CHEST WALL DEFORMITY

CHEST WALL DEFORMITY

1. JAMIA MILLIA ISLAMIA CENTRE FOR PHYSIOTHERAPY AND REHABILITATION SCIENCES SUBJECT: PHYSIOTHERAPY IN CARDIOPULMONARY CONDITIONS TOPIC: CHEST WALL DEFORMITY SUBJECT CODE: BPT(402) CLASS: BPT 4 TH YEAR PRESENTATION DATE: 31.12.2020 SUBMITTED TO: DR. JAMAL ALI MOIZ SUBMITTED BY: SAMEERA FAIZVI

2. INTRODUCTION: Chest wall deformities are a set of congenital diseases that span a broad spectrum of disorders. It encompass a wide range of anomalies which extend from the sternum to the vertebral column. These can manifest as isolated conditions or can correlate with extra-thoracic anomalies and genetic syndromes.  Deleterious effects can occur from birth to adolescence, ranging from life-threatening conditions to psychosocial cosmetic concerns. Regardless, the severity of the malformation usually progresses rapidly during puberty. Chest wall deformity is associated with cardiac and respiratory problems and connective tissue disorders.

3. CLASSIFICATION:

4. STERNUM DEFORMITIES: Cleft sternum is a rare congenital defect of the anterior chest wall and is the result of a failed midline fusion of the sternum. A classification proposed by Shamberger and Welch in 1990 divided sternal clefts into 4 types: Thoracic ectopia cordis : In this form of sternal cleft the heart is ectopic and devoid of a skin covering. Ectopia cordis is defined as complete or partial displacement of the heart outside the thoracic cavity. It is a rare congenital defect in fusion of the anterior chest wall resulting in extra thoracic location of the heart. Cervical ectopia cordis : In these rare defects the heart is located more cranially . Fusion between the apex of the heart and the mouth is often present, as are severe  craniofacial anomalies. Thoracoabdominal ectopia cordis : In this condition the heart is covered by a thin membranous or cutaneous layer within a caudal located defect. The heart which may be located either in the thorax or in the abdomen, is not rotated as in the previously types described, but is accompanied by intrinsic anomalies. This anomaly is a part of the Pentalogy of Cantrell. Sternum cleft : The partial deformities could have a cranial or caudal location. The caudal forms are often associated with a thoraco -abdominal ectopia cordis , whereas the cranial partial clefts exist as isolated malformations. Sternal clefts result from failure of fusion of the mesenchymal plate during the eighth embryonic week. The defect can be partial (superior or inferior) or complete.

5. TYPE 2- COSTAL CARTILAGE DEFORMITIES Pectus excavatum (PE ): Pectus excavatum (PE), or funnel chest, describes a posterior depression of the lower sternum and costal cartilages into the thoracic cavity. Cosmetic appearance is the main presenting reason in asymptomatic patients . Kuhn et al catergorised excavatum types of deformity into 4 type in terms of their morphological appearance. cup shaped (localized deep depression) Saucer shaped(diffuse superficial depression) Grand canyon(depression in the form of assymetrical long pipe) Curarino silverman deformity(pouter pigeon deformity, mixed carinatum) Aetiology: The sternal depression is thought to result from asymmetrical growth of the costochondral cartilages. However, the exact aetiology is unknown . There is an association with connective tissue disorders such as Marfan’s syndrome (21.5%) and Ehlers- Danlos syndrome (2 %). Clinical Presentation: Common symptoms attributed to PE include exercise intolerance, dyspnoea , chest pain with and without exercise, and palpitations. Patients often have a slouched posture, and young children have an associated protuberant abdomen. Almost a quarter of PE cases are associated with scoliosis, and hence the spine should be investigated in all cases .

