[Clinical phenotype and genetic analysis of a child featuring short stature and multiple skeletal dysplasia].

OBJECTIVE: To analyze the clinical phenotype and genetic basis for a child featuring familial short stature. METHODS: A child who was admitted to Huzhou Maternal and Child Health Care Hospital on October 7, 2021 for growth retardation and pectus carinatum was selected as the study subject. Physical exam and medical imaging was performed. The child was subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 1-year-old male, had manifested with slightly short stature (Z = -2.03), midfacial dysplasia, and multiple skeletal dysplasia such as pectus carinatum, irregular vertebral morphology, and defect of lumbar anterior bones. His mother, maternal grandmother and great-maternal grandfather also had short stature. WES revealed that the child has harbored a heterozygous c.2858dupA (p.Asp953GlufsTer476) frameshifting variant of the ACAN gene, which was inherited from his mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.2858dup (p.Sp953Glufster476) variant was classified as likely pathogenic (PVS1+PM2_Supporting). The patient has shown marked improved height after receiving 11 months of treatment with human recombinant growth hormone (supplemental dose) starting from 20 months of age. CONCLUSION: The ACAN: c.2858dup (p.Asp953GlufsTer476) variant probably underlay the pathogenesis of short stature in this child.

Non-surgical approaches to the management of chest wall deformities.

Chest wall deformities in children encompass a broad spectrum of disorders but pectus excavatum and carinatum are by far the most common. Treatment varies substantially by center, and depends on patient symptoms, severity of disease, and surgeon preference. Historically, surgical approaches were the mainstay of treatment for these disease processes but new advances in non-surgical approaches have demonstrated reasonable results in select patients. These non-surgical approaches include vacuum bell therapy, autologous fat grafting and hyaluronic acid injections for pectus excavatum, and orthotic brace therapy for pectus carinatum. There is debate with regards to optimal patient selection for these non-surgical approaches, as well as other barriers including reimbursement issues. This paper will review the current non-surgical approaches to chest wall deformities available, including optimal patient selection, treatment protocols, indications, contraindications, and outcomes.

Modeling of the chest wall response to prolonged bracing in pectus carinatum.

Pectus carinatum is a chest wall deformity that is often treated through the wearing of an external brace. The treatment of the deformity could benefit from a greater understanding of chest wall characteristics under prolonged loading. These characteristics are difficult to model directly but empirical studies can be used to create statistical models. 185 patients from 2018-2020 received bracing treatment. Data on the severity of the deformity, treatment pressures, and time of wear were recorded at the first fitting and all subsequent follow-up visits. This data was analyzed using a statistical mixed effects model to identify significant measures and trends in treatment. These models were designed to help quantify changes in chest wall characteristics through prolonged bracing. Two statistical models were created. The first model predicts the change in the amount of pressure to correct the deformity after bracing for a given time and pressure. The second model predicts the change in pressure response by the body on the brace after bracing for a given time and pressure. These models show a high significance in the amount of pressure and time to the changes in the chest wall response. Initial deformity severity is also significant in changes to the deformity. The statistical models predict general trends in pectus carinatum brace treatment and can assist in creating treatment plans, motivating patient compliance, and can inform the design of future treatment systems.

[Clinical characteristics of 111 cases with mucopolysaccharidosis â £A].

Objective: To analyze the clinical characteristics of patients with Mucopolysaccharidosis ⅣA (MPS ⅣA). Methods: A retrospective study was conducted on 111 patients with MPS ⅣA in Xinhua Hospital of Shanghai Jiao Tong University School of Medcine from December 2008 to August 2020, confirmed by enzyme activity and genetic testing. General situation, clinical manifestations and enzyme activity test results were analyzed. According to the clinical manifestations, it can be divided into severe, intermediate and mild group. The independent sample t test was used to compare the birth body length and weight of children with that of normal boys and girls, and group comparisons of enzyme activities were evaluated by median test. Results: One hundred and eleven unrelated patients, 69 males and 42 females, were classified into 3 subtypes: severe (n=85), intermediate (n=14), and mild (n=12). The age at symptom onset were 1.6 (1.0, 3.0) years, and at diagnosis were 4.3 (2.8, 7.8) years. Skeletal manifestations were observed in all patients and consisted mainly of pectus carinatum (96/111, 86.5%), motor dysfunction (78/111, 70.3%), spinal deformity (71/111, 64.0%), growth retardation (64/111, 57.7%), joint laxity (63/111, 56.8%) and genu valgum (62/111, 55.9%). Eighty-eight patients (88/111, 79.3%) with MPS ⅣA were also along with non-skeletal manifestations, mainly including snoring (38/111, 34.2%), coarse faces (34/111, 30.6%), and visual impairment (26/111, 23.4%). The most common skeletal manifestation was pectus carinatum (79 cases), and non-skeletal manifestation was snoring (30 cases) and coarse faces (30 cases) in severe patients, pectus carinatum (13 cases) and snoring (5 cases) in intermediate type, motor dysfunction (11 cases) and snoring (3 cases) and visual impairment (3 cases) in mild patients. The height and weight of severe patients began to fall below -2 s at 2-<5 years and 5-<7 years, respectively. At the age of 10-<15 years, the standard deviation score of the height of severe patients reached (-6.2±1.6) s in males and (-6.4±1.2) s in females, and the score of weight got (-3.0±1.1) s in males and (-3.5±0.5) s in females. The height of intermediate patients began to fall below -2 s at the age of 7-<10 years, and the standard deviation score of height were -4.6 s and -3.6 s in 2 males, and -4.6 s and -3.8 s in 2 females at the age of 10-<15 years. The weight remained within -2 s in 72.0% (18/25) of intermediate patients compared to age-matched healthy children. In the mild patients with MPS ⅣA, the mean standard deviation score of height and weight was within -2 s. The enzyme activities of mild patients (2.02 (1.05, 8.20) nmol/(17 h·mg)) were both significantly higher than that of intermediate (0.57 (0.47, 0.94) nmol/(17 h·mg)) and severe (0.22 (0, 0.59) nmol/(17 h·mg)) patients (Z=9.91, 13.98, P=0.005, 0.001), and the enzyme activity of intermediate patients was significantly higher than that of severe patients (Z=8.56, P=0.010). Conclusions: The clinical manifestations of MPS ⅣA are charactered by pectus carinatum, motor function impairment, spinal deformity and growth retardation. The clinical characteristics, growth rate and enzyme activity differ among the 3 subtypes of MPS ⅣA.

Remote Monitoring System of Dynamic Compression Bracing to Correct Pectus Carinatum.

Pectus carinatum (PC) is a chest deformity caused by disproportionate growth of the costal cartilages compared with the bony thoracic skeleton, pulling the sternum forwards and leading to its protrusion. Currently, the most common non-invasive treatment is external compressive bracing, by means of an orthosis. While this treatment is widely adopted, the correct magnitude of applied compressive forces remains unknown, leading to suboptimal results. Moreover, the current orthoses are not suitable to monitor the treatment. The purpose of this study is to design a force measuring system that could be directly embedded into an existing PC orthosis without relevant modifications in its construction. For that, inspired by the currently commercially available products where a solid silicone pad is used, three concepts for silicone-based sensors, two capacitive and one magnetic type, are presented and compared. Additionally, a concept of a full pipeline to capture and store the sensor data was researched. Compression tests were conducted on a calibration machine, with forces ranging from 0 N to 300 N. Local evaluation of sensors' response in different regions was also performed. The three sensors were tested and then compared with the results of a solid silicon pad. One of the capacitive sensors presented an identical response to the solid silicon while the other two either presented poor repeatability or were too stiff, raising concerns for patient comfort. Overall, the proposed system demonstrated its potential to measure and monitor orthosis's applied forces, corroborating its potential for clinical practice.

