Primary Right Atrial Cardiac Angiosarcoma in Patient With Poland Syndrome: Case Report and Review of the Literature.

This article presents the case of a 24-year-old woman with Poland syndrome who developed primary right atrial cardiac angiosarcoma. The patient presented to the hospital with dyspnea and chest pain, and imaging studies revealed a large mass attached to the right atrium. Urgent surgery was performed to remove the tumor, and the patient underwent adjuvant chemotherapy afterward. Follow-up exams showed no signs of the tumor or any complications from treatment. Poland syndrome is a rare congenital disorder characterized by the absence of unilateral large pectoral muscle, ipsilateral symbrachydactyly, and other malformations of the anterior chest wall and breast. Although the condition does not predispose patients to malignancy, different pathologies can be seen in these patients due to the unknown etiology of the syndrome. Primary right atrial cardiac angiosarcoma is a rare malignancy, and its coexistence with Poland syndrome has not been well established in the literature. This case report highlights the need to consider cardiac angiosarcoma as a possible diagnosis in patients with Poland syndrome who present with cardiac symptoms.

A rare coexistence: Poland's syndrome and cardiac angiosarcoma.

Poland's syndrome, a rare genetic disorder that accompanies malignancies, musculoskeletal disorders, cardiac and genitourinary syndromes. There is no study that represents the association between cardiac angiosarcoma and Poland's syndrome. A 24-year-old female patient previously diagnosed with Poland's syndrome was admitted to our hospital complaining of dyspnea. Diagnostic imaging showed an irregular mass in the right atrial cavity. After successful surgery, she was discharged uneventfully and the 3rd month oncologic follow-up reveals none of residual mass. The coexistence has not been diagnosed and treated in a cardiac surgery department before. With this presentation, we aimed to contribute to the literature with this presentation, for the right and early diagnosis and management of possible new cases in the future can be diagnosed and treated correctly and early.

Anomalía de Poland, a propósito de dos casos / Poland anomaly, about two cases

Introducción: el síndrome de Poland, conocido también como secuencia de Poland o anomalía de Poland, fue descrito por primera vez por Alfred Poland en 1841. Corresponde a una alteración musculoesquelética congénita, caracterizada por la ausencia total o parcial del músculo pectoral mayor, asociada a anormalidades de la extremidad superior ipsilateral. Objetivo: se presentan 2 casos de niñas que consultaron por asimetría mamaria, en el primer caso una niña de 12 años con ausencia del pectoral mayor y antecedente de postquirúrgicos sindactilia de mano derecha ipsilateral. El segundo caso, una niña de 9 años con asimetría mamaria sin alteración en la extremidad. Conclusión: la anomalía de Poland o secuencia de Poland es una alteración musculoesquelética de presentación infrecuente, de aparición esporádica, de mayor prevalencia en masculinos, afecta generalmente el lado derecho del cuerpo, muy pocas veces amerita tratamiento quirúrgico

Introduction: Poland syndrome, also known as Poland sequence or Poland anomaly, was first described by Alfred Poland in 1841. It corresponds to a congenital musculoskeletal disorder, characterized by the total or partial absence of the major pectoral muscle associated with limb abnormalities ipsilateral superior. Objective: There are 2 cases of girls who consulted for breast asymmetry, in the first case a 12-year-old girl with absence of the pectoralis major and a history of post-surgical syndactyly of the right ipsilateral hand, the second case a 9-year-old girl with breast asymmetry without limb alteration Conclusion: The anomaly of Poland or sequence of Poland is a musculoskeletal alteration with an infrequent presentation, of sporadic appearance, more frequent in males, 10 frequently affecting the right side of the body, very rarely merits surgical treatment.

Breast Reconstruction in Poland Syndrome Patients with Latissimus Dorsi Myo Flap and Implant: An Efficient Endoscopic Approach Using Single Transverse Axillary Incision.

