Sternal cleft and pectus excavatum: an overlooked congenital association?

BACKGROUND: Sternal cleft (SC), a rare thoracic malformation, is associated with pectus excavatum (PE) in 2.6-5% of cases. It remains unclear if these conditions are congenitally linked or if SC repair triggers PE. To investigate the potential higher frequency of PE in SC cases, we conducted a retrospective study of our SC patients. METHODS: We assessed PE incidence, progression, and management in SC patients treated at our institute from 2006 to 2022. When available, we collected pre-SC repair CT scan data, calculating the Haller Index (HI) and Correction Index (CI) and compared them to a selected control group. RESULTS: Among 8 SC patients, 7 had concomitant PE (87.5%), varying in severity. PE management ranged from observation to thoracoplasty, depending on its degree. We observed a significant pre-operative CI difference between SC and control group patients (p < 0.00001). In the last two SC repair cases, we attempted concurrent PE prevention or treatment. CONCLUSION: Our findings suggest an underestimated association between PE and SC in the existing literature. SC patients may exhibit a predisposition to PE from birth, which may become more apparent with growth after SC repair. Consequently, PE prevention or treatment should be considered during SC repair procedures.

Cardiac anomalies in pediatric patients with pectus excavatum.

OBJECTIVE: Pectus excavatum is the most prevalently encountered deformity of the thoracic wall. It can be accompanied by congenital anomalies. METHODS: The cardiac findings of 36 children who were diagnosed at the Thoracic surgery outpatient clinic of our university between 10 February 2021 and 1 October 2021 and 57 healthy children in a similar age group were analyzed. RESULTS: We determined that the pectus excavatum patients in our study had a higher risk of having mitral insufficiency, mitral valve prolapse, tricuspid valve prolapse, cardiac malposition, and congenital heart disease. CONCLUSION: Our study showed that the prevalence of cardiac pathologies was higher in pediatric pectus excavatum patients than in healthy children in the control group. Thus, we recommend clinicians to refer pediatric pectus excavatum patients to pediatric cardiology outpatient clinics for the early diagnosis of potential cardiac pathologies.

"When to Nuss? patient age as a risk factor for complications of minimally invasive repair of pectus excavatum: a systematic review and meta-analysis".

PURPOSE: The optimal age for minimally invasive repair of pectus excavatum (MIRPE) is unclear; this study investigates the differences in complication rates among different age groups undergoing repair. METHODS: PubMed and Embase databases were searched from inception to October 2020. To assess age as a risk factor for complications, odds ratios from relevant studies were analyzed using the Mantel-Haenszel method with a random-effects model for younger vs older patients. Specific complication rates were compared between the two cohorts using a chi-squared test. RESULTS: Of the 4448 studies retrieved, 25 studies stratified complication data by age groups. From these studies, ten studies compared groups at ages < 18 and ≥ 18 and four studies compared ages < 20 and ≥ 20, and one study compared ages < 19 and ≥ 19. These fifteen studies reported on 5978 patients, with 1188 complications, for a complication rate of 19.87%. Older patients were more likely to have complications in a pooled analysis of studies comparing older vs younger patients (OR = 1.66, 95% CI = 1.28-2.14, heterogeneity I2 = 49%). Specifically, older patients were significantly more likely to experience pneumothorax, pleural effusion, wound infection, bar displacement, and reoperations. CONCLUSION: Increased age is a risk factor for complications of MIRPE. This supports repair of pectus excavatum prior to late adolescence.

[Chest Wall Deformities in Children and Adolescents]. / Brustwanddeformitäten bei Kindern und Jugendlichen.

Chest wall deformities as a whole are relatively common in children and adolescents, although they comprise a wide spectrum of entities, some of them rare. Pectus excavatum has the highest prevalence. While some patients are asymptomatic, others suffer from substantial limitations. All symptomatic patients should be offered treatment. Minimally invasive surgical correction is the more effective option of treatment, besides the alternative application of a suction bell. Pectus carinatum and combined manifestations of chest wall deformities can also lead to physiological and psychosocial impairment and require treatment tailored to the individual patient in such cases. Syndromal chest wall deformities, such as Jeune syndrome, comprise a separate group of rare diseases that are associated with considerable, occasionally life-threatening comorbidities. These patients should be cared for in centres with appropriate expertise in an interdisciplinary and multimodal manner. This review discusses the different chest wall deformities encountered in paediatric surgical practice, along with their significance and possible therapeutic approaches.

Prevalence and prognosis of pericardial effusion in patients affected by pectus excavatum: A case-control study.

BACKGROUND: The presence of pectus excavatum(PEX) has been occasionally associated with pericardial effusion. Aim of the present study was to compare incidence and prognosis of pericardial effusion in a group of unselected patients with PEX vs a control group. METHODS: From a prospective registry of consecutive patients who underwent chest CT for cardiovascular disease, subjects with a radiological diagnosis of PEX were retrospectively identified (cases); from the same registry patients (controls) without rib cage abnormalities were randomly selected, until a 1:2 ratio was reached. The presence of pericardial effusion at CT was quantified. Follow-up was obtained for a composite end-point: cardiac tamponade, need for pericardiocentesis, need for cardiac surgery for relapsing pericardial effusion. RESULTS: A total of 43 patients with PEX (20 females) and a control group of 86 cases (31 females) without rib cage abnormalities were identified. Pericardial effusion evaluated at CT was significatively more prevalent in patients with PEX vs control group, 37.2% vs 13.9% (p < 0.001), respectively; four patients with PEX (9.3%) had at least moderate pericardial effusion vs no subjects among the controls (p = 0.004). PEX diagnosis was significantly associated to pericardial effusion at multi-variate analysis (OR95%CI 10.91[3.47-34.29], p < 0.001). At a mean follow-up of 6.5 ± 3.4 years no pericardial events were recorded. CONCLUSION: Our findings support the higher prevalence of pericardial effusion in patients with PEX when compared to a control group. The absence of adverse pericardial events at follow-up suggest the good prognosis of these effusions, that in the appropriate clinical setting might not be considered "idiopathic".

The chest wall gender divide: females have better cardiopulmonary function and exercise tolerance despite worse deformity in pectus excavatum.

PURPOSE: Pectus excavatum (PE) is a chest wall deformity of variable severity and symptomatology. Existing female-specific literature highlights breast asymmetry and cosmetic reconstruction. We sought to evaluate gender differences in cardiopulmonary function. METHODS: Cardiac MRIs, pulmonary function tests (PFTs), and cardiopulmonary exercise tests (CPETs) were reviewed in 345 patients undergoing preoperative evaluation for PE. Regression modeling was used to evaluate associations between gender and clinical endpoints of cardiopulmonary function. RESULTS: Mean age was 15.2 years, 19% were female, 98% were white. Pectus indices included median Haller Index (HI) of 4.8, mean depression index (DI) of 0.63, correction index (CI) of 33.6%, and Cardiac Compression Index (CCI) of 2.79. Cardiac assessment revealed decreased right and left ventricular ejection fraction (RVEF, LVEF) in 16% and 22% of patients, respectively. PFTs and CPETs were abnormal in ~ 30% of patients. While females had deeper PE deformities-represented by higher pectus indices-they had superior function with higher RVEF, LVEF Z-scores, FEV1, VO2 max, O2 pulse, work, and breathing reserve (p < 0.05). CONCLUSION: Despite worse PE deformity and symptomatology, females had a better cardiopulmonary function and exercise tolerance than males. Further research is needed to assess the precise mechanisms of this phenomenon and postoperative outcomes in this population.

Study on the correlation between OSAS and thoracic deformity in children: A retrospective single-center study in China.

