Materiały źródłowe

• #1 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8911421/

  Pectus excavatum (PE) is the most common deformity of the chest wall and is characterized by the posterior depression of the sternum and the lower costal cartilages. To date, the etiology of PE in humans remains enigmatic. […] In this systematic review, we assess scientific publications of the past two centuries addressing the issue of the origin of PE in humans. We present and discuss the histologic, genetic, biomechanical, and experimental scientific achievements that contributed to the clarification of its etiology and pathogenesis. With no clear consensus over the exact mechanism, most recent studies agree that the primordial defect leading the deformation of the anterior chest wall in PE is related to the costal hyaline cartilage structure and function. Further studies on this subject must be carried out. Genetic studies seem to be the most promising way to understand the exact mechanism of PEs origin and pathogenesis.

• #2 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://www.mdpi.com/2077-0383/11/5/1241

  Pectus excavatum (PE) is the most common deformity of the chest wall and is characterized by the posterior depression of the sternum and the lower costal cartilages. To date, the etiology of PE in humans remains enigmatic. Several etiologic hypotheses have been proposed over the past two centuries. […] With no clear consensus over the exact mechanism, most recent studies agree that the primordial defect leading the deformation of the anterior chest wall in PE is related to the costal hyaline cartilage structure and function. Further studies on this subject must be carried out. Genetic studies seem to be the most promising way to understand the exact mechanism of PE’s origin and pathogenesis. […] To date, the etiopathogenesis of PE is not fully understood. Several etiologic hypotheses have been proposed in the past two centuries. However, most of them were scientifically dismissed and now have only historic value. […] The main question is how these cartilage disturbances lead to the inward bending of the anterior chest wall. Some authors advocate for the overgrowing of the costal cartilages, while others reject this hypothesis and are in favor of a low cartilage structural strength. […] The prevailing etiologic hypothesis of the first half of the 20th century was that of the excessive diaphragmatic traction causing the posterior displacement of the sternum. […] By the mid-1950s, many surgeons noted that there were some inconsistencies with the diaphragmatic hypothesis. […] Finally, Mullard (1967) pleaded strongly against the diaphragmatic hypothesis by arguing that the traction force of the diaphragm was too mild to depress a normal structured thoracic wall, that the deformity is dynamic and not congenital, and that, if there were a contracted, fixed diaphragm, the hearth could not be displaced. He pleaded in favor of the defect of the costal cartilage as the primarily etiologic factor for PE, suggesting that there was a growing disturbance affecting the normal structure and function of the costosternal junction.

• #3 Pectus Excavatum – Birth Defect Fact Sheet

  https://birthdefects.org/pectus-excavatum/

  Pectus Excavatum is the most common chest wall deformity seen in children. PE is also called sunken chest or funnel chest. It is a abnormality of the chest characterized by depression of the lower part of the sternum (breastbone) caused by an overgrowth of cartilage between the ribs and the sternum pushing inward. The most recessed or deepest area is most often the point where the chest and abdomen meet. More severe depressions can cause the heart to be displaced to the left and cause pressure on the pulmonary artery, which carries blood from the heart to the lungs. […] The pressure placed by the depression on the pulmonary artery decreases blood flow from the heart to the lungs. This lack of blood flow, in turn causes a lack of oxygen, responsible for the fatigue and lack of endurance. If there is enough pressure placed on the artery, it is possible that a murmur could occur. A murmur is a sound created within the lung tissue related to movement of the heart that can be detected by an electrocardiogram. This is because pressure on the system causes blood flow to be rough instead of smooth. […] The cause of PE is not known, but the tendency to have PE may be found more frequently in some families. PE may also be associated with Polands Syndrome, Marfans Syndrome, scoliosis and other musculoskeletal abnormalities.

• #4 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8911421/

  To date, the etiopathogenesis of PE is not fully understood. Several etiologic hypotheses have been proposed in the past two centuries. However, most of them were scientifically dismissed and now have only historic value. With no clear consensus over the exact mechanism, most of the contemporary studies indicate that the origin of the disease is to be found in an ultrastructural disorder of the costal cartilage. The main question is how these cartilage disturbances lead to the inward bending of the anterior chest wall. […] The prevailing etiologic hypothesis of the first half of the 20th century was that of the excessive diaphragmatic traction causing the posterior displacement of the sternum. […] By the mid-1950s, many surgeons noted that there were some inconsistencies with the diaphragmatic hypothesis.

• #5 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://www.mdpi.com/2077-0383/11/5/1241

  Pectus excavatum (PE) is the most common deformity of the chest wall and is characterized by the posterior depression of the sternum and the lower costal cartilages. To date, the etiology of PE in humans remains enigmatic. Several etiologic hypotheses have been proposed over the past two centuries. […] With no clear consensus over the exact mechanism, most recent studies agree that the primordial defect leading the deformation of the anterior chest wall in PE is related to the costal hyaline cartilage structure and function. Further studies on this subject must be carried out. Genetic studies seem to be the most promising way to understand the exact mechanism of PE’s origin and pathogenesis. […] To date, the etiopathogenesis of PE is not fully understood. Several etiologic hypotheses have been proposed in the past two centuries. However, most of them were scientifically dismissed and now have only historic value. […] The main question is how these cartilage disturbances lead to the inward bending of the anterior chest wall. Some authors advocate for the overgrowing of the costal cartilages, while others reject this hypothesis and are in favor of a low cartilage structural strength. […] The prevailing etiologic hypothesis of the first half of the 20th century was that of the excessive diaphragmatic traction causing the posterior displacement of the sternum. […] By the mid-1950s, many surgeons noted that there were some inconsistencies with the diaphragmatic hypothesis. […] Finally, Mullard (1967) pleaded strongly against the diaphragmatic hypothesis by arguing that the traction force of the diaphragm was too mild to depress a normal structured thoracic wall, that the deformity is dynamic and not congenital, and that, if there were a contracted, fixed diaphragm, the hearth could not be displaced. He pleaded in favor of the defect of the costal cartilage as the primarily etiologic factor for PE, suggesting that there was a growing disturbance affecting the normal structure and function of the costosternal junction.