Pectus Arcuatum: A Pectus Unlike Any Other.

BACKGROUND: Pectus arcuatum is often mistaken for a type of pectus carinatum. However, pectus arcuatum is a unique clinical form of pectus caused by premature obliteration of the sternal sutures (manubrial sternum, four sternebrae and xiphoïd process), whereas pectus carinatum is due to abnormal growth of the costal cartilage. In order to better describe pectus arcuatum, we analysed the files of patients with pectus arcuatum followed in our centers. METHODS: Multicenter retrospective study of young patients' files diagnosed with pectus arcuatum. RESULTS: The clinical diagnosis of pectus arcuatum was made in 34 patients with a mean age at diagnosis of 10.3 years (4-23 years). A chest profile X-ray or a CT scan was performed in 16 patients (47%) and confirmed the diagnosis of PA by the presence of a sternal fusion. It was complete in 12 patients. A malformation was associated in 35% of cases (Noonan syndrome 33%, scoliosis 25% or cardiopathy 16%). 11 patients (32%) had a family history of skeletal malformation. Orthopedic treatment was initiated in 3 patients without any success. 11 patients underwent surgical correction, which was completed in 7 of them. CONCLUSION: The diagnosis of pectus arcuatum is based on clinical experience and if necessary, on a profile chest X-ray showing the fusion of the sternal pieces. It implies the search for any associated malformations (musculoskeletal, cardiac, syndromic). Bracing treatment is useless for pectus arcuatum. Corrective surgery, based on a sternotomy associated with a partial chondro-costal resection, can be performed at the end of growth. LEVEL OF EVIDENCE: IV.

Analysis of Psychological Assessments Affecting Patients Undergoing Treatment for Chest Wall Deformities.

AIM: This study aimed to review the literature with regard to the psychological aspects in patients with pectus excavatum (PE) and pectus carinatum (PC). METHODS: The literature was reviewed by analyzing articles on PubMed using the search terms "psychology" and "pectus." RESULTS: The literature search revealed 22 articles that offered a total of 2214 patients for analysis. Regarding chest wall deformities (CWD), there were 15 articles referring to PE, 4 articles on PC, and 3 pertaining to both PE and PC. Authors used various types of questionnaires and 14 studies which also included a parent questionnaire. There are 14 reports which analyzed both the preoperative and postoperative psychological status and 4 reports in which a control group was used. Treatment of CWD was shown to have consistently positive results. There is no consensus regarding the correlation between severity of CWD and psychological issues. Only 2 studies found no statistically significant results after treatment. CONCLUSIONS: The literature reveals a great concern for psychosocial issues in CWD patients. Most articles describe improvement in overall quality of life (QOL) after surgery. An increase in social and physical function, body image, and self-esteem was observed in CWD patients, which is supported by parent responses.

Basic Strategies of Augmentation Mammoplasty in Patients with Tendencies of Pectus Excavatum and Carinatum.

BACKGROUND: In this era of growing popularity of cosmetic surgeries, more women of various chest wall shapes are likely to receive augmentation mammoplasty. Pectus excavatum (PE) and pectus carinatum (PC) are the two most common chest wall deformities, and many asymptomatic patients visit the clinic. In this study, we presented various strategies for successfully performing breast augmentation in PE and PC patients without long-term complications such as symmastia. METHODS: From January of 2019 to December of 2021, a total of 132 patients with tendencies of PE and PC received augmentation mammoplasty in our institute. We retrospectively reviewed data on demographics, surgical procedure, outcomes, and complications. RESULTS: Among the 132 cases, 71.21% were done via inframammary approach, and 28.79% via transaxillary approach. The mean implant volume was 337.25 ± 51.46 ml, and the mean follow-up period was 16.48 ± 6.74 months. The Likert scale of outcome satisfaction scored 9.13 ± 0.48. No symmastia occurred. CONCLUSION: We presented our basic strategies of breast surgery in patients with various chest wall anomalies. Augmentation mammoplasty can benefit PE and PC patients physically as well as psychologically, to carry out healthy positive lives. 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 .

Psychometric properties of the Turkish version of the Pectus Carinatum Evaluation Questionnaire used in patients with pectus carinatum treated with compression orthosis.

BACKGROUND: The Pectus Carinatum Evaluation Questionnaire (PCEQ) was developed for use in patients with pectus carinatum (PC) treated with compression orthosis. The questionnaire can be used to develop a strict program in the early follow-up period or to improve patients' compliance with the treatment after treatment initiation and to improve the quality of life. OBJECTIVE: This study aimed to evaluate the psychometric properties of the Turkish version of the PCEQ in patients with PC treated with compression orthosis. STUDY DESIGN: Validity and reliability study. METHODS: This study included 52 volunteer patients with PC, aged 10-18 years. The Cronbach α coefficient, a measure of internal consistency, was used to check questionnaire reliability, and test-retest reliability (intraclass correlation coefficient) was used to check consistency over time. Construct validity was analyzed (correlation analysis) with the days/hours of orthosis use. RESULTS: The reliability of the Turkish version of the PCEQ was found to have acceptable-to-sufficient-to-excellent internal consistency (Cronbach α coefficient = 0.701-915). Test-retest reliability calculated for investigating the reliability of the questionnaire over time was found to be excellent (intraclass correlation coefficient = 0.880-0.941). Furthermore, treatment compliance hours (r = 0.280, P = 0.044) and days (r = 0.299, P = 0.032) were found to be associated with parents' influence at a low level and with time to compliance at a moderate level (r = -0.449-457, P = 0.001). CONCLUSION: The Turkish version of the PCEQ used in patients with PC treated with compression orthosis was found to have sufficient-to-excellent validity and reliability and could be used to develop a strict program for patients with PC using the orthosis or to improve patients' treatment compliance after treatment initiation. Using this questionnaire may be important to assist the team members in the clinical decision-making process.

Dynamic Compression Therapy for Pectus Carinatum in Children and Adolescents: Factors for Success.

BACKGROUND: Pectus carinatum (PC) is a congenital chest wall deformity. In childhood, it is increasingly treated with dynamic compression therapy. Factors for success for dynamic brace therapy are relatively unknown. METHODS: Between 2013 and 2020, 740 patients treated with the Dynamic Compression System (DCS), were studied. This included the effect of age, gender, pectus height, symmetry and pectus rigidity on treatment time and symptoms with linear multiple regression analyses. RESULTS: Carinatum height and high pressure of initial correction at the start of treatment were associated with a prolonged duration of treatment. For each cm increase in carinatum height, the total treatment duration increased with 1.9 months (p-value= 0.002, 95% CI: 0.70-3.13). An initial correction pressure of ≥7.6 pounds per square inch (psi), increased the treatment duration with 3.5 months (p-value 0.006, 95% CI: 1.04-6.01) compared to an initial correction pressure of ≤5.0 psi. A high initial pressure of correction of ≥7.6 psi increased the odds of having somatic symptoms with 1.19 (p-value= 0.012, 95% CI: 1.04-1.45) and psychosocial symptoms with 1.13 (p-value= 0.04, 95% CI: 1.01-1.27) compared to a low initial pressure of correction of ≤5.0 psi. An initial pressure of correction of 5.1-7.5 psi increased the odds of having somatic symptoms with 1.14 (p-value 0.046, 95% CI: 1.00-1.29) compared to an initial pressure of correction of ≤5.0 psi. Patients with asymmetric chests were more likely to abandon therapy CONCLUSIONS: High carinatum height and high initial pressure of correction are associated with prolonged bracing treatment and a higher failure rate. LEVEL OF EVIDENCE: III.

Clinical characteristics of 111 cases with mucopolysaccharidosis ⅣA / 中华儿科杂志

Objective: To analyze the clinical characteristics of patients with Mucopolysaccharidosis ⅣA (MPS ⅣA). Methods: A retrospective study was conducted on 111 patients with MPS ⅣA in Xinhua Hospital of Shanghai Jiao Tong University School of Medcine from December 2008 to August 2020, confirmed by enzyme activity and genetic testing. General situation, clinical manifestations and enzyme activity test results were analyzed. According to the clinical manifestations, it can be divided into severe, intermediate and mild group. The independent sample t test was used to compare the birth body length and weight of children with that of normal boys and girls, and group comparisons of enzyme activities were evaluated by median test. Results: One hundred and eleven unrelated patients, 69 males and 42 females, were classified into 3 subtypes: severe (n=85), intermediate (n=14), and mild (n=12). The age at symptom onset were 1.6 (1.0, 3.0) years, and at diagnosis were 4.3 (2.8, 7.8) years. Skeletal manifestations were observed in all patients and consisted mainly of pectus carinatum (96/111, 86.5%), motor dysfunction (78/111, 70.3%), spinal deformity (71/111, 64.0%), growth retardation (64/111, 57.7%), joint laxity (63/111, 56.8%) and genu valgum (62/111, 55.9%). Eighty-eight patients (88/111, 79.3%) with MPS ⅣA were also along with non-skeletal manifestations, mainly including snoring (38/111, 34.2%), coarse faces (34/111, 30.6%), and visual impairment (26/111, 23.4%). The most common skeletal manifestation was pectus carinatum (79 cases), and non-skeletal manifestation was snoring (30 cases) and coarse faces (30 cases) in severe patients, pectus carinatum (13 cases) and snoring (5 cases) in intermediate type, motor dysfunction (11 cases) and snoring (3 cases) and visual impairment (3 cases) in mild patients. The height and weight of severe patients began to fall below -2 s at 2-<5 years and 5-<7 years, respectively. At the age of 10-<15 years, the standard deviation score of the height of severe patients reached (-6.2±1.6) s in males and (-6.4±1.2) s in females, and the score of weight got (-3.0±1.1) s in males and (-3.5±0.5) s in females. The height of intermediate patients began to fall below -2 s at the age of 7-<10 years, and the standard deviation score of height were -4.6 s and -3.6 s in 2 males, and -4.6 s and -3.8 s in 2 females at the age of 10-<15 years. The weight remained within -2 s in 72.0% (18/25) of intermediate patients compared to age-matched healthy children. In the mild patients with MPS ⅣA, the mean standard deviation score of height and weight was within -2 s. The enzyme activities of mild patients (2.02 (1.05, 8.20) nmol/(17 h·mg)) were both significantly higher than that of intermediate (0.57 (0.47, 0.94) nmol/(17 h·mg)) and severe (0.22 (0, 0.59) nmol/(17 h·mg)) patients (Z=9.91, 13.98, P=0.005, 0.001), and the enzyme activity of intermediate patients was significantly higher than that of severe patients (Z=8.56, P=0.010). Conclusions: The clinical manifestations of MPS ⅣA are charactered by pectus carinatum, motor function impairment, spinal deformity and growth retardation. The clinical characteristics, growth rate and enzyme activity differ among the 3 subtypes of MPS ⅣA.

Chest wall deformities and their possible associations with different genetic syndromes.

