Lung Transplantation for Primary Ciliary Dyskinesia and Kartagener Syndrome: A Multicenter Study.

Primary ciliary dyskinesia, with or without situs abnormalities, is a rare lung disease that can lead to an irreversible lung damage that may progress to respiratory failure. Lung transplant can be considered in end-stage disease. This study describes the outcomes of the largest lung transplant population for PCD and for PCD with situs abnormalities, also identified as Kartagener's syndrome. Retrospectively collected data of 36 patients who underwent lung transplantation for PCD from 1995 to 2020 with or without SA as part of the European Society of Thoracic Surgeons Lung Transplantation Working Group on rare diseases. Primary outcomes of interest included survival and freedom from chronic lung allograft dysfunction. Secondary outcomes included primary graft dysfunction within 72 h and the rate of rejection ≥A2 within the first year. Among PCD recipients with and without SA, the mean overall and CLAD-free survival were 5.9 and 5.2 years with no significant differences between groups in terms of time to CLAD (HR: 0.92, 95% CI: 0.27-3.14, p = 0.894) or mortality (HR: 0.45, 95% CI: 0.14-1.43, p = 0.178). Postoperative rates of PGD were comparable between groups; rejection grades ≥A2 on first biopsy or within the first year was more common in patients with SA. This study provides a valuable insight on international practices of lung transplantation in patients with PCD. Lung transplantation is an acceptable treatment option in this population.

Anesthetic Management of Patients With Kartagener Syndrome: A Systematic Review of 99 Cases.

KARTAGENER SYNDROME (KS) is characterized by the triad of chronic sinusitis, bronchiectasis, and situs inversus. The mirrored anatomy and respiratory infections in patients with KS patients pose great challenges for anesthetic management. The aim of this review is to summarize published cases with the hope of helping anesthesiologists perform anesthesia in patients with KS more safely. A comprehensive literature search for all cases of anesthetic management of KS patients was performed in Pubmed, EMBASE, CNKI, and Wanfang Database. The extracted data included age, sex, type of surgery, preoperative treatment, type of anesthesia, anesthetic agents, airway management, central venous catheterization, transesophageal echocardiogram, reversal of neuromuscular blockade, adverse events during the surgery, and postoperative complications. The study authors included 82 single-case reports, 3 case series, and 1 case cohort, with a total number of 99 patients. The most common surgical procedures were thoracic surgery (51.5%), which was followed by ear, nose, and throat surgery (16.5%), and general surgery (14.5%). The preoperative treatment of the patients was reported in only 20 patients, and included antibiotics, bronchodilators, steroids, chest physiotherapy, and postural drainage. General anesthesia was performed for 85.4% of the surgeries, and regional anesthesia was performed in 14.6% of the cases. For nonthoracic surgery, an endotracheal tube was the most commonly used airway device. For thoracic surgery, a double-lumen tube was the most commonly used airway device. The intraoperative process was uneventful in most patients, and most patients recovered smoothly in the postoperative course.

Pediatric unilobar resection in primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) causes chronic infections and progressive bronchiectasis that can lead to severe lung disease. Because there are no cures or regenerative therapy options for PCD, treatment of severe lung disease in PCD is focused on managing symptoms, including aggressive administration of antibiotics and diligent airway clearance. The Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) does not recommend routine lobectomy, reserving its use for "rare cases of PCD with severe, localized bronchiectasis" and warns that a lobectomy should be treated with caution. However, if aggressive medical management fails, selective surgical removal of severely defective lung may result in maintenance or improvement of pulmonary function. Certainly, the decision to recommend lung resection in the face of chronic bronchiectasis from PCD requires an extensive discussion before it is considered as an alternative treatment. The purpose of this manuscript was to demonstrate that in selected cases of unilobar disease with bronchiectasis that are not responsive to other therapies (antibiotics and airway clearance), removal of localized necrotic areas of the lung along with prophylactic antibiotics can improve the quality of life of children with PCD associated bronchiectasis and improve growth and nutritional status, and pulmonary function.