OBJECTIVE: To evaluate the correlation between obstructive sleep apnea syndrome (OSAS) and the development of thoracic deformity in Children. METHODS: A retrospective analysis was performed with the medical records of 39 pediatric OSAS patients with thoracic deformity and matching 39 without thoracic deformity as control group between January 2015 and June 2019. The contrast was performed with age, gender, height, weight, body mass index (BMI), apnea/hypopnea index (AHI), the lowest oxyhemoglobin saturation (loSpO2)at night, tonsil and adenoid size, Alkaline phosphatase (ALP)and trace elements and metals between two groups. RESULTS: BMI, AHI, the lowest SpO2, Phosphorus and Zinc were the risk factors of thoracic deformity. Age, gender, disease history, the size of tonsil and adenoid, ALP and other trace elements were no significant difference occurred between two groups. CONCLUSION: OSAS characterized by apnea and hypoxia which are caused by narrow upper airway may be one cause of thoracic deformity in children. Pediatricians, thoracic and otolaryngologic surgeons should be alert to OSAS when thoracic deformities are diagnosed in children.

Prevalence of pectus excavatum (PE), pectus carinatum (PC), tracheal hypoplasia, thoracic spine deformities and lateral heart displacement in thoracic radiographs of screw-tailed brachycephalic dogs.

Pectus excavatum, thoracic spine deformities, tracheal hypoplasia and lateral heart displacement are frequently described in brachycephalic dog breeds. Pectus carinatum is described sporadically, although the authors' observations demonstrate that it may occur in certain brachycephalic dog breeds. It was hypothesised that dogs of screw-tailed brachycephalic breeds carry a greater risk of these anomalies than normal-tailed brachycephalic breeds, and that there could a relation between the presence of pectus excavatum or pectus carinatum and thoracic spine deformities, tracheal hypoplasia and lateral heart displacement. During retrospective studies, these anomalies were identified in lateral and dorso-ventral radiographs of the thorax in brachycephalic dog breeds. A statistical analysis revealed that the frequency of pectus excavatum occurrence in screw-tailed and normal-tailed brachycephalic dog breeds is similar. The greatest risk of pectus excavatum occurrence is carried by two breeds: Maltese (60%) and English Bulldog (58%), while for pectus carinatum: Pug (41%) and French Bulldog (18%). Dogs of screw-tailed brachycephalic breeds carry a greater risk of kyphosis (p < 0.0001), tracheal hypoplasia occurrence (p < 0.0001), compared to "normal-tailed" breeds. The hypothesis concerning a relation between the presence of pectus excavatum or pectus carinatum and the other anomalies studied was not confirmed (p > 0.05). It was demonstrated that in dogs of brachycephalic breeds there was a greater risk of co-incidence between kyphosis of the thoracic spine and lateral heart displacement (p = 0.038), as well as kyphosis of the thoracic spine and tracheal hypoplasia (p = 0.003).

The incidence of Marfan syndrome and cardiac anomalies in patients presenting with pectus deformities.

PURPOSE: The incidence of Marfan syndrome in the general population is 0.3%. Two-thirds of patients with Marfan syndrome have concurrent pectus deformity. However, incidence of Marfan syndrome and cardiac abnormalities in patients presenting with an isolated pectus deformity remains unknown. We sought to establish the degree of association between pectus deformities and these abnormalities, and whether referral of these patients for cardiac and genetic workup is warranted. METHODS: Our pediatric surgery group refers patients with pectus deformities for genetic and cardiac evaluation. We examined 415 records from 2009 to 2016, and identified 241 patients with a chief complaint of a pectus deformity. Patient characteristics, echocardiogram results, Haller indices, and genetic results were analyzed. RESULTS: The frequency of Marfan syndrome in our study was 5.3%. The incidence of Marfan was highest among patients with combined type pectus deformity (20%). Cardiac anomalies showed an overall incidence of 35%. Of those diagnosed with Marfan, 84% had cardiac abnormalities. CONCLUSION: More than 5% of patients presenting with a chief complaint of pectus deformity will have a diagnosis of Marfan syndrome, compared to 0.3% in the general population. Approximately a third of this population will have cardiac abnormalities. Referral of patients with pectus deformities for evaluation for Marfan syndrome and cardiac abnormalities is appropriate. LEVEL OF EVIDENCE: Level IV.