6. Investigation: Computerized Tomography (CT) scan are necessary to access the severity of the deformity and to calculate the Haller index to estimate the severity of chest depression in patients with PE. (Haller index is the ratio of the transverse diameter and the anteroposterior diameter of the rib-cage. Haller index in a normal chest is around 2.5, but in pectus excavatum the index can reach 3.25 or even as high as 5.5) ; Chest x-rays, both anteroposterior (AP) and lateral, are routinely per-formed, which may help to define the severity of the deformity as well as help to evaluate the thoracic spine. Conservative treatment: physical exercise has an important role in conservative pectus excavatum treatment though is not seen as a means to resolve the condition on its own. It is used in order to halt or slow the progression of mild or moderate excavatum condition and as supplementary treatment to improve a poor posture to prevent secondary complications, and to prevent relapse after treatment. Exercises are aimed at  improving posture, strengthening back and chest muscles, and enhancing exercise capacity, ideally also increasing chest expansion. Pectus exercises include deep breathing and breath holding exercises as well as strength training for the back and chest muscles. Additionally, aerobic exercises to improve cardiopulmonary function are employed .

7. PECTUS CARINATUM ( PIGEON CHEST ) Pectus carinatum : pigeon chest, is a spectrum of anterior chest wall anomalies characterized by protrusion of the sternum and adjoining costal cartilages. The deformity may be classified as either chondrogladiolar or chondromanubrial, depending on the site of greatest prominence. Type 1 - Chondrogladiolar : The symmetric sternal protrusion is located in the inferior or mid sternum region. The lower ribs may be slightly or severely depressed on lateral side. Type 2 - Chondromanubrial : These have been frequently referred to as Currarino- Silverman syndrome or Pouter Pigeon Breast . Currarino-Silverman syndrome is a rare disorder characterized by premature fusion of manubrio -sternal joint and the sternal segments, resulting in a high carinate chest deformity. Aetiology: The underlying aetiology for PC is unknown and thought to be related to overgrowth of the costal cartilages. A familial incidence of PC is seen in up to 26% of patients. There is an association with connective tissue disorders, such as Marfan’s syndrome, scoliosis (34%), and congenital heart disease (6 %). Clinical presentation: Symptoms include exertional dyspnea, decreased exercise tolerance, and precordial chest pain. The majority of patients, however, present because of the cosmetic deformity. Some children with pectus carinatum also have scoliosis (i.e. curvature of the spine).

8. Investigation: Either a PA and lateral chest x-ray or a CT scan will allow good visualization of the extent of the abnormality. Any spinal abnormality should also be evaluated. The respiratory and cardiac functions should be assessed. Management / Interventions: External bracing technique:  the use of a customized chest-wall brace that applies direct pressure on the protruding area of the chest produces excellent outcomes. The brace consists of front and back compression plates that are anchored to aluminum bars. These bars are bound together by a tightening mechanism which varies from brace to brace. This device is easily hidden under clothing and must be worn from 14 to 24 hours a day. Regular supervision during the bracing period is required for optimal results. Adjustments may be needed to the brace as the child grows and the pectus improves .

9. PHYSIOTHERAPY MANAGEMENT: Postural correction and strengthening chest and back muscles may help with pectus excavatum as bad posture is implicated in the severity and prominence of the condition. The aim of exercises in this condition is to: Loose and lengthen tight or contractured tissues. Improve chest wall and spinal mobility Strengthen muscles needed for chest expansion and elevation Restore and maintain normal posture Improve and maintain lung compliance Exercises such as the use of dumbbells to strengthen the  latissimus dorsi and   rhomboids.

10. TYPE 3- RIB DEFORMITIES Based on the radiological overview on pediatric rib deformities presented in 2002, the deformities in ribs are based on their origin- congenital or acquired. Congenital deformity Cervical ribs: Cervical ribs arise from the seventh cervical vertebra. Cervical ribs are rarely symptomatic in early childhood Abnormal Number of Ribs : An alteration in the number of ribs has been found in trisomy 21 syndrome and in patients with the VATER association Abnormal Size or Shortening of Ribs: Short ribs do not extend as far anteriorly as the sternum. The resultant diminished volume of the chest restricts respiratory motion and causes respiratory insufficiency. Short ribs constitute an integral part of several syndromes.

