.

Stickler Syndrome: Airway Complications in a Case Series of 502 Patients.

BACKGROUND: Patients with Stickler syndrome often require emergency surgery and are often anesthetized in nonspecialist units, typically for retinal detachment repair. Despite the occurrence of cleft palate and Pierre-Robin sequence, there is little published literature on airway complications. Our aim was to describe anesthetic practice and complications in a nonselected series of Stickler syndrome cases. To our knowledge, this is the largest such series in the published literature. METHODS: We retrospectively identified patients with genetically confirmed Stickler syndrome who had undergone general anesthesia in a major teaching hospital, seeking to identify factors that predicted patients who would require more than 1 attempt to correctly site an endotracheal tube (ETT) or supraglottic airway device (SAD). Patient demographics, associated factors, and anesthetic complications were collected. Descriptive statistical analysis and logistic regression modeling were performed. RESULTS: Five hundred and twoanesthetic events were analyzed. Three hundred ninety-five (92.7%) type 1 Stickler and 63 (96.9%) type 2 Stickler patients could be managed with a single attempt of passing an ETT or SAD. Advanced airway techniques were required on 4 occasions, and we report no major complications. On logistic regression, modeling receding mandible (P = .0004) and history of cleft palate (P = .0004) were significantly associated with the need for more than 1 attempt at airway manipulation. CONCLUSIONS: The majority of Stickler patients can be anesthetized safely with standard management. If patients have a receding mandible or history of cleft, an experienced anesthetist familiar with Stickler syndrome should manage the patient. We recommend that patients identified to have a difficult airway wear an alert bracelet.

Coexistence of Marfan-like Connective Tissue Disease with Morphologic Left Ventricular Non-compaction.

We treated a man with co-incident Marfan-like connective tissue disease with morphologic left ventricular non-compaction (LVNC). He underwent valve-sparing aortic root replacement because of aortic root dilation at 43 years old. Pathological findings of the aorta revealed cystic medio-necrosis, consistent with Marfan syndrome. He developed congestive heart failure caused by LVNC at 47 years old. His daughter had scoliosis, and he had several physical characteristics suggestive of Marfan syndrome. We herein report a rare case of a patient who had Marfan-like connective disease with an LVNC appearance.

Prevalence of Sagging Eye Syndrome in Adults with Binocular Diplopia.

PURPOSE: Sagging eye syndrome (SES), horizontal and/or vertical strabismus caused by orbital connective tissue degeneration, was first defined 10 years ago. This study investigated SES and other causes of acquired binocular diplopia in adults presenting to a single institution since the description of SES. DESIGN: Retrospective observational case series. METHODS: Medical records were reviewed of all new patients over the age of 40 who presented to the Stein Eye Institute with binocular diplopia between January 2015 and December 2018. Clinical causes of diplopia were tabulated in patients grouped by age and sex. In patients with SES, we tabulated binocular alignment, types of treatment, and surgical outcomes. RESULTS: There were 945 patients of mean age 66.5 years, of whom 514 (54.4%) were female. The most common cause of diplopia was SES (31.4%). The 297 patients with SES were older at 71.2 years (P < 0.0001) and more predominantly female at 59.9% than other patients (52.0%; P = 0.023). The relative proportion of SES patients among all diplopic patients increased with age from 4.7% under age 50 years to 60.9% over the age of 90. Age-related distance esotropia was present in 35% and cyclovertical strabismus in 65% of cases of SES. Strabismus surgery was performed in 50% of cases of SES. Mean esotropia at distance decreased from 6.9 ± 0.7Δ preoperatively to 0.3 ± 0.3Δ postoperatively. Preoperative hypertropia decreased from 3.0 ± 0.3Δ to 0.7 ± 0.2Δ postoperatively. Surgery resolved diplopia in all cases. CONCLUSIONS: It is important to recognize that SES is a very common cause of adult binocular diplopia.

Early and Late Results After David vs Bentall Procedure: A Propensity Matched Analysis.