OBJECTIVE: Our primary objective was to identify discrete and syndromic cases of Pectus excavatum (PE) and Pectus carinatum (PC). We also intended to highlight the significance of further genetic exploration in clinically suspected syndromic cases of PC and PE. Pectus excavatum (PE) and Pectus carinatum (PC) are the most common morphological chest wall deformities. Although various hypotheses have been put forth, the pathogenesis of both entities is largely unknown. Clinicians often refer such cases for further genetic evaluation to exclude an associated underlying connective tissue disorder or a syndrome. Additionally, a detailed anamnesis with focused family history and thorough dysmorphological physical examination was done. PE and PC are considered isolated abnormalities if there is the absence of features of other syndromes, eliminating the need for further genetic evaluations. It is believed that the pattern of inheritance of these non-syndromic isolated PE and PC cases with positive family history could be multifactorial in nature. The recurrence risk of such isolated cases is thought to be low. Further diagnostic studies are indicated as PE and PC could be a part of a syndrome. Among the many syndromes, the most common monogenic syndromes associated with PE and PC are Marfan's and Noonan's. PATIENTS AND METHODS: After obtaining the consent, we compiled a database of the patients who presented with chest wall deformities during the period 2017-2019. We selected 70 cases with PC and PE deformities to identify the discrete and syndromic PC and PE cases. During the study, we perused the cytogenetic and/or molecular analyses, that had been conducted to confirm the clinically suspected syndromic cases. We also scrutinized for the presence of PC and PE cases that are associated with the rare syndrome (s). RESULTS: Various genetic abnormalities were identified in 28 (40%) of the 70 cases that had been diagnosed with chest wall abnormalities. Along with PE and PC, other thoracic wall abnormalities were also identified, such as the broad chest, bell-shaped thorax, and elongated or enlarged thorax. One case of a rare genetic disorder of Morquio syndrome associated with PC was also identified. Novel (previously unpublished) genomic variants are reported here. CONCLUSIONS: It is important to delve deeper when encountering cases of PE and PC by conducting a further genetic exploration of such cases to identify syndromic associations that cause other structural and functional disorders, diagnosis of which might be missed during the early developmental period. Early identification of such disorders may help us correcting the defects, slowing the progression of disease processes, and preparing better to deal with the potential outcome.

Expanding the phenotype of ATP6AP1 deficiency.

Vacuolar ATPases (V-ATPases) are large multisubunit proton pumps conserved among all eukaryotic cells that are involved in diverse functions including acidification of membrane-bound intracellular compartments. The ATP6AP1 gene encodes an accessory subunit of the vacuolar (V)-ATPase protein pump. Pathogenic variants in ATP6AP1 have been described in association with a congenital disorder of glycosylation (CDG), which are highly variable, but often characterized by immunodeficiency, hepatopathy, and neurologic manifestations. Although the most striking and common clinical feature is hepatopathy, the phenotypic and genotypic spectrum of ATP6AP1-CDG continues to expand. Here, we report identical twins who presented with acute liver failure and jaundice. Prenatal features included cystic hygroma, atrial septal defect, and ventriculomegaly. Postnatal features included pectus carinatum, connective tissue abnormalities, and hypospadias. Whole-exome sequencing (WES) revealed a novel de novo in-frame deletion in the ATP6AP1 gene (c.230_232delACT;p.Tyr77del). Although both twins have the commonly reported clinical feature of hepatopathy seen in other individuals with ATP6AP1-CDG-related disorder, they do not have neurological sequelae. This report expands the phenotypic spectrum of ATP6AP1-CDG-related disorder with both probands exhibiting unique prenatal and postnatal features, including fetal ventriculomegaly, umbilical hernia, pectus carinatum, micropenis, and hypospadias. Furthermore, this case affirms that neurological features described in the initial case series on ATP6AP1-CDG do not appear to be central, whereas the prenatal and connective tissue manifestations may be more common than previously thought. This emphasizes the importance of long-term clinical follow-up and variant interpretation using current updated recommendations.

Combined surgical correction of pectus carinatum and juvenile kyphosis.

Pectus carinatum may rarely be associated with kyphosis. However, the correlation between both conditions is not well reported. Therefore, there are no reports for combined correction of both deformities in the same patient. Moreover, studies estimating the kyphosis prevalence in patients with pectus carinatum are lacking. To our knowledge, this is the first paper to present such a case. We report an 18-year-old boy with both pectus carinatum and kyphosis that were surgically corrected in a combined procedure. The indication of surgery is cosmetic, and the postoperative recovery included pneumothorax but was otherwise uneventful and satisfactory.

The psychometric properties of the Turkish version of the pectus carinatum body image quality of life questionnaire.

PURPOSE: The present study aimed to evaluate the psychometric properties of the Turkish version of the Pectus Carinatum Body Image Quality of Life Questionnaire (PeCBI-QOL), which was originally created in American English in patients with pectus carinatum (PC). METHODS: The study included 52 volunteer patients with PC, aged 10-18 years. Cronbach α was used to assess internal consistency. Intraclass correlation coefficient (ICC) was used to estimate the test-retest reliability. Construct validity was analyzed with the Pectus Excavatum Evaluation Questionnaire (PEEQ). RESULTS: The reliability of the Turkish version of the PeCBI-QOL was found to have acceptable to excellent internal consistency (Cronbach's α coefficient = 0.701-950). Test-retest reliability calculated for investigating the reliability of the questionnaire over time was found to be excellent (ICC = 0.817-0.983). Construct validity of the PeCBI-QOL (child and parent form) was found to be correlated with all subscales in the PEEQ questionnaire (r = - 0.425 to 897, p < 0.001) except the treatment motivation subscale (r = 0.033-0.111, p = 0.439-0.816). CONCLUSION: We determined that the Turkish version of the PeCBI-QOL questionnaire was valid and reliable for the assessment of body image and quality of life in Turkish patients with PC. PeCBI-QOL questionnaire, a self-assessment one, will assist Turkish clinicians who wish to assess body image and quality of life of patients with PC.

Abordagem de pectus carinatum na Atenção Primária e seu impacto na saúde emocional do paciente: relato de caso / Pectus carinatum approach in primary health care and its impact on the emotional health of the patient: case report / Abordaje del Pectus Carinatum en Atención Primaria y su impacto en la salud emocional del paciente: caso clínico

Introdução: O pectus carinatum (PC) é uma deformidade incomum da parede torácica, que geralmente surge na infância e se acentua na adolescência. Essa malformação pode levar a distúrbios estéticos e de autoestima, além de problemas respiratórios, que se devem à restrição da parede torácica. Existem poucos estudos brasileiros dedicados exclusivamente ao PC, e a maioria desses trabalhos direciona-se ao estudo do pectus excavatum (PE) ou de ambas as condições de forma conjunta. Apresentação do caso: Apresenta-se o caso de um paciente de 13 anos, masculino, que procura atendimento na Atenção Primária à Saúde (APS) por surgimento de tumefação em região paraesternal. Nega sintomas físicos, porém relata constrangimento e desconforto estético com a presença da proeminência. Conclusões: A abordagem multidisciplinar da deformidade torácica é fundamental na aceitação e no tratamento, tendo a APS um papel essencial Toda a equipe deve auxiliar e proporcionar, por meio do tratamento, melhor qualidade de vida estética, física e emocional ao paciente, fatores estes que nos impulsionaram a documentar este caso.

Introduction: Pectus carinatum (PC) is an unusual deformity of the chest wall that usually arises in childhood and becomes more pronounced in adolescence. This malformation can lead to aesthetic and self-esteem disorders, in addition to respiratory problems, due to the restriction of the chest wall. There are few Brazilian studies dedicated exclusively to PC, and most are directed at pectus excavatum or the investigation of both conditions jointly. Presentation of the case: In this case, a 13-year-old male sought medical attention in primary health care (PHC) because of the appearance of tumefaction in the parasternal region. He denied physical symptoms but reported embarrassment and aesthetic discomfort with the presence of the prominence. Conclusions: The multidisciplinary approach of thoracic deformity is fundamental in acceptance and treatment, with PHC playing an essential role, since all the team must assist and provide, through treatment, a better aesthetic, physical and emotional quality of life to the patient, and these factors led us to document this case.

Introducción: El pectus carinatum (PC) es una deformidad poco frecuente de la pared torácica, que suele surgir en la infancia y se acentúa en la adolescencia. Esta malformación puede provocar trastornos estéticos y de autoestima, así como problemas respiratorios, que se deben a la restricción de la pared torácica. Hay pocos estudios brasileños dedicados exclusivamente al CP, y la mayoría de los trabajos están dirigidos al estudio del Pectus Excavatum (PE) o al estudio de ambas condiciones conjuntamente. Presentación del caso: Presentamos el caso de un paciente masculino de 13 años que acude a Atención Primaria de Salud (APS) por la aparición de una tumefacción en la región paraesternal. Niega síntomas físicos, pero refiere malestar y vergüenza estética con la presencia de prominencia. Conclusiones: El abordaje multidisciplinar de la deformidad torácica es fundamental para su aceptación y tratamiento, teniendo la APS un papel fundamental, ya que todo equipo debe asistir y proporcionar, a través del tratamiento, una mejor calidad de vida estética, física y emocional al paciente, factores que nos han llevado a documentar este caso.

Changes in self-image after pectus carinatum brace treatment.

BACKGROUND/PURPOSE: Pectus carinatum (PC) is a chest wall deformity resulting in anterior protrusion of the chest. PC does not typically result in significant physical or cardiopulmonary symptoms, but patients with this condition can experience a disturbed body image, lower self-esteem and reduced quality of life.  The purpose of this study was to investigate the relationship between self-image and non-surgical correction of PC using a brace. METHODS: This study was a descriptive, pre-post survey design. The sample included children ages 11 to <18 years undergoing PC treatment with the dynamic compressor system. Subjects completed the modified Pectus Excavatum Evaluation Questionnaire (mPEEQ) at the onset of bracing and again once PC correction was completed. RESULTS: Ninety-seven subjects were enrolled at the time of bracing, and 41 achieved correction and took the second survey. The mean age was 14 years and 80% were male. There was a statistically significant (p<0.001) improvement in body self-image between the first and second surveys. CONCLUSIONS: Non-surgical correction of PC with the dynamic compressor system resulted in an improvement in the self-image of children. PROGNOSIS STUDY: Level of Evidence II.

Minimally invasive repair of pectus carinatum by the Abramson method: A systematic review.

BACKGROUND: The aim of this review is to provide an overview of the outcomes after minimally invasive pectus cartinatum repair (MIRPC) by the Abramson method to determine its effectiveness. METHODS: The PubMed and Embase databases were systematically searched. Data concerning subjective postoperative esthetic outcomes after initial surgery and bar removal were extracted. In addition, data on recurrence, complications, operative times, blood loss, post-operative pain, length of hospital stay, planned time to bar removal and reasons for early bar removal were extracted. The postoperative esthetic result, was selected as primary outcome since the primary indication for repair in pectus carinatum is of cosmetic nature. RESULTS: Six cohort studies were included based on eligibility criteria, enrolling a total of 396 patients. Qualitative synthesis showed excellent to satisfactory esthetic results in nearly all patients after correctional bar placement (99.5%, n = 183/184). A high satisfaction rate of 91.0% (n = 190/209) was found in patients after bar removal. Recurrence rates were low with an incidence of 3.0% (n = 5/168). The cumulative postoperative complication rate was 26.5% (n = 105/396), of whom 25% required surgical re-intervention. There were no cases of mortality. CONCLUSIONS: Minimally invasive repair of pectus carinatum through the Abramson method is effective and safe. Its efficacy is demonstrated by the excellent to satisfactory esthetic results in 99.5% and 91.0% of patients after respectively correctional bar placement and implant removal. Future studies should aim to compare different treatment options for pectus carinatum in order to elucidate the approach of choice for different patient groups.