BACKGROUND: Breast hypoplasia or amastia with pectoralis major muscle defect in female Poland syndrome patients always necessitates surgical intervention. This study aims to introduce an efficient endoscopic technique to perform breast reconstruction in Poland syndrome patients with a latissimus dorsi myo flap and an implant using a single transverse axillary incision (ELDM + IMPLANT) and to evaluate its safety and effectiveness. METHODS: A prospective study was designed to recruit Poland syndrome candidates for ELDM + IMPLANT breast reconstruction. Only one transaxillary incision was made to harvest the LDM flap and create the anterior chest wall pocket. The LDM flap was transposed to the front to reconstruct the breast with a silicone implant. Patient demographics, LDM area, implant size, contralateral symmetry surgery, operative time and post-operative complications were collected. The BREAST-Q reconstruction module was used to evaluate patient quality of life. The disabilities of the arm, shoulder and hand (DASH) outcome questionnaire was used to evaluate patient upper extremity disabilities. RESULTS: Sixteen eligible patients were recruited and received ELDM + IMPLANT-BR. Mean endoscopic time for LDM flap harvesting was 61.6 min. All of the 16 patients recovered uneventfully without any significant complications. The post-operative scores of satisfaction with breast and psychosocial well-being were significantly higher than the pre-operative ones. The score of DASH was 7.1 pre-operatively and 8.3 post-operatively with no significant difference either. The score of satisfaction with outcome was 80.0. CONCLUSIONS: Our proposed ELDM + IMPLANT technique provides a safe and efficient way to reconstruct breasts in Poland syndrome patients with a high satisfaction rate, optimized aesthetic outcome and minimized donor site morbidity. 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 .

Clinical characteristics of Poland's syndrome associated with breast cancer: Two case reports and a literature review.

Poland's syndrome is a rare congenital malformation that is characterized by a congenital defect of the pectoralis major. It is associated with various ipsilateral upper extremity anomalies and homolateral breast hypoplasia. There have been reports of Poland's syndrome being associated with different malignancies. Here, we report two cases of Poland's syndrome associated with breast cancer (BC) and review the literature. To date, 21 cases (including our two cases) of Poland's syndrome associated with BC have been reported. The clinical characteristics of the disease are analyzed in this report.

The value of full-body skin examination: Poland syndrome diagnosed as an incidental finding.

Poland syndrome is a rare congenital disorder characterized by agenesis of the pectoralis major muscle. It is generally unilateral, right-sided, and can be associated with a myriad of thoracic and upper limb defects. Knowledge of this disorder can lead the astute clinician to prompt diagnosis and referral to surgical specialists for further workup. Surgery is often performed for either esthetic or functional concerns.

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.

Deformidad de la caja torácica / Chest wall deformity

Resumen Las deformidades de la caja torácica se pueden dividir en dos tipos, las que son productos del desarrollo anormal del pecho en el crecimiento y las congénitas que son las secundarias a una malformación estructural del pecho evidente en el nacimiento. Las malformaciones del desarrollo son las más comunes, como por ejemplo pectus excavatum o pectun carinatum. Las menos comunes son las de tipo congénito: síndrome de Poland, displasia espondilotorácica, displasia espondilocostal, síndrome de Jeune y los defectos de la costilla o el esternón. Las deformidades del pecho de tipo congénita se caracterizan por afectar la relación entre la columna vertebral, la caja torácica y los pulmones. La mayoría de estos pacientes desarrollan un disturbio respiratorio progresivo de tipo restrictivo conocido como Síndrome de Insuficiencia Torácica. Este síndrome se define como la deficiencia de la caja torácica para mantener una respiración normal y sostener el crecimiento fisiológico del pulmón. En este artículo discutiremos varias condiciones que afectan el desarrollo y función de la caja torácica.

Chest wall deformities are divided as an abnormal development during the growth or those secondary to a congenital malformation. The developmental type is the most common: pectus excavatum or pectus carinatum. The less common are the congenital types of chest wall abnormalities: Poland's syndrome, Jeune's syndrome, espondylothoracic dysplasia, espondylocostal dysplasia and defects of the ribs or sternum. The congenital type usually affects the relationship between the spine, rib cage and the lungs. Therefore, many of these patients will develop a progressive respiratory disturbance of restrictive type known as Thoracic Insufficiency Syndrome. Thoracic insufficiency syndrome is defining as a deficiency of the rib cage to maintain a normal respiration and to sustain the physiological growth of the lungs. In this article will discuss several conditions that will affect the development and function of the chest wall.