Anesthetic considerations for functional endoscopic sinus surgery in a patient with Kartagener syndrome.

Kartagener's syndrome (KS) is a rare genetic disease characterised by the triad of sinusitis, bronchiectasis, and situs inversus. This syndrome is associated with an increased risk of respiratory complications. Therefore, both the anaesthetic technique and the agents used must be carefully chosen according to the type of intervention and the patient's baseline condition. We present the case of a 48-year-old woman with KS, scheduled for functional endoscopic sinus surgery (FESS) and septoplasty under general anaesthesia. The main anaesthetic considerations in patients with KS are related to anatomical variations, pulmonary and cardiac functions, and respiratory infections. In this case, measures that reduce perioperative complications in KS are reviewed together with the special anaesthetic management in FESS, derived primarily from the need to maintain a bloodless surgical field and the use of induced hypotension techniques.

Anatomical variants of pulmonary segments and uni-portal thoracoscopic segmentectomy for lung cancer in a patient with Kartagener syndrome: a case report.

Situs inversus totalis (SIT) is an extremely uncommon congenital disease where the major organs of the body are transposed through the sagittal plane. Kartagener syndrome is a complication of SIT with immotility of bronchial cilia, bronchiectasis, and chronic sinusitis. There is no report describing patients with Kartagener syndrome who accept uni-portal segmentectomies for lung cancer in past studies. Here we report a 74-year-old female patient with both Kartagener syndrome and a small early-stage lung cancer lesion located in the apical segment of the left upper lobe (LS1). The pulmonary segment anatomy of the left upper lobe in this case, which had very rare variants, was presented and interpreted in detail. This patient underwent an anatomic segmentectomy to the LS1 and a partial excision to the left middle lobe with bronchiectasis through a single 3 cm length incision. We believe that the case can give surgeons some experience and inspiration.

Left Pulmonary Artery Patch Augmentation for Lung Transplant in a Patient With Situs Inversus.

Kartagener syndrome is characterized by situs inversus and defective cilia motion, the latter of which can lead to chronic infections and respiratory failure. If lung transplant is indicated, dextrocardia can pose surgical challenges. We report a rare case of sequential bilateral lung transplant in a 58-year-old man with Kartagener syndrome whose left pulmonary artery was abnormal in length, location, and direction. After placing the donor lungs in their orthotopic position, we augmented the recipient left pulmonary artery with a bovine pericardial patch. After 17 months of follow-up, the patient was in good condition with excellent graft function.

Lung transplantation for Kartagener syndrome: technical aspects and morphological adaptation of the transplanted lungs.

While technical considerations in lung transplantation for Kartagener syndrome have been discussed, little information is available about the postoperative morphological changes of the grafted lungs. Herein, we discuss both the technical aspects and postoperative morphological adaptation of the grafted lungs in a case of Kartagener syndrome. A 46-year-old male patient with Kartagener syndrome underwent bilateral cadaveric lung transplantation. The right arterial anastomosis for transplantation of the size-matched grafts required technical elaboration. After the transplantation, we found a free space in the cardiac notch of the left lung and partial collapse of the lower lobe of the right lung due to dextrocardia. Follow-up computed tomography performed on day 42 after the transplantation demonstrated resolution of the atelectasis and morphological adaptation of the grafts into the recipient's chest cavity with dextrocardia. Considering such early morphological adaptation of size-matched grafts, lobar reduction could be avoided in lung transplantation for Kartagener syndrome.

Technical Challenges in Lung Transplantation of Kartagener Syndrome Recipients: A Unique Team Experience With 12 Patients.