• #6 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8911421/

  Finally, Mullard (1967) pleaded strongly against the diaphragmatic hypothesis by arguing that the traction force of the diaphragm was too mild to depress a normal structured thoracic wall, that the deformity is dynamic and not congenital, and that, if there were a contracted, fixed diaphragm, the hearth could not be displaced. He pleaded in favor of the defect of the costal cartilage as the primarily etiologic factor for PE, suggesting that there was a growing disturbance affecting the normal structure and function of the costosternal junction. […] In the second half of the 20th century, the diaphragmatic hypothesis became obsolete, and there was a paradigm shift in the etiopathogenesis of PE. Reports associating PE with collagen diseases such as Marfan syndrome had been available since the turn of the century, and based on this, several authors stated that a growing disturbance in the costal cartilages was the most probable cause for PE.

• #7 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://www.mdpi.com/2077-0383/11/5/1241

  In summary, there is strong evidence that PE has a strong genetic component. […] The most recent studies suggest that there is no single genic or chromosomal defect responsible for PE and that the disease etiology is most likely multifactorial. […] The GAL3ST4 gene and the TINAG gene were found to be mutated in patients with PE, and the deletion of the Gpr126 gene leads to PE and AIS in mouse models. […] Nevertheless, genetic aspects of PE are consistent with the histologic aspects, meaning that both indicate that the causes of the PE in humans is related to the normal structure and function of the costal cartilages. […] In the past several decades, significant progress has been made in deciphering the circumstances in which PE deformity in the chest wall occurs in humans. […] The primordial defect leading the deformation of the anterior chest wall is related to the costal hyaline cartilage structure and function. In regard to this, there are two main currents: the overgrowth of the costal cartilage hypothesis, and the hypothesis of the chest wall collapse due to the weak costal cartilage. Even though recent histologic, imagistic, and experimental studies point to this last-mentioned hypothesis, it has not been fully demonstrated. There is most likely an intricate mechanism by which a faulty growing pattern and altered physical features of the costal cartilages work in conjunction to induce PE deformation of the chest wall.

• #8 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8911421/

  The current majoritarian perspective over the ethology of PE identifies an abnormality in the structure, function, and/or physical features of the costal cartilage as the etiologic factor for the chest deformation. […] Almost all histologic studies to date revealed disturbances in the composition and structure of the extracellular matrix of costal cartilages in patients with PE. It seems like the structure of the collagen II fibers is perturbed, so it decreases its stability and structural strength. […] The overgrowth of the costal cartilage became the favorite etiologic hypothesis. According to this hypothesis, costal cartilages grow excessively compared with the other components of the thoracic cage, pushing the sternum backwards or, less frequently, forwards, producing pectus carinatum.

• #9 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://www.mdpi.com/2077-0383/11/5/1241

  In the second half of the 20th century, the diaphragmatic hypothesis became obsolete, and there was a paradigm shift in the etiopathogenesis of PE. […] The overgrowth of the costal cartilage became the favorite etiologic hypothesis. According to this hypothesis, costal cartilages grow excessively compared with the other components of the thoracic cage, pushing the sternum backwards or, less frequently, forwards, producing pectus carinatum. […] Most of the research is now focused on finding the cartilage disturbances that lead to the deformity of the chest wall. […] The current majoritarian perspective over the ethology of PE identifies an abnormality in the structure, function, and/or physical features of the costal cartilage as the etiologic factor for the chest deformation. […] Almost all histologic studies to date revealed disturbances in the composition and structure of the extracellular matrix of costal cartilages in patients with PE. […] Summarizing this section, there is no doubt that the normal structure and function of costal cartilages is deeply disturbed in patients with PE. […] However, it is not mandatory that the two hypotheses are mutually exclusive; both abnormal growth and disturbed biomechanical proprieties might play a role in the deformation of costal cartilages in PE.

• #10 Pectus excavatum – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/pectus-excavatum/symptoms-causes/syc-20355483

  Pectus excavatum is a condition in which the breastbone is sunken into the chest. If the condition is very serious, it can affect how well the heart and lungs work over time. […] The exact cause of pectus excavatum isn’t clear. When the condition is serious, it can affect how well the heart and lungs work over time. […] Some experts think it has to do with connective tissue called cartilage. Cartilage that connects the breastbone to the ribs may develop in an irregular way. Genes may play a role in this process. […] If the depth of the dent in the breastbone is serious, the lungs may not have enough room to fully expand. This also can squeeze the heart. The heart may be pushed to the left and may not pump blood as well as it should. This can cause symptoms such as being less able to exercise, shortness of breath, fast heart rate, and chest pain or pressure.

• #11 Pectus Excavatum | Cedars-Sinai

  https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/pectus-excavatum.html

  Pectus excavatum is caused by an overgrowth of cartilage as the chest wall is developing before birth. […] In pectus excavatum, the cartilage is extra long and pushes the breastbone backward.

• #12 Chest Wall Deformities: Overview, Pectus Excavatum, Surgical Repair of Pectus Excavatum

  https://emedicine.medscape.com/article/906078-overview

  Several theories explain the cause of pectus excavatum; however, the etiology remains obscure. Some authors believe that pectus excavatum may be due to an overgrowth of costal cartilage, which displaces the sternum posteriorly. Abnormalities of the diaphragm, rickets, or elevated intrauterine pressure are also theorized to cause posterior displacement of the sternum. […] The coexistence of pectus excavatum with other musculoskeletal disorders, such as Marfan syndrome and Ehlers-Danlos syndrome, suggests that an abnormality of connective tissue may be involved. In addition, 40% of patients with pectus excavatum have a familial history, suggesting a possible genetic predisposition. […] The impact of pectus excavatum on the cardiopulmonary system continues to be debated due to the contradictory results of studies.