Controversies in Poland Syndrome: Alternative Diagnoses in Patients With Congenital Pectoral Muscle Deficiency.

PURPOSE: Poland syndrome was first described as a deficiency of the pectoral muscle with ipsilateral symbrachydactyly. Currently, numerous case reports describe variations of Poland syndrome in which pectoral muscle deficiency is often used as the only defining criterion. However, more syndromes can present with pectoral muscle deficiency. The aim of this review is to illustrate the diversity of the phenotypic spectrum of Poland syndrome and to create more awareness for alternative diagnoses in pectoral muscle deficiency. METHODS: A systematic literature search was performed. Articles containing phenotypical descriptions of Poland syndrome were included. Data extraction included number of patients, sex, familial occurrence, and the definition of Poland syndrome used. In addition, hand deformities, thoracic deformities, and other deformities in each patient were recorded. Alternative syndrome diagnoses were identified in patients with a combination of hand, thorax, and other deformities. RESULTS: One hundred-and-thirty-six articles were included, describing 627 patients. Ten different definitions of Poland syndrome were utilized. In 58% of the cases, an upper extremity deformity was found and 43% of the cases had an associated deformity. Classic Poland syndrome was seen in 29%. Fifty-seven percent of the patients with a pectoral malformation, a hand malformation, and another deformity had at least 1feature that matched an alternative syndrome. CONCLUSIONS: Pectoral muscle hypoplasia is not distinctive for Poland syndrome alone but is also present in syndromes with other associated anomalies with a recognized genetic cause. Therefore, in patients with an atypical phenotype, we recommend considering other diagnoses and/or syndromes before diagnosing a patient with Poland syndrome. This can prevent diagnostic and prognostic errors. CLINICAL RELEVANCE: Differentiating Poland syndrome from the alternative diagnoses has serious consequences for the patient and their family in terms of inheritance and possible related anomalies.

Poland's Syndrome: When there is no breast.

Poland's Syndrome is rare, therefore, clinicians may not be familiar with all that potentially defines this disorder. Much of the literature that exists regarding Poland's Syndrome focuses on the surgical correction of breast asymmetry for cosmesis. Inspired by a patient at our institution, this paper reviews this rare breast disorder and its associated findings within the context of the whole woman with special attention to breast cancer in this cohort.

Proposal of the TBN Classification of Thoracic Anomalies and Treatment Algorithm for Poland Syndrome.

BACKGROUND: Poland syndrome is a congenital deformity characterized by unilateral anomalies of pectoralis muscles, breast, nipple, axillary fold, subcutaneous tissue, ribs, and upper limb. The thoracic anomaly, which is the pathognomonic malformation of Poland syndrome, presents a wide phenotype variability and has been classified by different authors. However, these classifications do not include all the possible phenotypes of Poland syndrome. The aim of this study is to propose a simple classification of the whole spectrum of thoracic anomalies and a treatment algorithm that could have a practical value for determining the surgical approach. METHODS: Since 2008, 100 patients have been evaluated by the same plastic surgical team at San Martino Hospital-IST and Istituto Gaslini of Genoa, Italy, using the thorax, breast, nipple-areola complex (TBN) classification. Thoracic anomalies were classified as follows: thorax (T), from T1 (muscle defect only) to T4 (complex deformity with rib and sternal involvement); breast (B), in B1 (hypoplasia) or B2 (amastia); and nipple-areola complex (N), from N1 (dislocation <2 cm) to N3 (athelia). RESULTS: The most frequent thoracic anomalies were T1 (47 percent) and N2 (74 percent), whereas in female patients, B1 was more frequent than B2. The surgical approach to breast and pectoral reconstruction was based not only on the patient's age and sex, but also on the type of anomaly according to the TBN classification. In particular, a two-step approach with tissue expanders was required in N2 and N3 cases, whereas in N1 patients a single step was sufficient. CONCLUSION: The TBN classification can be a useful tool for surgical decision-making according to each specific thoracic anomaly. CLINICAL QUESTION/LEVEL OF EVIDENCE: Diagnostic, IV.