Kartagener syndrome (KS) is a rare congenital disorder related to bronchiectasis, chronic sinusitis, and situs inversus, predisposing patients to recurrent respiratory infections that can evolve to end-stage lung disease; lung transplantation (LTx) is one of the therapeutic options. This study highlights some concerns in this group of patients, mainly related to the difficulty of performing the transplantation in recipients with suppurative disease and situs inversus. We conducted a retrospective analysis of all KS patients who underwent LTx at 2 national reference centers by the same LTx team. During 29 years of analysis, we performed 12 cases of bilateral sequential LTx in KS patients, representing 2.4% of all Ltx that we performed. Special perioperative care is needed, including vascular access sites and lung isolation techniques; operative concerns include the arteriotomy and bronchotomy during the back table preparation of the graft and concern about the length of the arterial and bronchial anastomosis. We found a higher incidence of bronchial complications is this group that had not been previously reported. Bilateral sequential orthotopic LTx is feasible in this group of patients, and more studies are needed to understand possible reasons for the apparent higher incidence of bronchial complications.

Laparoscopic sleeve gastrectomy in a patient with situs inversus totalis and Kartagener syndrome: an unusual surgical conundrum.

Kartagener syndrome is a rare autosomal recessive condition. Approximately 25% of those with situs inversus totalis suffer the syndrome. With the rising overall number and indications for bariatric surgery, this condition will be increasingly recognised. We present a case of a 25-year-old woman with SIT and Kartagener syndrome who underwent a laparoscopic sleeve gastrectomy. As with all bariatric surgery, a multidisciplinary team approach was important in managing such a case. There were considerable cognitive challenges for the surgical team both preoperatively and during the procedure. The patient tolerated the operation well and was discharged 2 days after the surgery. At 12-months follow-up, the patient had achieved 125% excess weight loss. This case illustrates that an experienced surgeon can safely perform a laparoscopic sleeve gastrectomy on a patient with situs inversus totalis.

[A New-born Case of Total Conus Defect and Single Coronary Artery with Situs Inversus Totalis Suspected Kartagener Syndrome].

We report a new-born case of total conus defect type ventricular septal defect (VSD) and single coronary artery with situs inversus totalis, suspected Kartagener syndrome clinically. After the birth, as the patient had suffered from respiratory distress due to high pulmonary blood flow through the large defect, surgery was planned at age of 14-days after birth. Under median sternotomy and cardiac arrest, patch closure of VSD was performed as ordinary fashion. In spite of the situs inversus totalis and single coronary artery arose from right coronary sinus, operator could have completed all of surgical procedure at the right side of patient as usual. No remarkable respiratory complication was seen postoperatively and she was discharged from hospital 18th day in a good condition.

Technical Considerations for Lung Transplantation in Kartagener's Syndrome.

Kartagener's syndrome is a rare genetic disorder of ciliated epithelial cells associated with recurrent respiratory tract infections, bronchiectasis, and situs inversus. In some patients, the accumulation of airway secretions and recurrent infections lead to end-stage lung disease, for which lung transplantation is the only effective treatment. Anatomical variations, such as dextrocardia and pulmonary situs inversus, make the procedure challenging, yet feasible with certain technical modifications and careful preparation of donor lungs. We report a case of bilateral lung transplantation without the use of cardiopulmonary bypass in a patient with Kartagener's syndrome while describing important technical details of the operation.

Pitfalls and Challenges of Lung Transplant in a Patient With Kartagener Syndrome and Scoliosis.

We present a 22-year-old woman with Kartagener syndrome and scoliosis who died 112 days after single lung transplant. The classic thoracic involvement of situs inversus totalis and the asymmetric arrangement of the thoracic vascular structures might be a pitfall for surgeon. Anatomic obstacles have forced the surgeon to perform a single transplant. The period of primary graft dysfunction in a single transplanted lung patient was a challenge; supporting the patient with a high flow and long period of extracorporeal membrane oxygenation might lead to a vanishing bronchus. Immotile cilia, a feature of Kartagener syndrome, were another challenge and patient needed several daily aspiration bronchoscopies. Vanishing bronchus is a gradual process with high mortality rates; commonly, stenosis is at the non anastomotic bronchial tree because of insufficient nourishment of the bronchial cartilages. Several repeat bronchoscopic balloon dilatations accompanied with medical treatment were unsuccessful.

