Poland syndrome combined with breast cancer: a case report.

Background: Poland syndrome is an occasional congenital malformation characterized by unilateral chest wall dysplasia and ipsilateral upper limb abnormalities. An association between Poland syndrome and breast cancer has been reported, but no clear etiological link between Poland syndrome and breast tumors has been established. We report a case of Poland syndrome combined with breast cancer and analyzed the clinical features of breast cancer in this case and its influence on the choice of treatment for breast cancer. Case Description: In February 2022, we admitted a 47-year-old woman with Poland syndrome involving the right limb combined with right-sided breast cancer. After admission, the patient was given eight cycles of neoadjuvant therapy and underwent a modified radical mastectomy on September 7, 2022. Absence of right pectoralis major muscle and pectoralis minor muscle, thoracic deformity, and an adhesive band along the side of the sternum to the right axilla were observed during the operation. After surgery, the incision achieved grade-A healing, and the targeted therapy was continued for 1 year. The patient was followed up for 8 months after surgery, and the limb function of the affected side recovered well, and no obvious subcutaneous effusion, flap necrosis, upper limb edema, and other complications were observed. Conclusions: The anatomic variation of patients with Poland syndrome has some influence on the selection of surgical methods for breast cancer, but whether it would affect the prognosis of patients is unknown. To clarify the relationship between Poland syndrome and breast cancer, we need more cases to conduct etiological studies in the future.

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.

Cardiovascular MRI assessment of pectus excavatum in pediatric patients and postoperative simulation using vacuum bell.

BACKGROUND: The sternal lift by Vacuum Bell (VB) is effective, as largely demonstrated by its intraoperative use during surgical procedure to elevate the sternum during the Nuss procedure routinely. Indeed, the thoracic remodelling during VB application is comparable to post-surgical scenario, and suitable to compare cardiovascular parameters of the two different thoracic configurations immediately. OBJECTIVE: We would quantify and correlate preoperative parameters which determine the severity of the pectus excavatum (PE), and the cardiovascular effects at the baseline. Than we would assess the cardiovascular changes during VB positioning, mimicking the immediate, temporary effect of Pectus-correction. MATERIALS AND METHODS: We included 26 consecutive patients (mean age is 13,3 +/- 2,2 years) symptomatic and non, with a previous clinical diagnosis of PE. CMR was performed before and during application of VB, using the same imaging protocol. In both conditions, we measured thoracic indexes, and cardiac function as well as flow through main vessels. RESULTS: Mean expiratory Haller Index (HI) was 5,4 (+/-1,4 SD; normal <3). During VB application, all patients showed improvement in the main morphologic parameters of the thorax (mean expiratory HI = 4,7 (+/-1,6 SD, delta -13%, P = 0,01). During VB application, a minimal but not significant increase of Right Ventricle End Diastolic Volume (RVEDVi) (delta +4,6%, P = 0,12), and Right Ventricle Ejection Fraction (RVEF) (delta +1,2%, P = 0,2) was observed. CONCLUSION: In adolescents affected by PE, cardiacMRI (CMR) demonstrates normal values of biventricular volume and systolic function. During VB application, beside significative improvements in chest wall anatomy, CMR shows a minimal positive variation in right ventricle volume and function. A minority of patients showed some degree of diastolic dysfunction at baseline, unchanged after VB application, with possible correlation between valve inflow and sternal impingement.

Description of a novel chest wall anomaly: The postprematurity thoracic dysplasia.

BACKGROUND/PURPOSE: Many studies on ex-preterm babies were conducted to evaluate their respiratory sequelae, but, to our knowledge, the condition described in this paper was never reported before and is not included in the classifications of thoracic anomalies proposed so far. METHODS: Clinical data and images of a novel thoracic deformity observed in the last 10 years are shown. This anomaly is characterized by an indentation of the ribs on both (less frequently one) anterolateral parts of the chest wall. All our patients with this condition were ex-preterm babies. We named this novel thoracic anomaly as "postprematurity thoracic dysplasia" (PPTD). Possible etiopathogenetic mechanisms and treatment options are discussed. RESULTS: We observed 8 patients with variable range of respiratory symptoms. In 2 cases the malformation caused a severe functional restriction of lung volumes and surgery was performed to improve respiratory symptoms; in other cases the symptoms were mild or absent and the malformation was a matter of concern only for cosmesis. CONCLUSIONS: PPTD is a novel thoracic anomaly typical of ex-preterms. Clinical relevance is variable. In severe cases surgery can be considered. LEVEL OF EVIDENCE: IV.