Repetitive Imaging following Minimally Invasive Repair of Pectus Excavatum Is Unnecessary.

INTRODUCTION: The objective of this study was to evaluate the necessity of repeat imaging after an initial chest radiograph (CXR) following minimally invasive repair of pectus excavatum (MIRPE). MATERIALS AND METHODS: A retrospective review was performed on patients who underwent MIRPE from January 2012 to July 2016 at two academic children's hospitals. Data collected included demographics, severity of pectus defect (Haller index [HI]), utilization of CXRs, outpatient follow-up, and clinical outcomes. RESULTS: A total of 360 patients (171 at Hospital 1 and 189 at Hospital 2) underwent MIRPE. Median age was 15.6 years and 84% were males. The median HI was 4.0. Median postoperative hospital length of stay was 4.2 days and median time to bar removal was 34 months. There was significant variation in postoperative imaging between the hospitals, including frequency of immediate postoperative CXR, total number of CXRs during hospitalization, and number of postoperative outpatient CXRs prior to bar removal. However, there was no significant difference in outcomes between the hospitals, including postoperative pneumothorax, postoperative chest tube placement, and complications. CONCLUSION: These data suggest that increased repetitive imaging after an initial postoperative CXR does not affect clinical outcomes and may not be necessary after MIRPE.

[Pectus excavatum y carinatum en el síndrome de Marfan y síndromes similares: prevalencia e impacto clínico pulmonar y cardiovascular].

INTRODUCTION: Pectus excavatum (PE) and carinatum (PC) are common in Marfan syndrome (SM) and similar syndromes (SS). Patients can evolve without symptoms. In some there is depression, social adjustment disorders, pulmonary and cardiovascular symptoms in which there is controversy about their relationship with the structural damage of the thorax. OBJECTIVE: To assess the prevalence of the type of thoracic deformity in patients with MS and SS in a historical and current cohort and to analyze the clinical, pulmonary and cardiovascular impact. METHOD: Prospective study. Subjects who met the Ghent criteria and who had a complete clinical record, an echocardiogram and/or magnetic resonance imaging, computed tomography and respiratory function tests were included. RESULTS: Of a total of 338 patients with MS and SS, 112 cases with thoracic deformity were detected, the prevalence of PE and PC in SM 13.6 and 12.4, respectively, was lower in SS. There is compression and displacement of lung and right cardiac cavities by PE and the correlation between the Haller Index and the increased PASP is 44 (p = 0.009). CONCLUSIONS: The prevalence of PE and PC in SM and SS is high, which impacts on lung function and cardiovascular damage, requires corrective management of the thoracic deformity and not only implies for aesthetic purposes.

INTRODUCCIÓN: El pectus excavatum (PE) y el pectus carinatum (PC) son frecuentes en el síndrome de Marfan (SM) y en síndromes similares (SS). Los pacientes pueden evolucionar sin síntomas. En algunos hay depresión, trastornos de adaptación social, síntomas pulmonares y cardiovasculares, en los cuales hay controversia de su relación con el daño estructural del tórax. OBJETIVO: Evaluar la prevalencia del tipo de deformidad torácica en pacientes con SM y SS en una cohorte histórica y analizar el impacto clínico, pulmonar y cardiovascular. MÉTODO: Estudio prospectivo. Se incluyeron sujetos con criterios de Ghent y características específicas de cada síndrome, con expediente completo, ecocardiograma o resonancia magnética y tomografía computada, y pruebas de función respiratoria. RESULTADOS: De un total de 338 pacientes con SM y SS, se detectaron 112 casos con deformidad torácica. Prevalencia de PE y PC en SM: 13.6 y 12.4; fue menor en SS. Hay compresión y desplazamiento de pulmón y cavidades cardiacas derechas por PE. Hay correlación entre el Índice de Haller y la presión sistólica de la arteria pulmonar incrementada es de 44 (p = 0.009). CONCLUSIONES: La prevalencia de PE y PC en el SM y SS es alta, lo cual impacta en la función pulmonar y cardiovascular, en esas condiciones se requiere del manejo correctivo de la deformidad torácica y el objetivo no es estético.