Cardiopulmonary Exercise Testing in Fontan Patients With and Without Isomerism (Heterotaxy) as Compared to Patients With Primary Ciliary Dyskinesia and Subjects With Structurally Normal Hearts.

Isomerism, also known as heterotaxy, is a clinical entity that impacts multiple organ systems both anatomically and functionally. The airways and lungs are involved in a great number of these patients, leading to increased sinopulmonary symptoms, increased need for oxygenation, and increased postoperative ventilatory support. Additionally, these patients often have congenital heart disease requiring Fontan palliation. What has not been previously described, and is the focus of this study, is the results of cardiopulmonary exercise testing in those who have undergone Fontan palliation with and without isomerism. We have now compared these finding with those from patients with primary ciliary dyskinesia, as many patients with isomerism have ciliary dyskinesia. We identified patients having the Fontan circulation with and without isomerism who had undergone cardiopulmonary exercise testing, comparing the findings from healthy individuals undergoing exercise, and a comparable number of individuals with primary ciliary dyskinesia but no congenital heart disease. We were able to include a total of 68 patients in our study, with 17 in each of the four groups. Cardiopulmonary exercise testing yielded the best results in healthy patients. All patients with the Fontan circulation demonstrated mixed pulmonary disease, although those with isomerism had greater FVC and FEV1. Exercise times did not differ, although peak consumption of oxygen was greater in those with isomerism. Those with ciliary dyskinesia had only obstructive pulmonary disease and had the lowest FEF25-75 between all groups. Those with isomerism had a lesser degree of obstructive pulmonary disease when compared to those with primary ciliary dyskinesia. Patients with the Fontan circulation with and without isomerism have relatively subtle differences in their cardiopulmonary exercise testing, with both groups demonstrating restrictive lung disease. In regard to obstructive lung disease, those with isomerism tend to be more similar to the patients with primary ciliary dyskinesia than those with the Fontan circulation but without isomerism. The results are likely limited by selection bias and highlight the need for multicentric efforts to characterize cardiopulmonary exercise testing in those patients with pulmonary isomerism.

Sinus surgery can improve quality of life, lung infections, and lung function in patients with primary ciliary dyskinesia.

BACKGROUND: Chronic rhinosinusitis (CRS) and bacterial sinusitis are ubiquitous in patients with primary ciliary dyskinesia (PCD). From the sinuses, Pseudomonas aeruginosa can infect the lungs. METHODS: We studied the effect of endoscopic sinus surgery (ESS) on symptoms of CRS and lower airway infections in PCD patients in a prospective single-arm intervention study of ESS with adjuvant therapy using nasal irrigation with saline, topical nasal steroids, and 2 weeks of systemic antibiotics. Additional treatment with local colistin for 6 months was instigated when P. aeruginosa was cultured at ESS. RESULTS: Twenty-four PCD patients underwent ESS to search for an infectious focus (n = 10), due to severe symptoms of CRS (n = 8), or both (n = 6). Bacteria were cultured from sinus samples in 21 patients (88%), and simultaneous sinus and lung colonization with identical pathogens were observed in 13 patients (62%). Four patients with preoperative P. aeruginosa lung colonization (25%) had no regrowth during follow-up; 2 of these had P. aeruginosa sinusitis. Sinonasal symptoms were improved 12 months after ESS and we observed a trend toward better lung function after ESS. CONCLUSION: We demonstrated an improvement in CRS-related symptoms after ESS and adjuvant therapy. In selected PCD patients, the suggested regimen may postpone chronic lung infection with P. aeruginosa and stabilize lung function.

A longitudinal evaluation of hearing and ventilation tube insertion in patients with primary ciliary dyskinesia.

