How Common Is Pectus Carinatum Or Is It A Rare Disease & Life Expectancy Of Someone With It?

Pectus carinatum is a rare condition with an incidence of 1 in 1500 children affecting four times in males when compared to females.^1,2

Ehlers-Danlos syndrome is caused by mutations in certain genes that are classified into several types based on clinical presentation, genetic defect, and type of collagen and one of the most common types is Hypermobility.³

There is no evidence that pectus excavatum curbs life expectancy or affects gradual destruction to the heart and lungs as the person advances overage.⁴

Pectus carinatum occurs in people who have genetic conditions such as Marfan syndrome, Ehlers-Danlos syndrome, metabolic disorders, Noonan syndrome, and Morquio syndrome. This is the second most common chest malformation seen in children however a rare condition affecting around 1 in every 1,500 children. Males are more frequently affected than females and the condition affects four times as many males as females. Some babies are born with this condition, but it is often not noticed until the child reaches puberty.

Marfan syndrome is a hereditary problem affecting connective tissue that is responsible to provide form and strength. The cardiovascular organs and other major blood vessels, skeletal and ocular systems are affected resulting in the overgrowth of long bones of the arms and legs, abnormal posture of the spine, and protrusion of the chest wall. The symptoms vary from person to person and in most cases, it is inherited as an autosomal dominant trait meaning the gene is inherited from the parent.^1,2

Although pectus carinatum is a rare condition, yet some children have other connective tissue disorders, including inflammation, visual disorders, and healing deficiency. A less common variant of pectus carinatum is pectus arcuatum (a rear congenital chest wall deformity with a severely protruding upper sternum) which contains both a pectus excavatum and pectus carinatum.³

Many descriptions of the anatomical variations of pectus deformity exist but most of the studies reveal only the abnormal cartilages. Several authors have suggested that abnormal collagen content is the underlying factor, and an immature collagen matrix has affected posture in children.

Apart from pectus carinatum and pectus excavatum, mixed deformities are also seen. Classification is often dependent on the severity of the complication and useful for the healthcare professionals in decision making regarding the operative approach.

However, despite abnormalities and psychological impacts, studies suggest that patients suffering from pectus excavatum have a lesser life expectancy. Symptoms include palpitations, breathlessness, and severe exhaustion during physical activity. Imaging studies (x-ray, CT scan, MRI, ultrasound) investigated severe forms of pectus excavatum and demonstrated compression of intrathoracic structures resulting in reduced thoracic volume, heart impingement or dislocation, cardiac damage, and valvular disorder.

The pain will limit chest wall expansion and arrhythmia will affect cardiac output having a shorter life expectancy. Also, these symptoms worsen with age with serious psychological impacts leading to social anxiety and depression.⁴

Pectus carinatum is a long-term condition that will not resolve on its own however they are not a life-threatening condition. The pectus abnormalities often occur during puberty, more severe during the growth spurt, and worsen in the later adult stages.

The secondary defects of pectus malformations include scoliosis, cardiovascular and pulmonary abnormalities that worsen with aging. The underlying cause of pectus carinatum is anonymous. Pectus carinatum can also be related to a range of chromosomal syndromes and patterns.

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Also Read:

• What is Pectus Carinatum & How is it Treated? | Causes, Symptoms, Diagnosis of Pectus Carinatum
• Is Pectus Carinatum A Serious Condition & Can It Be Reversed?
• What Is The Prognosis For Pectus Carinatum & Lifestyle Changes For It?
• Can Pectus Carinatum Go Away On Its Own & What Are Its Natural Remedies?
• What Happens To Untreated Pectus Carinatum & When To Go To Doctor?
• Who Is At Risk For Pectus Carinatum & Is There A Blood Test For It?
• Home Remedies/Best Exercises/Activities For Pectus Carinatum