Relationship between cardiac MR compression classification and CT chest wall indexes in patients with pectus excavatum.

BACKGROUND/PURPOSE: In pectus excavatum (PE) patients owing to the location of the heart in the chest cavity, the most affected site of compression by the depressed chest wall is the right heart, and surgical repair has shown to provide a significant relief in the RH cavities compression. Our aim was to explore the relationship between the site of right cardiac compression, chest wall indexes (CT-CWI) and the sternal torsion angle (STA) based on cardiac magnetic resonance (CMR) and computed tomography (CT) among PE patients. METHODS: We included PE patients with no previous surgical correction referred to CMR and chest CT imaging as presurgical evaluations. The following CT-CWI were calculated: Haller Index (HI), correction index (CI) and STA. A CMR compression classification (CMR-CC) was implemented based on the analysis (in the horizontal long axis plane at end of diastole) of the right cardiac compression site, caused by the thoracic cage (sternum/ribs): Type 0 (T0): absence of cardiac compression; Type 1 (T1): compression of the lateral wall of the right ventricle (RV) without involvement of the atrioventricular (AV) groove; Type 2 (T2): compression of the RV involving the AV groove. RESULTS: Sixty PE patients underwent CMR and chest CT. Fifty (81%) patients were male, and the median age was 17.5 (14.0; 23.0) years. T0, T1 and T2 were found in 14 (23%), 27 (45%) and 19 (32%) patients. There were significant differences between types with regard to the HI (T0 3.9 ±â€¯1.1, T1 4.8 ±â€¯2.0, T2 6.4 ±â€¯3.1, p < 0.009) and to the CI (T0 22.1 ±â€¯10.4%, T1 31.6 ±â€¯16.1%, T2 46.9 ±â€¯16.3% p < 0.0001) and STA (T0 9.1 ±â€¯7.9°, T1 12.7 ±â€¯10.3°, class T2 23.0 ±â€¯13.6°p = 0.001) respectively. CONCLUSION: In this study, we established a cardiac magnetic resonance compression classification of patients with pectus excavatum comprising a simple discrimination of cardiac compression sites, which were related to chest wall indexes. TYPE OF STUDY: Study of Diagnostic Test. LEVEL OF EVIDENCE: Level II.

Incidence and Classification of Chest Wall Deformities in Breast Augmentation Patients.

Although chest wall deformities (CWDs) are seen four times more often in males than in females, most patients who consult plastic surgery clinics in our country are females. Breast augmentation and augmentation mastopexy were performed with a total of 812 breast implants in 406 patients. Forty-three of these patients had various CWDs. The CWD patient ages ranged from 18 to 43 years. Patients were observed for 6 months to 8 years (mean of approximately 3 years). Pectus excavatum (PE) was present in 22 patients, pectus carinatum (PC) in five patients, Poland syndrome (PS) in two patients, sunken chest deformity (SCD) in three patients, barrel chest deformity (BCD) in five patients, body builder deformity (BBD) in three patients, and long upper chest wall (LCW) in three patients. None of the patients had functional or cardiac deformities. A total of 86 round, anatomically textured gel implants in various profiles were used within a range of implant volumes for all patients. There were no serious complications in the 43 CWD patients. The frequency of CWDs in the total population of 406 patients was approximately 10.6%. PE was present in 51% (22/43) of the patients with CWDs. The deformity rates among patients who underwent augmentation mammoplasty were as follows (%): PE, 5.4; PC, 1.23; PS, 0.5; SCD, 0.73; BCD, 1.23; BBD, 0.73; and LCW, 0.73. The three most common deformities observed in this study were PE, PC, and BCD. The least common deformity was PS. Patients with CWDs should be carefully evaluated preoperatively, and all the associated measurements and calculations must be meticulously performed. The implant selection may differ according to the deformity pattern. For example, in patients with PE, prostheses with larger base diameters cover the deformity better. Although high-profile prostheses are preferred on the affected side in cases of PS and SCD, low- or middle-profile prostheses are preferred on the opposite side. Despite this common consensus, there was an asymmetry of approximately 1 cm between the sides, as observed postoperatively. However, the patients did not express dissatisfaction with this situation. Low-profile prostheses should be preferred for PC and BCD protruding CWDs because asymmetry becomes more prominent and over-projection occurs more frequently in cases of high-profile prostheses. The BBD projection is also a problem. For this reason, high-profile prostheses should be preferred in these patients. It is possible to obtain satisfactory results by using appropriate breast implants in patients with CWDs. Level of Evidence IV This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Psychosocial functioning in pediatric patients with pectus excavatum and pectus carinatum.