INTRODUCTION: Primary ciliary dyskinesia (PCD) is an autosomal recessive genetic disease, which primarily manifests with oto-sino-pulmonary symptoms. Otitis media with effusion (OME) is common from early childhood. The existing literature on OME management in PCD is conflicting. The goals of the present study were firstly to evaluate the long-term hearing in PCD patients and secondly to determine the influence of ventilation tube (VT) insertion on hearing and postoperative otorrhoea. METHODS: A longitudinal retrospective study extracting the hearing level (pure tone average (0.5, 1, 2, 4 kHz, PTA)) and tympanometry from the medical records. Furthermore, the patient files were reviewed for VT insertion and postoperative otorrhoea. Postoperative otorrhoea was defined prolonged when it lasted for four weeks or longer. RESULTS: Fifty-seven patients were identified in a 30-year period, age 2-72 years, and 278 audiometries were evaluated. The median number of audiometries per patient was 3 (range 1-29) and the median follow-up was 60 months (range 0-351 months). The mean PTA was 34 dB HL in patients below six years of age and improved significantly (p < 0.0001) with age. VT insertion improved hearing; however, 48% of patients with VT insertion experienced prolonged otorrhoea. CONCLUSION: In this study of PCD patients the hearing improved as a function of age as well as following VT insertion. However, VT insertion was also associated with prolonged otorrhoea.

Left middle lobectomy for bronchiectasis in a patient with Kartagener syndrome: a case report.

BACKGROUND: Kartagener syndrome (KS) is a rare disorder characterized by the triad of chronic sinusitis, bronchiectasis, and situs inversus. CASE PRESENTATION: A 23-year-old man was admitted to our hospital because of recurrent cough with purulent expectoration, which had occurred intermittently for the past ten years. During the past 3 years, the episode frequency was 3-4 times per year. He was diagnosed with pulmonary infection and bronchiectasis of the left upper lobe, situs inversus, and KS. We concluded that the damaged left middle lobe was the source of repeat pulmonary infections. Thus the left middle lobe resection was performed to remove the source of the lung infection. CONCLUSIONS: The post-operative course was successful and pneumonia was apparently resolved during the 6 months' follow-up period. We further describe this case in the following report.

Clinical features of primary ciliary dyskinesia in Cyprus with emphasis on lobectomized patients.

BACKGROUND: Despite the manifestations of primary ciliary dyskinesia (PCD) in early life, the diagnosis is often much delayed. Since 1998 in Cyprus, we have established the only national diagnostic and clinical referral center for PCD. OBJECTIVE: To review the phenotypic features at presentation of PCD patients in Cyprus in relation to age at diagnosis, with emphasis on previously lobectomised patients. METHODS: The medical records of the diagnosed PCD patients were retrospectively reviewed to obtain clinical data on presentation. RESULTS: Thirty patients, aged 13.9 years (range 0.1, 58.4 years), were diagnosed with PCD. Twelve of them presented after the age of 18. The most common manifestations were chronic cough (100%), chronic rhinorrhea (96.7%), sputum production (92.9%), laterality defects (63.3%), a history of pneumonia (53.3%) and neonatal respiratory distress (50%). A history of lobectomy in the past was recorded in 16.7% (5 patients). Patients who presented in adulthood had significantly higher frequency of lobectomy (41.7% vs 0%, p-value = 0.006) and had more frequently low FEV1 (58.3% vs 0%, p-value = 0.015) than those who presented before. Serial measurements of FEV1 and FVC indicated significantly lower intercepts in lobectomised compared to the adult non-lobectomised patients both in terms of FEV1 (-4.90 vs -1.80, p-value = 0.022) and FVC (-5.43 vs -1.91, p-value = 0.029) z-score levels. Change in FEV1 and FVC across time was not statistically significant in either group. CONCLUSIONS: PCD often remains undiagnosed up to adulthood accompanied by appearance of advanced lung disease. Performance of lobectomies seems to be a poor prognostic factor for PCD in adulthood.