BACKGROUND: The aim of this study was to compare the short- and long-term outcomes of patients who underwent aortic valve-sparing reimplantation (David) vs aortic root replacement (Bentall) operations in a propensity-matched analysis. METHODS: The study compared the data of propensity-matched patients who underwent David (n = 261) or Bentall (n = 262) procedures from 2000 to 2015. The mean age at surgery in the entire cohort was 53 ± 13 years, and 19.7% (n = 103) of the study patients were female. Connective tissue disease was present in 9.4% (n = 49) of patients, whereas 37.1% (n = 194) presented with a bicuspid aortic valve. RESULTS: The overall 30-day mortality was 1.1% (n = 6) and was not significantly different in patients with the David compared with the Bentall operation (0.4% [n = 1] vs 1.9% [n = 5]; P = .1). The 5- and 10-year survival rates were 93.7 ± 1.8% vs 93.8 ± 1.6% and 84.4 ± 4.7% vs 89.5 ± 3.2% for David vs Bentall, respectively (log-rank P = .98). Cox regression analysis identified age, smoking and previous cardiac surgery as independent predictors of long-term mortality. Freedom from reoperation did not significantly differ between patient groups (89.5 ± 3.4% vs 87.8 ± 4.1% 10 years postoperatively; log-rank P = .71). Bentall-treated patients had a higher rate of serious bleeding during follow-up (P = .025). CONCLUSIONS: Both the David and Bentall operations are associated with excellent early and long-term results in patients with aortic root aneurysmal disease. The David operation is associated with less bleeding than the Bentall operation, without an increased risk of reoperation. Because of avoidance of bleeding and other long-term complications associated with prosthetic heart valves, the David operation is preferable to the Bentall operation in patients with appropriate pathoanatomy.

Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up after craniocervical reduction, fusion, and stabilization.

A great deal of literature has drawn attention to the "complex Chiari," wherein the presence of instability or ventral brainstem compression prompts consideration for addressing both concerns at the time of surgery. This report addresses the clinical and radiological features and surgical outcomes in a consecutive series of subjects with hereditary connective tissue disorders (HCTD) and Chiari malformation. In 2011 and 2012, 22 consecutive patients with cervical medullary syndrome and geneticist-confirmed hereditary connective tissue disorder (HCTD), with Chiari malformation (type 1 or 0) and kyphotic clivo-axial angle (CXA) enrolled in the IRB-approved study (IRB# 10-036-06: GBMC). Two subjects were excluded on the basis of previous cranio-spinal fusion or unrelated medical issues. Symptoms, patient satisfaction, and work status were assessed by a third-party questionnaire, pain by visual analog scale (0-10/10), neurologic exams by neurosurgeon, function by Karnofsky performance scale (KPS). Pre- and post-operative radiological measurements of clivo-axial angle (CXA), the Grabb-Mapstone-Oakes measurement, and Harris measurements were made independently by neuroradiologist, with pre- and post-operative imaging (MRI and CT), 10/20 with weight-bearing, flexion, and extension MRI. All subjects underwent open reduction, stabilization occiput to C2, and fusion with rib autograft. There was 100% follow-up (20/20) at 2 and 5 years. Patients were satisfied with the surgery and would do it again given the same circumstances (100%). Statistically significant improvement was seen with headache (8.2/10 pre-op to 4.5/10 post-op, p < 0.001, vertigo (92%), imbalance (82%), dysarthria (80%), dizziness (70%), memory problems (69%), walking problems (69%), function (KPS) (p < 0.001). Neurological deficits improved in all subjects. The CXA average improved from 127° to 148° (p < 0.001). The Grabb-Oakes and Harris measurements returned to normal. Fusion occurred in 100%. There were no significant differences between the 2- and 5-year period. Two patients returned to surgery for a superficial wound infections, and two required transfusion. All patients who had rib harvests had pain related that procedure (3/10), which abated by 5 years. The results support the literature, that open reduction of the kyphotic CXA to lessen ventral brainstem deformity, and fusion/stabilization to restore stability in patients with HCTD is feasible, associated with a low surgical morbidity, and results in enduring improvement in pain and function. Rib harvest resulted in pain for several years in almost all subjects.

A Comparative Study of the Reverse Sural Fascio-Cutaneous Flap Outcomes in the Management of Foot and Ankle Soft Tissue Defects in Diabetic and Trauma Patients.