11. TYPE 4- COMBINED COSTAL CARTILAGE AND RIB DEFORMITIES Poland Syndrome (PS ): It is a rare congenital anomaly characterized by hypoplasia of the breast and nipple, scarcity of subcutaneous tissue, absence of the costosternal portion of the pectoralis major muscle, lack of the pectoralis minor muscle, aplasia or deformity of the costal cartilages or ribs II to IV or III to V, alopecia of the axillary and mammary region, and unilateral brachysyndactyly . Many variations of the syndrome have been described, from mild hypoplasia of the pectoralis major musculature to severe hypoplasia of the thoracic wall. Etiology: The exact etiology is unknown, the proposed etiology id the disruption of subclavican arterial blood supply of limb bud during 6 th foetal week. Clinical features: anatomical abnormalities are usually unilateral. Clinically, patient have absent anterior axillary fold with posterior axillary fold being easily visible from front. The nipple and aerola may be hypoplastic or absent with deficient subcutaneous tissues. The chest is depressed on affescted side due to hypoplasia or absence of underlying 2-4 or 3-5 ribs and cartilages. Rarely lung may herniate through defect in chest wall giving flail segment. This may cause respiratory distress in newborn period.

12. Investigation: CT scan will show absent perctoralis major Prenatal sonographic evaluation can demonstrate unilateral limb defects and unilateral chest wall asymmetry and other associated anatomical defect Mammogram, hypoplasia of the unilateral breast and hypoplasia of the pectoralis major Chest radiograph findings (unilateral hyperlucent thorax). Ultrasound of the chest wall (defects of the pectoralis major and minor musculature). Management: surgical interventions

13. ASPHYXIATING THORACIC DYSPLASIA Asphyxiating thoracic dysplasia (ATD), also known as  Jeune syndrome, is a rare inherited bone growth disorder that primarily affects the thoracic region. Common signs and symptoms can include a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes.

14. REFERENCES: Chest wall deformity by amulya k saxena Chest wall deformity by Michael singh , dakshesh parikh and brian kenney https:// en.wikipedia.org/wiki/Asphyxiating_thoracic_dysplasia https:// en.wikipedia.org/wiki/Pectus_excavatum Review article on congenital chest wall deformity by Yedikule Göğüs Hastalıkları Hastanesi Ve Göğüs Cerrahisi Merkezi , İstanbul. 2 Okan Üniversitesi Tip Fakültesi Göğüs Cerrahisi A.D . Shad, J., Budhwani , K., & Biswas, R. (2012). Thoracic ectopia cordis . BMJ case reports, 2012, bcr1120115241. https:// doi.org/10.1136/bcr.11.2011.5241 Article on Poland syndrome Chandra Madhur Sharma ,  Shrawan Kumar , 1   Manoj K. Meghwani , 2   and   Ravi P. Agrawal Indian J Hum Genet. 2014 Jan-Mar; 20(1): 82–84.doi :  10.4103/0971-6866.132764 https://www.sciencedirect.com/topics/medicine-and-dentistry/ectopia-cordis https://thoracickey.com/other-chest-wall-deformities/ https://studyres.com/doc/3318151/chapter-53-chest-wall-deformities https://obgynkey.com/congenital-chest-wall-deformities/ https://physio-pedia.com/Pectus_carinatum_(_pigeon_chest_)? utm_source=physiopedia&utm_medium=search&utm_campaign=ongoing_internal Poland’s Syndrome Revisited Alexander A. Fokin , MD, PhD, and Francis Robicsek , MD, PhD The Department of Thoracic and Cardiovascular Surgery, Carolinas Heart Institute, Carolinas Medical Center , Charlotte, North Carolina Joshua, S.A., Shetty, L., Pare, V., & Sebastian, R. (2012). Chondro-manubrial deformity and bifid rib, rare variations seen in pectus carinatum: a radiological finding. Surgical and Radiologic Anatomy, 35, 443-447 . Pediatric Ribs: A Spectrum of Abnormalities by Ronald B. J. Glass, MD ● Karen I. Norton, MD ● Sandra A. Mitre, MD Eugene Kang, MD Tafti D, Cecava ND. Poland Syndrome. [Updated 2020 Nov 20]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan