Chest Wall Deformity: An Overview

Introduction

Chest wall deformity refers to structural abnormalities or irregularities in the shape, configuration, or alignment of the chest wall. These deformities can affect the bones, cartilage, and soft tissues of the chest, leading to noticeable changes in the chest's appearance. Common chest wall deformities include pectus excavatum (sunken chest), pectus carinatum (pigeon chest), and Poland syndrome. While chest wall deformities are often considered cosmetic concerns, they can also impact respiratory function, physical performance, and psychological well-being. This article will delve into the causes, symptoms, diagnosis, and treatment options for chest wall deformity, shedding light on the various approaches available to manage this condition and enhance the quality of life for those affected.

What Are Types of Chest Wall Deformity?

The different types of chest wall deformities are as follows:

• Pectus Excavatum: Another name for this deformity is funnel or concave chest. Inwardly pushed breast bone is seen in this condition. Excessive growth in cartilage results in sterno-costal joint deformity. Children presenting this deformity show a sunken chest. Affects one in 400 children, predominantly affecting males. In severe cases, it can interfere with lung and heart functions.

• Pectus Carinatum: Another name for this deformity is pigeon chest. Protruding of breast bone occurs in the pectus excavatum. In some children, one side of the chest is raised or elevated, and in some, both sides of the chest are raised or elevated. Affects one in 500 children, mainly affecting males than females.

• Poland Syndrome: Babies are born with missing muscles or loss of tone of muscles on one side of their body, resulting in abnormality in the chest and shoulders. Mostly caused by tobacco use or drugs like Misoprostol during pregnancy. Affecting males more than females.

• Sternal Clefts: Sternal clefts are caused as the eternal bands fail to fuse in the utero phase (six to nine-week gestation). It can expose the mediastinal viscera and vessels to injuries. More common in females.

• Ectopia Cordis: It is a rare condition in which the heart does not have coverage by breastbones. The heart appears to be outside the chest.

• Jeune's Syndrome: Also known as asphyxiating thoracic dystrophy, it is a bone growth disorder showing features like a narrow neck, ribs are short, short height, extra fingers, and toes. It affects one in 120000 live births. Death occurs in the first two years of life.

• Jarcho Levin Syndrome: It is a rare genetic condition that causes abnormalities of the spine and chest.

What Are the Causes of Chest Deformity?

• The exact cause is not known but it is congenital (it runs in the family).

• Mutation in COL2A1 gene (collagen type 2 encoding).

• Eternal clefts are associated with Hoxb gene mutation.

• An autosomal recessive mutation in chromosome 7 causes Jeunes syndrome.

Chest deformity is associated with various health conditions and syndromes such as Marfan Syndrome, rickets, scoliosis, Noonan syndrome, turner syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, PHACE syndrome, and Moebius syndrome.

What Are the Signs and Symptoms of Chest Deformity?

• Indentation of the chest or protruding chest.

• Decrease exercise tolerance.

• Recurrent respiratory infections.

• Dyspnea (difficulty in breathing) and pain.

• Wheezing.

• Coughing

• Chest pain.

• Heart murmur.

• Fatigue.

• Dizziness.

• Asymmetrical breast.

• Increase the self-awareness of the child.

• Loss of confidence.

When Can Chest Deformity Be Noticed?

It can be noticed as early as one to two years old in children. It may be mild at first, but during puberty, chest deformity may become severe due to rapid changes in cartilage. Many times no other signs or symptoms are seen. Children may become very aware of their appearances.

How to Diagnose Chest Wall Deformity?

Chest wall deformity is difficult to diagnose at birth. Sometimes, it is not diagnosed until early childhood or adolescence.

• General Physical Examination: The doctor will perform a detailed physical examination and note the family history.

• Chest X-Ray: It is a painless procedure to analyze the amount of protection or indentation in the chest.

• CT (Computed Tomography) or MRI (Magnetic Resonance Imaging):These scans provide a variety of angles or cross-sections of the body's internal organs to check the extent of compression of the heart or lungs.

• Electrocardiogram: Electrocardiogram is a painless procedure to check heart rhythms and signals.

• Echocardiogram: Also called echo, it is a sonography of the heart. It checks the functioning of the valve, the heart, and blood flow.

• Lung Function Test: A lung function test is performed to check the functioning of the lungs, that is, the amount of air the lungs can hold in a breath.

• Exercise Function Test: It determines the functions and lungs together. Also known as the treadmill test or bike test.

What Are The Treatment Options for Chest Wall Deformity?

If the deformity is mild and no form and function are compromised, then no treatment is required.

1. Silicone Inserts: If the patient is not happy with the looks and the deformity is mild, silicone Inserts that look similar to silicone breast implants can be placed. If the deformity is severe, the following treatment is done,

2. Repair Surgery:

• Nuss Procedure - Small, minimally invasive incisions are placed on each side of the chest, a curved metal bar is placed beneath the depressed chest bone, and deformity is corrected. More than one bar can be used. Metal bars are removed after two-three years.

• Ravitch Technique - The large incision is placed on the chest, and the deformed cartilage is removed, attaching the ribs to the breastbone. Metal strut or metal mesh is placed for the support and is removed after 12 months. In order to block the pain post-surgery, cryoablation can be performed to freeze the nerves for four to six weeks temporarily.

3. Physical Therapy: Physical therapy is a rehabilitation therapy used to improve posture and restore function. Profound results can be achieved with physical therapy.

4. Psychiatrist Therapy: Most children are happy after the surgery and satisfied with their looks. Few might still be aware of their appearance, so a psychiatrist will help feature their confidence.

When Is the Correct Age for the Surgery?

For pectus excavatum, surgery is performed around the growth spurts or 12 to 14 years of age. For eternal clefts, surgical correction must be done in the neonatal phase; for Jarcho-Levin syndrome, surgery can be done around six months of age.

What Are the Complications Associated With Surgery?

Bleeding, infection, pneumothorax (presence of air in lungs), cardiac failure, hypoxemia (low oxygen), respiratory failure, and even death.

Conclusion

Chest wall deformities are not common diseases and, thus, are unpopular among adults. Educating parents about the genetic condition and syndromes related to chest wall deformity. Special attention should be given to the prognosis of the disease and post-operative care.