Computed tomography features can distinguish type 4 congenital pulmonary airway malformation from other cystic congenital pulmonary airway malformations.

PURPOSE: We aimed to identify clinical and computed tomography (CT) features that distinguish among cystic congenital pulmonary airway malformations (CPAMs) and offer new management strategies. METHODS: We retrieved data on 145 children (85 male, 60 female; median age, 14 months) with pathologically confirmed cystic CPAMs from 2008 to 2018 and retrospectively analyzed the clinical and CT characteristics. RESULTS: Of the 145 patients, 54 had type 1, 72 had type 2, and 19 had type 4 cystic CPAMs. Significantly more male patients had type 4 CPAMs. Type 2 CPAMs had a higher frequency of combined malformations and prenatal diagnosis than types 1 and 4. The median diameter of cystic CPAMs was 2.8 cm; that of type 1, 2, and 4 was 4.6, 1.5, and 8.1 cm, respectively. Regression analysis showed that a cyst of >7.9 cm in diameter was likely to be type 4, that of <2.8 cm was likely to be type 2, and that of 2.8-7.9 cm was likely to be type 1. Smaller cysts were more likely to be type 2 and larger cysts were more likely to be type 4. The incidence of pneumonia was higher in type 2 than in types 4 and 1. The frequency of mediastinal shift and pneumothorax was statistically significant, and both were more common in type 4. CONCLUSION: A cyst of >7.9 cm in diameter, mediastinal shift, and pneumothorax were the most important characteristics of type 4 CPAMs. CT features can distinguish type 4 CPAM from other cystic CPAMs.

Poland syndrome: A proposed classification system and perspectives on diagnosis and treatment.

Poland Syndrome (PS) is a rare condition, with an estimated incidence of approximately 1 per 30,000 births and encompasses a wide range of severities of chest and upper arm anomalies. The etiology remains unknown, but genetic involvement is suspected. Few radiological investigations have proven useful in the study PS phenotypes and we propose a reference algorithm for guiding pediatricians. Our experience with 245 PS patients in the last 10 years stimulated a phenotypical classification of PS. The management of the different PS types and a therapeutic algorithm according to the phenotypical features of each PS patient are also proposed.

Exaggerated Interventricular Dependence Among Patients With Pectus Excavatum: Combined Assessment With Cardiac MRI and Chest CT.

OBJECTIVE: We sought to explore whether patients with pectus excavatum have exaggerated interventricular dependence and to evaluate the impact of the malformation severity (assessed on CT) on both anatomic and functional cardiac parameters (assessed on cardiac MRI). SUBJECTS AND METHODS: The current study involved consecutive patients with a diagnosis of pectus excavatum who were referred to undergo cardiac MRI and chest CT to establish surgical candidacy or to define treatment strategies. RESULTS: Sixty-two patients with pectus excavatum underwent cardiac MRI and chest CT. Fifty (81%) patients were male, and the median age was 17.5 years (range, 14.0-23.0 years). Forty-seven (76%) patients had evidence of right ventricular compression. The left ventricle showed a significantly decreased end-diastolic volume (inspiration vs expiration: 70.4 ± 11.6 vs 76.1 ± 13.7 mL/m2, respectively; p = 0.01) and a significantly higher eccentricity index (1.52 ± 0.2 vs 1.20 ± 0.1, p < 0.0001) during inspiration than during expiration. The median respiratory-related septal excursion was 8.1% (interquartile range, 5.1-11.7%). Patients with pericardial effusion showed a significantly higher pectus excavatum severity index than patients without pericardial effusion (6.3 ± 3.4 vs 4.4 ± 1.3, respectively; p = 0.003). Patients with a relative septal excursion equal to or larger than 11.8% showed a significantly higher pectus excavatum severity index than patients with a relative septal excursion of less than 11.8% (6.3 ± 2.6 vs 4.7 ± 2.4, respectively; p = 0.05). CONCLUSION: In this study, patients with pectus excavatum showed significant alterations of cardiac morphology and function that were related to the deformation severity and that manifest as an exaggerated interventricular dependence.

Presentation and management of pulmonary sequestration with total visceral inflow and outflow.

Two of the most common types of congenital thoracic malformations are congenital pulmonary airway malformations (CPAMs) and bronchopulmonary sequestrations (BPS). Here we present the first known case of a hybrid lesion, with coexisting features of an extralobar sequestration (ELS) and CPAM type 2, with arterial inflow from the celiac trunk and venous outflow to the portal vein. The clinical presentation, investigative imaging and timing of surgery are discussed.

Malformación congénita de la vía aérea pulmonar o malformación adenomatoidea quística congénita: Serie clínica de 16 pacientes / Congenital pulmonary airway malformation or congenital cystic adenomatoid malformation

Objective: To describe 16 patients treated for a congenital pulmonary anomaly named congenital pulmonary airway malformation (CPAM) or congenital cystic adenomatoid malformation (CCAM) in Roberto del Río children S Hospital. Methods: We retrospectively analyzed the medical records of patienes who had had surgery for CPAM/CCAM from January 2000 to July 2014. Results: We found 16 cases, 9 of them were males. Nine had surgery within the first year of life (5 of them within 3 weeks of life). According to Stocker 's classification CPAM/CCAM was type 1 in 9 patients, and type 2 in 7. Diagnosis was based on antenatal ultrasonography s (n = 10), persistent abnormalities in Chest X-Ray (n = 4), recurrent pneumonia (n = 1) and incidental radiological findings (n = 1). Computed Tomography (CT) was performed in 13 patients, CT angiography in 2 and only chest x-ray in one. The lesions were located in right upper lobe (3), right middle lobe (2), right lower lobe (4), left upper lobe (4) and left lower lobe (3). One patient had pectus excavatum and another one had ventricuar septal defect. They all had open thoracotomy with lobectomy of the affected area. Postoperatively was uneventful except for transient lobar atelectasis in 2 patients. There was no mortality. Conclusions: We emphasize the early diagnosis and good outcome of our patients treated which this disease. Our findings are consistent with those that has been reported in the literature.

Objetivo: Describir los pacientes tratados por malformación congénita de la vía aérea pulmonar (MCVAP) o malformación adenomatoidea quística congénita (MAQC) en el Hospital de niños Roberto del Río desde el año 2000 hasta el segundo semestre de 2014. Métodos: Revisión retrospectiva de fichas clínicas. Resultados: 16pacientes, 9 hombres. Se operaron antes del año de vida 9 pacientes (5 de ellos antes de las 3 semanas de vida). Tipo de MCVAP (según clasificación de Stocker) tipo 1 fue 9/16 y tipo 2 fueron 7/16. La sospecha diagnóstica fue en base a diagnóstico prenatal 10/16, imagen radiológica persistente 4/16, neumonías repetidas 1/16 y hallazgo radiológico 1/16. Estudio imagenológico: Tomografia computada (TC) 13/16, Angio-TC 2/16y radiografía de tórax 1/16. Ubicación: lóbulo superior derecho 3/16, lóbulo medio 2/16, lóbulo inferior derecho 4/16, lóbulo superior izquierdo 4/16, lóbulo inferior izquierdo 3/16. Comorbilidad: ninguna 14/16, pectus excavatum 1/16, comunicación interventricular 1/16. Tratamiento quirúrgico: en todos los pacientes se realizó lobectomía total del lóbulo afectado por vía abierta. Evolución postoperatoria: Buena 14/16, atelectasia 2/16. No se registró mortalidad. Conclusiones: Se destaca el diagnóstico precoz y buena evolución de nuestros pacientes concordantes con la literatura.

Should asymptomatic congenital cystic adenomatous malformations be removed? the case against.

In this article, we debate the pros and cons for the surgical removal of asymptomatic antenatally diagnosed cystic adenomatous malformations (CCAM). It is often argued that asymptomatic antenatally diagnosed CCAMs should be surgically removed in infancy due to the risk of future malignancy, future risk of infection and other symptoms and of increased risk of surgery after infective episodes. However, the risk of malignancy is often overplayed and the risk may not even be decreased after excision of the CCAM. Furthermore, the risk of future symptoms is uncertain thus surgical removal will subject many infants to unnecessary risk. Medical follow up will decrease the numbers that undergo surgical intervention and newer imaging techniques are likely to decrease the radiation risk. Whichever route of management is followed there is an urgent need to outline the natural history of asymptomatic CCAMs.