• #13 Pectus Excavatum: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17328-pectus-excavatum

  Pectus excavatum is an abnormal, inward-growing sternum (breastbone). This creates a noticeable and sometimes severe indentation of your chest wall that involves four or five ribs per side. […] Other names for pectus excavatum are sunken chest or funnel chest. This condition gives you less space in your chest, which can limit heart and lung function. […] For many people, their pectus excavatum causes are unknown. But some people get it as part of a connective tissue disease like Marfan syndrome or Ehlers-Danlos syndrome. […] Researchers haven’t found a specific genetic link yet. But they suspect there is one. About 40% to 53% of people with pectus excavatum have a biological family member with the same condition. […] Pectus excavatum is associated with impaired exercise tolerance, mitral valve prolapse (leaky heart valve), and compression of your heart.

• #14 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8911421/

  The structural strength of the costal cartilages, meaning the weakness of the costal cartilages, is directly related to the PE deformation of the chest wall. The overgrowth of the costal cartilages alone cannot explain the deformation of the chest wall in PE patients. […] In summary, there is strong evidence that PE has a strong genetic component. The disease may be inherited in up to 45% of cases and is most likely subject to an autosomal recessive inheritance mechanism. […] The primordial defect leading the deformation of the anterior chest wall is related to the costal hyaline cartilage structure and function. In regard to this, there are two main currents: the overgrowth of the costal cartilage hypothesis, and the hypothesis of the chest wall collapse due to the weak costal cartilage. Even though recent histologic, imagistic, and experimental studies point to this last-mentioned hypothesis, it has not been fully demonstrated. There is most likely an intricate mechanism by which a faulty growing pattern and altered physical features of the costal cartilages work in conjunction to induce PE deformation of the chest wall.

• #15 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://www.mdpi.com/2077-0383/11/5/1241

  In the second half of the 20th century, the diaphragmatic hypothesis became obsolete, and there was a paradigm shift in the etiopathogenesis of PE. […] The overgrowth of the costal cartilage became the favorite etiologic hypothesis. According to this hypothesis, costal cartilages grow excessively compared with the other components of the thoracic cage, pushing the sternum backwards or, less frequently, forwards, producing pectus carinatum. […] Most of the research is now focused on finding the cartilage disturbances that lead to the deformity of the chest wall. […] The current majoritarian perspective over the ethology of PE identifies an abnormality in the structure, function, and/or physical features of the costal cartilage as the etiologic factor for the chest deformation. […] Almost all histologic studies to date revealed disturbances in the composition and structure of the extracellular matrix of costal cartilages in patients with PE. […] Summarizing this section, there is no doubt that the normal structure and function of costal cartilages is deeply disturbed in patients with PE. […] However, it is not mandatory that the two hypotheses are mutually exclusive; both abnormal growth and disturbed biomechanical proprieties might play a role in the deformation of costal cartilages in PE.

• #16 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8911421/

  The current majoritarian perspective over the ethology of PE identifies an abnormality in the structure, function, and/or physical features of the costal cartilage as the etiologic factor for the chest deformation. […] Almost all histologic studies to date revealed disturbances in the composition and structure of the extracellular matrix of costal cartilages in patients with PE. It seems like the structure of the collagen II fibers is perturbed, so it decreases its stability and structural strength. […] The overgrowth of the costal cartilage became the favorite etiologic hypothesis. According to this hypothesis, costal cartilages grow excessively compared with the other components of the thoracic cage, pushing the sternum backwards or, less frequently, forwards, producing pectus carinatum.

• #17 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8911421/

  The structural strength of the costal cartilages, meaning the weakness of the costal cartilages, is directly related to the PE deformation of the chest wall. The overgrowth of the costal cartilages alone cannot explain the deformation of the chest wall in PE patients. […] In summary, there is strong evidence that PE has a strong genetic component. The disease may be inherited in up to 45% of cases and is most likely subject to an autosomal recessive inheritance mechanism. […] The primordial defect leading the deformation of the anterior chest wall is related to the costal hyaline cartilage structure and function. In regard to this, there are two main currents: the overgrowth of the costal cartilage hypothesis, and the hypothesis of the chest wall collapse due to the weak costal cartilage. Even though recent histologic, imagistic, and experimental studies point to this last-mentioned hypothesis, it has not been fully demonstrated. There is most likely an intricate mechanism by which a faulty growing pattern and altered physical features of the costal cartilages work in conjunction to induce PE deformation of the chest wall.

• #18 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://www.mdpi.com/2077-0383/11/5/1241

  In summary, there is strong evidence that PE has a strong genetic component. […] The most recent studies suggest that there is no single genic or chromosomal defect responsible for PE and that the disease etiology is most likely multifactorial. […] The GAL3ST4 gene and the TINAG gene were found to be mutated in patients with PE, and the deletion of the Gpr126 gene leads to PE and AIS in mouse models. […] Nevertheless, genetic aspects of PE are consistent with the histologic aspects, meaning that both indicate that the causes of the PE in humans is related to the normal structure and function of the costal cartilages. […] In the past several decades, significant progress has been made in deciphering the circumstances in which PE deformity in the chest wall occurs in humans. […] The primordial defect leading the deformation of the anterior chest wall is related to the costal hyaline cartilage structure and function. In regard to this, there are two main currents: the overgrowth of the costal cartilage hypothesis, and the hypothesis of the chest wall collapse due to the weak costal cartilage. Even though recent histologic, imagistic, and experimental studies point to this last-mentioned hypothesis, it has not been fully demonstrated. There is most likely an intricate mechanism by which a faulty growing pattern and altered physical features of the costal cartilages work in conjunction to induce PE deformation of the chest wall.

• #19 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8911421/

  The structural strength of the costal cartilages, meaning the weakness of the costal cartilages, is directly related to the PE deformation of the chest wall. The overgrowth of the costal cartilages alone cannot explain the deformation of the chest wall in PE patients. […] In summary, there is strong evidence that PE has a strong genetic component. The disease may be inherited in up to 45% of cases and is most likely subject to an autosomal recessive inheritance mechanism. […] The primordial defect leading the deformation of the anterior chest wall is related to the costal hyaline cartilage structure and function. In regard to this, there are two main currents: the overgrowth of the costal cartilage hypothesis, and the hypothesis of the chest wall collapse due to the weak costal cartilage. Even though recent histologic, imagistic, and experimental studies point to this last-mentioned hypothesis, it has not been fully demonstrated. There is most likely an intricate mechanism by which a faulty growing pattern and altered physical features of the costal cartilages work in conjunction to induce PE deformation of the chest wall.

• #20 Pectus Excavatum: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17328-pectus-excavatum

  Pectus excavatum is an abnormal, inward-growing sternum (breastbone). This creates a noticeable and sometimes severe indentation of your chest wall that involves four or five ribs per side. […] Other names for pectus excavatum are sunken chest or funnel chest. This condition gives you less space in your chest, which can limit heart and lung function. […] For many people, their pectus excavatum causes are unknown. But some people get it as part of a connective tissue disease like Marfan syndrome or Ehlers-Danlos syndrome. […] Researchers haven’t found a specific genetic link yet. But they suspect there is one. About 40% to 53% of people with pectus excavatum have a biological family member with the same condition. […] Pectus excavatum is associated with impaired exercise tolerance, mitral valve prolapse (leaky heart valve), and compression of your heart.

• #21 Chest Wall Deformities: Overview, Pectus Excavatum, Surgical Repair of Pectus Excavatum

  https://emedicine.medscape.com/article/906078-overview

  Several theories explain the cause of pectus excavatum; however, the etiology remains obscure. Some authors believe that pectus excavatum may be due to an overgrowth of costal cartilage, which displaces the sternum posteriorly. Abnormalities of the diaphragm, rickets, or elevated intrauterine pressure are also theorized to cause posterior displacement of the sternum. […] The coexistence of pectus excavatum with other musculoskeletal disorders, such as Marfan syndrome and Ehlers-Danlos syndrome, suggests that an abnormality of connective tissue may be involved. In addition, 40% of patients with pectus excavatum have a familial history, suggesting a possible genetic predisposition. […] The impact of pectus excavatum on the cardiopulmonary system continues to be debated due to the contradictory results of studies.

• #22 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://www.mdpi.com/2077-0383/11/5/1241

  In summary, there is strong evidence that PE has a strong genetic component. […] The most recent studies suggest that there is no single genic or chromosomal defect responsible for PE and that the disease etiology is most likely multifactorial. […] The GAL3ST4 gene and the TINAG gene were found to be mutated in patients with PE, and the deletion of the Gpr126 gene leads to PE and AIS in mouse models. […] Nevertheless, genetic aspects of PE are consistent with the histologic aspects, meaning that both indicate that the causes of the PE in humans is related to the normal structure and function of the costal cartilages. […] In the past several decades, significant progress has been made in deciphering the circumstances in which PE deformity in the chest wall occurs in humans. […] The primordial defect leading the deformation of the anterior chest wall is related to the costal hyaline cartilage structure and function. In regard to this, there are two main currents: the overgrowth of the costal cartilage hypothesis, and the hypothesis of the chest wall collapse due to the weak costal cartilage. Even though recent histologic, imagistic, and experimental studies point to this last-mentioned hypothesis, it has not been fully demonstrated. There is most likely an intricate mechanism by which a faulty growing pattern and altered physical features of the costal cartilages work in conjunction to induce PE deformation of the chest wall.

• #23 Chest Wall Deformities: Overview, Pectus Excavatum, Surgical Repair of Pectus Excavatum

  https://emedicine.medscape.com/article/906078-overview

  Several theories explain the cause of pectus excavatum; however, the etiology remains obscure. Some authors believe that pectus excavatum may be due to an overgrowth of costal cartilage, which displaces the sternum posteriorly. Abnormalities of the diaphragm, rickets, or elevated intrauterine pressure are also theorized to cause posterior displacement of the sternum. […] The coexistence of pectus excavatum with other musculoskeletal disorders, such as Marfan syndrome and Ehlers-Danlos syndrome, suggests that an abnormality of connective tissue may be involved. In addition, 40% of patients with pectus excavatum have a familial history, suggesting a possible genetic predisposition. […] The impact of pectus excavatum on the cardiopulmonary system continues to be debated due to the contradictory results of studies.

• #24 Pectus excavatum – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/pectus-excavatum/symptoms-causes/syc-20355483

  Pectus excavatum is a condition in which the breastbone is sunken into the chest. If the condition is very serious, it can affect how well the heart and lungs work over time. […] The exact cause of pectus excavatum isn’t clear. When the condition is serious, it can affect how well the heart and lungs work over time. […] Some experts think it has to do with connective tissue called cartilage. Cartilage that connects the breastbone to the ribs may develop in an irregular way. Genes may play a role in this process. […] If the depth of the dent in the breastbone is serious, the lungs may not have enough room to fully expand. This also can squeeze the heart. The heart may be pushed to the left and may not pump blood as well as it should. This can cause symptoms such as being less able to exercise, shortness of breath, fast heart rate, and chest pain or pressure.

• #25 Pectus Excavatum: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17328-pectus-excavatum

  Pectus excavatum is an abnormal, inward-growing sternum (breastbone). This creates a noticeable and sometimes severe indentation of your chest wall that involves four or five ribs per side. […] Other names for pectus excavatum are sunken chest or funnel chest. This condition gives you less space in your chest, which can limit heart and lung function. […] For many people, their pectus excavatum causes are unknown. But some people get it as part of a connective tissue disease like Marfan syndrome or Ehlers-Danlos syndrome. […] Researchers haven’t found a specific genetic link yet. But they suspect there is one. About 40% to 53% of people with pectus excavatum have a biological family member with the same condition. […] Pectus excavatum is associated with impaired exercise tolerance, mitral valve prolapse (leaky heart valve), and compression of your heart.

• #26 What is Pectus Excavatum ?

  https://pectusup.com/en/pectus-excavatum/

  Pectus Excavatum Pathophysiology […] Approximately half of the cases affected by Pectus Excavatum will present clinical symptoms that will be due to the pathophysiological alteration of the malformation. Therefore, there will be a large population of patients with Pectus Excavatum who will not probably have symptoms or, consequently, criteria for correction. […] In affected cases, the shortening of the anteroposterior diameter of the thorax causes a deviation of the mediastinal viscera, generally towards the left hemithorax, which leads to a deviation of the cardiac axis to the left and a restrictive ventilatory pattern. […] In these cases, a deficit in blood filling in the right chambers of the heart can also be detected; cardiac displacement/rotation with a consequent decrease in left ventricular stroke volume, and reduced ability to pump efficiently; mitral valve prolapse; arrhythmias; or ventricular hypertrophy due to axis deviation.

• #27 Pectus excavatum – Wikipedia

  https://en.wikipedia.org/wiki/Pectus_excavatum

  Pectus excavatum is a structural deformity of the anterior thoracic wall in which the sternum and rib cage are shaped abnormally. This produces a caved-in or sunken appearance of the chest. It can either be present at birth or develop after puberty. […] Pectus excavatum can impair cardiac and respiratory function and cause pain in the chest and back. […] Physiologically, increased pressure in utero, rickets and increased traction on the sternum due to abnormalities of the diaphragm have been postulated as specific mechanisms. […] Because the heart is located behind the sternum, and because individuals with pectus excavatum have been shown to have visible deformities of the heart seen both on radiological imaging and after autopsies, it has been hypothesized that there is impairment of the function of the cardiovascular system in individuals with pectus excavatum.

• #28 Diminished pulmonary function in pectus excavatum: from denying the problem to finding the mechanism – Kelly Jr- Annals of Cardiothoracic Surgery

  https://www.annalscts.com/article/view/11845/12231

  Recently, technical improvement in the ability to measure lung function and the severity of chest deformity have enabled progress in understanding the mechanism of limitations of lung function in pectus excavatum. […] A mechanism for this effect is seen by oculo electronic plethysmography, which demonstrates that the depressed portion of the chest does not move on respiration. […] The heart and lungs are a coupled system, so that effects on one system will likely affect the other. […] The chest wall disease itself does not affect the airways or pulmonary parenchyma except by mechanical compression. […] It has been recognized that most otherwise healthy teenage pectus patients do not suffer from pulmonary parenchymal disease or airway disease. […] The mechanism to draw air into the chest is simple: increasing the intrathoracic volume decreases the pressure below atmospheric pressure, and opening the airway to the atmosphere causes air to flow from high to low pressure areas.

• #29 Diminished pulmonary function in pectus excavatum: from denying the problem to finding the mechanism – Kelly Jr- Annals of Cardiothoracic Surgery

  https://www.annalscts.com/article/view/11845/html

  Recently, technical improvement in the ability to measure lung function and the severity of chest deformity have enabled progress in understanding the mechanism of limitations of lung function in pectus excavatum. […] A mechanism for this effect is seen by oculo electronic plethysmography, which demonstrates that the depressed portion of the chest does not move on respiration. […] Following the Nuss procedure, chest wall motion, including at the site of the former depression, was indistinguishable from controls, even with the bar in place. There were marked increases in thoracic compartment volumes, including a gain of more than a liter in total chest wall volume. […] Increased understanding of the pathophysiology of pectus excavatum should move on to discussions of mechanisms of dysfunction.

• #30 Diminished pulmonary function in pectus excavatum: from denying the problem to finding the mechanism – Kelly Jr- Annals of Cardiothoracic Surgery

  https://www.annalscts.com/article/view/11845/12231

  The airflow in and out of the chest is only different in pectus patients in the effectiveness of the bellows action of the chest. […] OEP has demonstrated that the lower portion of the sternum does not move well in patients with pectus excavatum, and that the movement of the affected area is normal postoperatively. […] This is less efficient during exercise, and explains the lack of endurance cited by two-thirds of patients in our data. After surgical correction, breathing is more efficient.

• #31 Diminished pulmonary function in pectus excavatum: from denying the problem to finding the mechanism – Kelly Jr- Annals of Cardiothoracic Surgery

  https://www.annalscts.com/article/view/11845/html

  The airflow in and out of the chest is only different in pectus patients in the effectiveness of the bellows action of the chest. […] This is less efficient during exercise, and explains the lack of endurance cited by two-thirds of patients in our data. After surgical correction, breathing is more efficient.

• #32 What is Pectus Excavatum ?

  https://pectusup.com/en/pectus-excavatum/

  Pectus Excavatum Pathophysiology […] Approximately half of the cases affected by Pectus Excavatum will present clinical symptoms that will be due to the pathophysiological alteration of the malformation. Therefore, there will be a large population of patients with Pectus Excavatum who will not probably have symptoms or, consequently, criteria for correction. […] In affected cases, the shortening of the anteroposterior diameter of the thorax causes a deviation of the mediastinal viscera, generally towards the left hemithorax, which leads to a deviation of the cardiac axis to the left and a restrictive ventilatory pattern. […] In these cases, a deficit in blood filling in the right chambers of the heart can also be detected; cardiac displacement/rotation with a consequent decrease in left ventricular stroke volume, and reduced ability to pump efficiently; mitral valve prolapse; arrhythmias; or ventricular hypertrophy due to axis deviation.

• #33 Diminished pulmonary function in pectus excavatum: from denying the problem to finding the mechanism – Kelly Jr- Annals of Cardiothoracic Surgery

  https://www.annalscts.com/article/view/11845/html

  The airflow in and out of the chest is only different in pectus patients in the effectiveness of the bellows action of the chest. […] This is less efficient during exercise, and explains the lack of endurance cited by two-thirds of patients in our data. After surgical correction, breathing is more efficient.

• #34 What is Pectus Excavatum ?

  https://pectusup.com/en/pectus-excavatum/

  Pectus Excavatum Pathophysiology […] Approximately half of the cases affected by Pectus Excavatum will present clinical symptoms that will be due to the pathophysiological alteration of the malformation. Therefore, there will be a large population of patients with Pectus Excavatum who will not probably have symptoms or, consequently, criteria for correction. […] In affected cases, the shortening of the anteroposterior diameter of the thorax causes a deviation of the mediastinal viscera, generally towards the left hemithorax, which leads to a deviation of the cardiac axis to the left and a restrictive ventilatory pattern. […] In these cases, a deficit in blood filling in the right chambers of the heart can also be detected; cardiac displacement/rotation with a consequent decrease in left ventricular stroke volume, and reduced ability to pump efficiently; mitral valve prolapse; arrhythmias; or ventricular hypertrophy due to axis deviation.

• #35 What is Pectus Excavatum ?

  https://pectusup.com/en/pectus-excavatum/

  Pectus Excavatum Pathophysiology […] Approximately half of the cases affected by Pectus Excavatum will present clinical symptoms that will be due to the pathophysiological alteration of the malformation. Therefore, there will be a large population of patients with Pectus Excavatum who will not probably have symptoms or, consequently, criteria for correction. […] In affected cases, the shortening of the anteroposterior diameter of the thorax causes a deviation of the mediastinal viscera, generally towards the left hemithorax, which leads to a deviation of the cardiac axis to the left and a restrictive ventilatory pattern. […] In these cases, a deficit in blood filling in the right chambers of the heart can also be detected; cardiac displacement/rotation with a consequent decrease in left ventricular stroke volume, and reduced ability to pump efficiently; mitral valve prolapse; arrhythmias; or ventricular hypertrophy due to axis deviation.

• #36 What is Pectus Excavatum ?

  https://pectusup.com/en/pectus-excavatum/

  Pectus Excavatum Pathophysiology […] Approximately half of the cases affected by Pectus Excavatum will present clinical symptoms that will be due to the pathophysiological alteration of the malformation. Therefore, there will be a large population of patients with Pectus Excavatum who will not probably have symptoms or, consequently, criteria for correction. […] In affected cases, the shortening of the anteroposterior diameter of the thorax causes a deviation of the mediastinal viscera, generally towards the left hemithorax, which leads to a deviation of the cardiac axis to the left and a restrictive ventilatory pattern. […] In these cases, a deficit in blood filling in the right chambers of the heart can also be detected; cardiac displacement/rotation with a consequent decrease in left ventricular stroke volume, and reduced ability to pump efficiently; mitral valve prolapse; arrhythmias; or ventricular hypertrophy due to axis deviation.

• #37 What is Pectus Excavatum ?

  https://pectusup.com/en/pectus-excavatum/

  Pectus Excavatum Pathophysiology […] Approximately half of the cases affected by Pectus Excavatum will present clinical symptoms that will be due to the pathophysiological alteration of the malformation. Therefore, there will be a large population of patients with Pectus Excavatum who will not probably have symptoms or, consequently, criteria for correction. […] In affected cases, the shortening of the anteroposterior diameter of the thorax causes a deviation of the mediastinal viscera, generally towards the left hemithorax, which leads to a deviation of the cardiac axis to the left and a restrictive ventilatory pattern. […] In these cases, a deficit in blood filling in the right chambers of the heart can also be detected; cardiac displacement/rotation with a consequent decrease in left ventricular stroke volume, and reduced ability to pump efficiently; mitral valve prolapse; arrhythmias; or ventricular hypertrophy due to axis deviation.

• #38 Pectus Excavatum: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17328-pectus-excavatum

  Pectus excavatum is an abnormal, inward-growing sternum (breastbone). This creates a noticeable and sometimes severe indentation of your chest wall that involves four or five ribs per side. […] Other names for pectus excavatum are sunken chest or funnel chest. This condition gives you less space in your chest, which can limit heart and lung function. […] For many people, their pectus excavatum causes are unknown. But some people get it as part of a connective tissue disease like Marfan syndrome or Ehlers-Danlos syndrome. […] Researchers haven’t found a specific genetic link yet. But they suspect there is one. About 40% to 53% of people with pectus excavatum have a biological family member with the same condition. […] Pectus excavatum is associated with impaired exercise tolerance, mitral valve prolapse (leaky heart valve), and compression of your heart.

• #39 What is Pectus Excavatum ?

  https://pectusup.com/en/pectus-excavatum/

  Pectus Excavatum Pathophysiology […] Approximately half of the cases affected by Pectus Excavatum will present clinical symptoms that will be due to the pathophysiological alteration of the malformation. Therefore, there will be a large population of patients with Pectus Excavatum who will not probably have symptoms or, consequently, criteria for correction. […] In affected cases, the shortening of the anteroposterior diameter of the thorax causes a deviation of the mediastinal viscera, generally towards the left hemithorax, which leads to a deviation of the cardiac axis to the left and a restrictive ventilatory pattern. […] In these cases, a deficit in blood filling in the right chambers of the heart can also be detected; cardiac displacement/rotation with a consequent decrease in left ventricular stroke volume, and reduced ability to pump efficiently; mitral valve prolapse; arrhythmias; or ventricular hypertrophy due to axis deviation.

• #40 Pectus Excavatum and Carinatum

  https://pediatricsurgery.wustl.edu/patient-care/congenital-and-pediatric-conditions/pectus-excavatum/

  The deformity is thought to be caused by excessive growth of the costal cartilages (ribs), although the reason for this is unknown. […] This overgrowth causes the ribs and cartilages to buckle and pushes the sternum either inward or outward. […] Moderate to very severe defects, in which the heart is displaced to the left of the sternum, or the midline, place undue pressure on the lung artery or pulmonary artery, which carries blood from the heart to the lungs. […] An EKG also can demonstrate strain on the right side of the heart. […] The continuous beating of the heart against a firm bone also may lead to arrhythmias (irregular heart beats). […] It is important to recognize that the pectus excavatum deformity is not just a cosmetic problem. […] The standard pectus repair of these deformities has been to operate on both sides of the chest, put a plate behind the sternum and then perform a second operation to remove the plate after a year or so.

• #41 What is Pectus Excavatum ?

  https://pectusup.com/en/pectus-excavatum/

  Pectus Excavatum Pathophysiology […] Approximately half of the cases affected by Pectus Excavatum will present clinical symptoms that will be due to the pathophysiological alteration of the malformation. Therefore, there will be a large population of patients with Pectus Excavatum who will not probably have symptoms or, consequently, criteria for correction. […] In affected cases, the shortening of the anteroposterior diameter of the thorax causes a deviation of the mediastinal viscera, generally towards the left hemithorax, which leads to a deviation of the cardiac axis to the left and a restrictive ventilatory pattern. […] In these cases, a deficit in blood filling in the right chambers of the heart can also be detected; cardiac displacement/rotation with a consequent decrease in left ventricular stroke volume, and reduced ability to pump efficiently; mitral valve prolapse; arrhythmias; or ventricular hypertrophy due to axis deviation.

• #42 Chest Wall Deformities: Overview, Pectus Excavatum, Surgical Repair of Pectus Excavatum

  https://emedicine.medscape.com/article/906078-overview

  The mechanism of pectus-induced arrhythmias requires further evaluation: It is unclear if arrhythmias in this population are related to focal compressive cardiomyopathy. […] In a meta-analysis that studied the impact of pectus excavatum on the cardiovascular system, Malek et al revealed a significant improvement in cardiovascular function following surgical repair of pectus excavatum. Specifically, a 6-13% postoperative improvement in the cardiac output, stroke volume, and pulse oximetry was observed. […] The Nuss procedure has been used to treat pectus excavatum in adult patients, with a higher reported complication rate (19-58%) in this population. Also, the higher forces needed to correct the deformity can result in bar displacement in as many as 50% of patients, as well as early metal fatigue and fracture of the bar.

• #43 Rat Animal Model of Pectus Excavatum

  https://www.mdpi.com/2075-1729/10/6/96

  Pectus excavatum (PE) is the most common congenital deformity of the thoracic wall. […] Great steps have been made in understanding the pathogenesis of this disease. […] Several histologic studies revealed that not only the structure, but also the physical and chemical features of the costal cartilages are altered in PE patients versus normal patients. […] The costal cartilages reveal a disturbed growth pattern and/or disturbed structural strength leading to the inward bending of the anterior chest wall. […] However, the intimate mechanism leading from the cartilage disturbances to the chest deformity is still an unknown issue. […] In our study, the resection of the lower costal cartilage had the purpose to create a mechanical weakness in the lower area of the sternum. […] We found out that, by lowering the structural strength of the last four costal cartilages, we induced the posterior bending of the sternum in 100% of animals from the experimental group.

• #44 Rat Animal Model of Pectus Excavatum

  https://www.mdpi.com/2075-1729/10/6/96

  This deformity was visible after the first seven days after surgery and persisted on CT images throughout the next four weeks until euthanasia of the experimental animals was performed. […] We demonstrated that, once the strength of the costal cartilages is reduced, the sternum left without the support of the last costal cartilages will move to the posterior and will remain fixed in this position. […] Our study supports this theory; by reducing the structural strength of the anterior chest wall we induced a PE-like deformity in experimental animals. […] We believe this is an important aspect in order to fully understand the etiopathogenesis or conduct experimental work on animal models for PE. […] The decrease of the structural strength of the last four costal cartilages leads to a funnel like chest deformity of the sternum in experimental animals.

• #45 Pectus Excavatum – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK430918/

  The Haller index (HI) is the standard upon which to quantify the severity of a pectus excavatum deformity. It is defined as the ratio of the transverse diameter and anteroposterior diameter. The measurements are obtained from computed tomography (CT) scan; normal value is 2.5 or less. Measurement above 3.2 are considered severe. […] Surgical correction of the funnel chest attributed to a pectus excavatum defect significant improves pulmonary function at rest and VO2 max in cases in which the Hallex index measures greater than 3.2.

• #46 Pectus excavatum | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/pectus-excavatum?lang=us

  Pectus excavatum, also known as funnel chest or trichterbrust, is a congenital chest wall deformity characterized by concave depression of the sternum, resulting in cosmetic and radiographic alterations. […] The Haller index (HI) (maximal transverse diameter/narrowest AP length of chest) is used to assess the severity of incursion of the sternum into the mediastinum. Normal Haller index is 2.5 or less. Significant pectus excavatum has an index greater than 3.25, representing the standard for determining candidacy for repair. […] The depression index is computed by identifying the point of maximal depression of the sternum on the CT scan and then drawing a line across the most anterior ribs. This index uses the vertebral body diameter as a correlate to an individuals size to help normalize for body size and the variable of the thickness of the soft tissue.

• #47 Pectus Excavatum – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK430918/

  The Haller index (HI) is the standard upon which to quantify the severity of a pectus excavatum deformity. It is defined as the ratio of the transverse diameter and anteroposterior diameter. The measurements are obtained from computed tomography (CT) scan; normal value is 2.5 or less. Measurement above 3.2 are considered severe. […] Surgical correction of the funnel chest attributed to a pectus excavatum defect significant improves pulmonary function at rest and VO2 max in cases in which the Hallex index measures greater than 3.2.

• #48 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8911421/

  The current majoritarian perspective over the ethology of PE identifies an abnormality in the structure, function, and/or physical features of the costal cartilage as the etiologic factor for the chest deformation. […] Almost all histologic studies to date revealed disturbances in the composition and structure of the extracellular matrix of costal cartilages in patients with PE. It seems like the structure of the collagen II fibers is perturbed, so it decreases its stability and structural strength. […] The overgrowth of the costal cartilage became the favorite etiologic hypothesis. According to this hypothesis, costal cartilages grow excessively compared with the other components of the thoracic cage, pushing the sternum backwards or, less frequently, forwards, producing pectus carinatum.

• #49 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://www.mdpi.com/2077-0383/11/5/1241

  In the second half of the 20th century, the diaphragmatic hypothesis became obsolete, and there was a paradigm shift in the etiopathogenesis of PE. […] The overgrowth of the costal cartilage became the favorite etiologic hypothesis. According to this hypothesis, costal cartilages grow excessively compared with the other components of the thoracic cage, pushing the sternum backwards or, less frequently, forwards, producing pectus carinatum. […] Most of the research is now focused on finding the cartilage disturbances that lead to the deformity of the chest wall. […] The current majoritarian perspective over the ethology of PE identifies an abnormality in the structure, function, and/or physical features of the costal cartilage as the etiologic factor for the chest deformation. […] Almost all histologic studies to date revealed disturbances in the composition and structure of the extracellular matrix of costal cartilages in patients with PE. […] Summarizing this section, there is no doubt that the normal structure and function of costal cartilages is deeply disturbed in patients with PE. […] However, it is not mandatory that the two hypotheses are mutually exclusive; both abnormal growth and disturbed biomechanical proprieties might play a role in the deformation of costal cartilages in PE.

• #50 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8911421/

  The structural strength of the costal cartilages, meaning the weakness of the costal cartilages, is directly related to the PE deformation of the chest wall. The overgrowth of the costal cartilages alone cannot explain the deformation of the chest wall in PE patients. […] In summary, there is strong evidence that PE has a strong genetic component. The disease may be inherited in up to 45% of cases and is most likely subject to an autosomal recessive inheritance mechanism. […] The primordial defect leading the deformation of the anterior chest wall is related to the costal hyaline cartilage structure and function. In regard to this, there are two main currents: the overgrowth of the costal cartilage hypothesis, and the hypothesis of the chest wall collapse due to the weak costal cartilage. Even though recent histologic, imagistic, and experimental studies point to this last-mentioned hypothesis, it has not been fully demonstrated. There is most likely an intricate mechanism by which a faulty growing pattern and altered physical features of the costal cartilages work in conjunction to induce PE deformation of the chest wall.

• #51 Current Concepts in the Etiology and Pathogenesis of Pectus Excavatum in Humans—A Systematic Review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8911421/

  Pectus excavatum (PE) is the most common deformity of the chest wall and is characterized by the posterior depression of the sternum and the lower costal cartilages. To date, the etiology of PE in humans remains enigmatic. […] In this systematic review, we assess scientific publications of the past two centuries addressing the issue of the origin of PE in humans. We present and discuss the histologic, genetic, biomechanical, and experimental scientific achievements that contributed to the clarification of its etiology and pathogenesis. With no clear consensus over the exact mechanism, most recent studies agree that the primordial defect leading the deformation of the anterior chest wall in PE is related to the costal hyaline cartilage structure and function. Further studies on this subject must be carried out. Genetic studies seem to be the most promising way to understand the exact mechanism of PEs origin and pathogenesis.

• #52 Pectus Excavatum and Carinatum

  https://pediatricsurgery.wustl.edu/patient-care/congenital-and-pediatric-conditions/pectus-excavatum/

  The deformity is thought to be caused by excessive growth of the costal cartilages (ribs), although the reason for this is unknown. […] This overgrowth causes the ribs and cartilages to buckle and pushes the sternum either inward or outward. […] Moderate to very severe defects, in which the heart is displaced to the left of the sternum, or the midline, place undue pressure on the lung artery or pulmonary artery, which carries blood from the heart to the lungs. […] An EKG also can demonstrate strain on the right side of the heart. […] The continuous beating of the heart against a firm bone also may lead to arrhythmias (irregular heart beats). […] It is important to recognize that the pectus excavatum deformity is not just a cosmetic problem. […] The standard pectus repair of these deformities has been to operate on both sides of the chest, put a plate behind the sternum and then perform a second operation to remove the plate after a year or so.

• #53 Current Management of Pectus Excavatum: A Review and Update of Therapy and Treatment Recommendations | American Board of Family Medicine

  https://www.jabfm.org/content/23/2/230

  One theory for the worsening of symptoms that is experienced with age is that the chest wall is very compliant in infancy but, with aging, a steady decline in compliance is experienced and it becomes relatively stiffer compared with the lungs. […] Despite well-documented reports to the contrary, the longstanding misconception persists that PE is a cosmetic defect with no physiologic consequences. This misconception has resulted in patients reaching adulthood with uncorrected defects.

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