BACKGROUND/AIM: Pectus excavatum and pectus carinatum are the most commonly seen anterior chest wall deformities. Recent studies reveal that minimal invasive repair of pectus deformities improves the quality of life. Our aim is to assess the psychosocial functioning and sociodemographic characteristics of pediatric patients with pectus deformities and evaluate the differences between patients operated on with minimal invasive repair techniques and nonoperated patients. MATERIALS AND METHODS:  Thirty-two patients with pectus deformities who were operated on 6 months or more before and 31 nonoperated patients participated in the study. The Children's Depression Inventory, Piers-Harris Children's Self-Concept Scale, Capa Social Phobia Scale for Children and Adolescents, Strengths and Difficulties Questionnaire - Self-Report Version (SDQ-SR), and State-Trait Anxiety Inventory for Children - Trait Version were completed by the patients. The SDQ-Parent Report Version (SDQ-PR) was completed by their parents. RESULTS:  There were no statistically significant differences between operated and nonoperated patient groups in terms of total scores on the psychiatric rating scales. Prosocial behavior subscale scores in SDQ-SR (P = 0.013) and SDQ-PR (P = 0.019) were lower in the operated group. CONCLUSION: Prosocial behavior levels were lower in the operated group. Further exploration of the psychosocial profile of pediatric patients with pectus deformities would better elucidate their needs in the course of their socioemotional development.

Respiratory Morbidity in Infants Born With a Congenital Lung Malformation.

BACKGROUND AND OBJECTIVES: The actual frequency of respiratory symptoms related to congenital pulmonary malformations (CPMs) remains undetermined. The goal of this study was to prospectively evaluate the respiratory symptoms occurring in infants with prenatally diagnosed CPMs, identify factors associated with the occurrence of these symptoms, and evaluate their resolution after surgery. METHODS: Infectious and noninfectious respiratory symptoms were prospectively collected in a French multicenter cohort of children with CPMs. RESULTS: Eighty-five children were followed up to the mean age of 2.1 ± 0.4 years. Six children (7%) underwent surgery during the first 28 days of life. Of the 79 remaining children, 33 (42%) had respiratory symptoms during infancy before any surgery. Wheezing was the dominant symptom (24 of 79 [30%]), and only 1 infant had documented infection of the cystic lobe. Symptoms were more frequent in children with noncystic CPMs, prenatally (P = .01) or postnatally (P < .03), and with postnatally hyperlucent CPMs (P < .01). Sixty-six children underwent surgery during the follow-up period, and 40% of them displayed symptoms after the intervention. Six children had documented pneumonia during the postoperative period. At the end of the follow-up, pectus excavatum was observed in 10 children, significantly associated with thoracotomy (P < .02) or with surgery before the age of 6 months (P < .002). CONCLUSIONS: CPMs are frequently associated with wheezing episodes. Surgery had no significant impact on these symptoms but was associated with a paradoxical increase in pulmonary infections, as well as an increased risk of pectus excavatum after thoracotomy.

Minimally invasive repair of pectus excavatum: analyzing contemporary practice in 50 ACS NSQIP-pediatric institutions.

BACKGROUND: Minimally invasive repair of pectus excavatum (MIRPE) is a well-established procedure. However, morbidity rate varies widely among institutions, and the incidence of major complications remains unknown. STUDY DESIGN: The American College of Surgeons 2012 National Surgical Quality Improvement Program-Pediatric (NSQIP-P) participant user file was utilized to identify patients who underwent MIRPE at 50 participant institutions. Outcomes of interest were overall 30-day morbidity, hospital readmission, and reoperation. RESULTS: Chest wall repair designated MIRPE accounted for 0.6% (n = 264) of all surgical cases included in the NSQIP-P database in 2012. The median age at surgical repair was 15.2 years. Thoracoscopy was used in 83.7% of cases. No mediastinal injuries or perioperative blood transfusions were identified. The 30-day readmission rate was 3.8%. Three patients (1.1%) required re-operation due to the following complications: superficial site infection, bar displacement and pneumothorax. The overall morbidity was 3.8% with no incidences of mortality. CONCLUSIONS: This analysis of a large prospective multicenter dataset demonstrates that major complications following MIRPE are uncommon in contemporary practice. Wound infection is the most common complication and the main cause of hospital readmission. Targeted quality improvement initiative should be focused on perioperative strategy to further reduce wound occurrences and hospital readmission.

[Respiratory manifestations of Marfan's syndrome]. / Manifestations respiratoires du syndrome de Marfan.

Marfan's syndrome is a rare genetic disorder caused by a mutation of the gene FBN1, coding for the protein fibrillin-1. Cardiovascular, musculoskeletal and ophthalmic manifestations are the most commonly observed, but minor diagnostic criteria also include pulmonary manifestations. Pneumothorax, frequently relapsing, affects 5 to 11% of patients. Rib cage abnormalities (pectus excavatum or pectus carinatum) and apical blebs may contribute to their occurrence. Treatment does not require any specific procedure but there is an increased risk of recurrence. Pectus excavatum affects up to 60% of the patients, without any functional impairment in most cases. Surgery may be required (using the Nuss procedure) in case of cardiovascular or psychological symptoms. Marfan's syndrome is frequently associated with obstructive sleep apnoea, which may itself contribute to aortic dilatation. Some studies suggest a potential role of craniofacial abnormalities in the pathogenesis of sleep apnea in these patients. Pulmonologists should consider Marfan's syndrome when treating patients for recurrent spontaneous pneumothorax or rib cage abnormalities, since early detection of cardiac abnormalities improves the prognosis significantly.

Pectus excavatum and carinatum.

Pectus excavatum and carinatum are the most common morphological chest wall abnormalities. For both pectus excavatum and carinatum the pathogenesis is largely unknown although various hypotheses exist. Usually, exclusion of an underlying syndromal or connective tissue disorder is the reason for referral for genetic evaluation. A detailed anamnesis and family history are needed as well as a complete dysmorphological physical examination. If no features of an underlying disorder are detected, then the pectus excavatum/carinatum can be considered as an isolated abnormality and no further genetic studies seem indicated. Although cases of non-syndromal pectus excavatum/carinatum with a positive family history fitting Mendelian inheritance have been described, it is possible that these pedigrees represent multifactorial inheritance, as no genetic cause for familial isolated pectus excavatum/carinatum has been described yet. The recurrence risk for a non-familial iolated pectus excavatum/carinatum is unknown, but thought to be low. If other symptoms are found then appropriate further diagnostic studies are indicated as pectus excavatum/carinatum can be part of many syndromes. However, the most important and most frequently observed monogenic syndromes with pectus excavatum/carinatum are Marfan Syndrome and Noonan Syndrome.

Anesthesia and analgesia for pectus excavatum surgery.

The technique of choice for surgical correction of pectus excavatum is the Nuss procedure, a minimally invasive technique in which rigid metal bars are placed transthoracically beneath the sternum and costal cartilages until permanent remodeling of the chest wall has occurred. Intraoperatively, anesthesia focuses on three areas: the potential for catastrophic blood loss caused by perforation of large capacitance vessels and the heart, the potential for malignant arrhythmias, and the consequences of bilateral iatrogenic pneumothoraces. Postoperatively, analgesia is institutionally dependent and controversial, based on usage and type of regional anesthesia. The necessity of multimodal analgesic techniques creates a common ground across different hospital systems.