Secuencia de Poland, de las bases embriológicas a la práctica clínica / Poland sequence, going from the embryological bases to the clinical practice

La secuencia de Poland es un defecto congénito típicamente descrito como la ausencia congénita unilateral del músculo pectoral, que puede encontrarse asociado a la aparición de otras anomalías torácicas ipsilaterales y/o de extremidades superiores, las cuales abarcan diferentes grados de severidad funcional y de alteraciones estéticas. En la literatura se describen distintas asociaciones con diferentes síndromes, sin embargo su etiología es aún desconocida, aunque existen varias hipótesis sobre su posible causa, y es la más aceptada aquella que hace referencia a procesos de disrupción vascular. En la práctica clínica, las formas de expresión leve pueden ser ignoradas, pero en los casos más severos es requerida la atención de grupos multidisciplinarios de especialistas para su tratamiento. Se hace una revisión sistemática de la literatura sobre la secuencia de Poland.

Poland sequence is a birth defect typically described as unilateral congenital absence of the pectoralis muscle, which may be associated with the occurrence of other ipsilateral thoracic and/or upper extremities anomalies that cover different degrees of functional severity and esthetic alterations. The literature describes various types of association with different syndromes; however, its etiology remains unknown and several hypotheses about the possible cause of this disease exist, being the most accepted the one that deals with vascular disruption processes. In the clinical practice, mild forms of expression can be ignored, but in the most severe cases, the attention of a multidisciplinary group of specialists is required for disease management. A systematic literature review on Poland sequence was made.

Clinical analysis of 113 patients with Poland syndrome.

BACKGROUND: Poland syndrome is a rare congenital anomaly characterized by the partial or complete absence of pectoral muscles, varying thoracic deformities, and hand anomalies. To date, many variants of this syndrome and its accompanying anomalies have been reported. METHODS: In our clinic, 113 patients were diagnosed with Poland syndrome between 1990 and 2014. A latissimus dorsi muscle transfer was performed on 6 of these patients. RESULTS: Out of 113 patients, 63 (55.7%) were diagnosed with the syndrome on the right side, 42 (37.1%) were diagnosed on the left side, and 8 (7%) had a bilateral diagnosis. The partial or complete absence of the pectoralis major muscle was detected in all patients. Although 81 (71.6%) patients had a complete absence of the pectoralis major muscle, 32 (28.3%) were lacking only the sternocostal head of the muscle. In the analyzed cases, Poland syndrome was also found to be accompanied by specific anomalies. The most common anomaly accompanying Poland syndrome in these patients was Sprengel deformity, seen in 18 patients. Symmetry and stabilization of the chest wall were performed in 6 patients through transfer of the latissimus dorsi muscle. CONCLUSIONS: Poland syndrome is a rare congenital anomaly, which has several variants and accompanying anomalies. The absence of several muscles in addition to the pectoral muscle can be seen in patients with Poland syndrome. Sprengel deformity is the most common accompanying anomaly. Several surgical procedures have been reported for the syndrome; for example, transposing the latissimus dorsi muscle is an effective procedure in terms of stabilizing the chest wall and providing optimum symmetric body appearance.

Hybrid procedure for Poland syndrome associated with a Gerbode-type defect.

Poland syndrome and Gerbode-type defect are both very rare congenital malformations. A combination of them is extremely uncommon and no literature has reported this before. We herein present a case of this combination in a 9-year-old boy. Besides the reconstruction of the chest wall, a device closure of the Gerbode-type defect was also planned due to the risk of infective endocarditis. In order to minimize the injury, an innovative hybrid therapeutic strategy was chosen to treat two anomalies simultaneously in one incision.