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 Novel (previously unpublished) genomic variants are reported here.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.

Echocardiography Reveals Heart Abnormalities in Pediatric Pectus Carinatum.

BACKGROUND: Symptoms including chest pain and palpitations are commonly described by pediatric patients with pectus deformity. Cardiac anomalies are thought to be less common in patients with pectus carinatum (PC) than those in patients with pectus excavatum; however, no literature supports this presumption. Echocardiogram (echo) assesses heart structure and function. We hypothesized that a screening echo would 1) determine the relationship between symptoms and echo findings and 2) define the incidence of cardiac defects in patients with PC. MATERIALS AND METHODS: This is an institutional review board-approved retrospective review of all patients with PC who received an echo from 2015 to 2019 at a tertiary care children's hospital. Echo findings and patient-reported symptoms were collected from electronic health records. Descriptive statistics were used to assess correlation between findings. RESULTS: We identified 155 patients with PC who received an echo with complete data available for analysis. Of these, 44 (28.4%) reported chest pain and 13 (8.4%) reported palpitations. Echo results showed that five patients (3.2%) had mitral valve prolapse and 11 (7.1%) had aortic root dilation. Patient-reported symptoms were not significantly associated with abnormal echo findings. CONCLUSIONS: Chest pain and palpitations frequently occur in the PC population but may not be related to abnormal echo findings. We recommend screening echo in patients with PC regardless of symptoms.

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).

Left congenital diaphragmatic hernia-associated musculoskeletal deformities.

AIM: With the advancement in the treatment strategies of congenital diaphragmatic hernia (CDH), there is an increase in the survival rates. This fact leads to an increase in the morbidity and extrapulmonary complications in the long term such as failure to thrive, hernia recurrence, neurodevelopmental delay, gastrointestinal problems, and musculoskeletal anomalies. Herein, we aim to investigate the association between the long-term musculoskeletal complications in CDH patients regarding the defect size, repair type, and perinatal parameters. METHODS: After Institutional Review Board approval was obtained (2017-6361), a retrospective chart review was performed on CDH patients from 2003 to 2016. Patients who were operated due to left-sided isolated congenital diaphragmatic hernia and survived to date were included in the study. Data were collected on demographics, preoperative characteristics, operative interventions, and postoperative outcomes. Statistical analysis was performed with IBM SPSS Statistics 20.0.0 (Chicago, IL). RESULTS: There were 98 patients with left CDH of whom 33 (33.7%) had primary repair, 25 (25.5%) had patch repair, and 40 (40.8%) had muscle flap repair. The median age of the patients was 6.00 ± 3.83 years. 45 patients (45.9%) had large diaphragmatic defects, 28 patients (28.6%) had at least one type of musculoskeletal deformities, 2 of which were pectus carinatum, 16 were pectus excavatum, and 18 were scoliosis. CDH patients who had small diaphragmatic defects and repaired with a patch were less likely develop musculoskeletal deformities while who had primary abdominal closure after ventral hernia significantly have more pectus excavatum. CONCLUSION: Although there was a trend towards an increased risk of the pectus deformity and scoliosis in patients repaired with muscle flap, it did not reach statistical significance. There is a correlation between musculoskeletal deformities and the severity of the CDH.

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.

[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.

Symptoms in Pectus Deformities: A Scoring System for Subjective Physical Complaints.

Background The literature is silent on the relationship between symptoms and the Haller index. Nor is there a classification of the severity of the physical complaints. Materials and Methods Retrospectively, data from 128 patients (102 funnel, 25 pigeon chest patients, and 1 mixed type) were evaluated. To objectify the symptoms, we developed a score to describe the level of physical ailments. This score includes 10 different symptoms as well as the situation or frequency in which they occur and an impact factor. This depends on how much they affect everyday life. Results Pectus excavatum patients express physical complaints more frequently than pectus carinatum patients who actually suffer more from psychological stress. We could not find a correlation between the Haller index and symptoms or levels of ailment. Conclusion Pectus deformities are likely to cause physical and psychological complaints. Since the subjective symptoms did not show any correlation to the chest severity index, they are supposed to be independent from the deformity's extent.

Chest wall reconstruction in Marfan syndrome following aortic root replacement.

Chest wall and spine deformities are common in Marfan syndrome, and often coexist with cardiac defects. Surgery is often needed to both the aortic root and the anterior chest wall, and early spinal surgery is not uncommon. We describe a case of severe thoracic cage deformity with aortic root dilatation, which was managed by a staged approach, with a very good final result.