Introduction. Soft tissue defects in the distal leg and foot are challenging conditions for reconstruction. The widely used reverse sural fascio-cutaneous flap (RSFCF) has been reported with large variation in complication frequency. Some authors reported higher complications in the diabetic population when compared with trauma patients. We compared the reliability of the RSFCF in treating such defects among both populations. Methods. This is a retrospective series with a prospective data collection of 24 patients (11 with type 2 diabetes and 13 in trauma settings) treated with an ipsilateral RSFCF for soft tissue defects of the distal leg and the rear foot. Healing events and complications were recorded and compared for both groups. The mean follow-up was 32 months. Results. Diabetic group versus trauma group showed the following results; mean flap healing time of 24 versus 22 days, donor site healing time of 14 versus 16 days, 1 total flap necrosis in both groups, 3 versus 2 cases of skin edge necrosis, 2 cases of temporary venous congestion in both groups, and 8 versus 10 cases of transient hypoesthesia of the lateral border of the foot. No infection was encountered in both groups and no recurrence of infection in the primary infected diabetic patients. Conclusions. We found the RSFCF to be useful, reproducible, and reliable in treating soft tissue defects with a very low frequency of serious complications. Diabetic patients were found to have similar outcomes when compared with trauma patients. Therefore, diabetes might not be a major factor of flap failure. Levels of Evidence: Level III: Therapeutic.

Outcomes of sympathectomy and vascular bypass for digital ischaemia in connective tissue disorders.

All patients (36 hands) with connective tissue disorders who underwent periarterial sympathectomy of the hand alone or in conjunction with vascular bypass at our institution between 1995-2013 were reviewed. The durable resolution of ulcers was significantly higher in patients treated by periarterial sympathectomy and bypass than in patients treated by periarterial sympathectomy alone. Although there were more digital amputations in patients treated by periarterial sympathectomy alone, the difference was not statistically significant. Vascular bypass in conjunction with sympathectomy may be better than sympathectomy alone in patients with digital ischaemia related to connective tissue disorders. LEVEL OF EVIDENCE: IV.

Isolated peroneal tenosynovial lipoma arborescens: multimodality imaging features.

Synovial lipoma arborescens is a rare and benign fatty proliferative lesion of the synovium that is most commonly seen within the suprapatellar pouch of the knee, but increasingly reported to involve tendon sheaths, including those of the ankle. We present the third known case of tenosynovial lipoma arborescens isolated to the peroneal tendon sheath without ankle joint involvement. To our knowledge, this is the first to report this entity utilizing a unique combination of radiographic, sonographic, and MR imaging, along with intraoperative and histologic correlation. Knowledge of this case is important when interpreting radiographic or sonographic images of this condition to raise the possibility of the rare entity of lipoma arborescens involving the peroneal tendon sheath.

Survival and outcomes after lung transplantation for non-scleroderma connective tissue-related interstitial lung disease.

BACKGROUND: Patients with non-scleroderma connective tissue-related lung disease (NS-CTLD), including rheumatoid arthritis, idiopathic inflammatory myopathies, Sjögren syndrome, mixed connective tissue disease, and systemic lupus erythematosus, may be at risk for worse outcomes after lung transplantation because of immune dysregulation or extrapulmonary manifestations of their underlying disease. We compared survival, acute and chronic rejection, and extrapulmonary organ dysfunction after transplantation in patients with NS-CTLD and idiopathic pulmonary fibrosis (IPF). METHODS: This was a retrospective cohort study of patients with NS-CTLD and IPF who were listed in the Scientific Registry of Transplant Recipients and underwent lung transplantation from May 5, 2005, to March 1, 2016. RESULTS: Patients with NS-CTLD (n = 275) were younger, a higher percentage female and non-white than patients with IPF (n = 6,346). NS-CTLD patients did not have worse adjusted survival (hazard ratio, 1.14, 95% confidence interval [CI], 0.92-1.42; p = 0.24). They were not more likely to have an episode of acute cellular rejection (odds ratio, 0.96; 95% CI, 0.72-1.28; p = 0.77) or to develop bronchiolitis obliterans syndrome (odds ratio, 0.82; 95% CI, 0.60-1.12; p = 0.21). Patients with NS-CTLD were not more likely to require plasmapheresis or dialysis or to develop a lymphoproliferative malignancy or liver disease after transplantation. CONCLUSIONS: We found no significant differences in survival, acute or chronic rejection, or extrapulmonary organ dysfunction in patients who underwent lung transplantation for NS-CTLD compared with IPF. In appropriately selected candidates, NS-CTLD should not be considered a contraindication to lung transplantation.