Materiały źródłowe

• #1 Congenital Diaphragmatic Hernia | CDH Hospital | CHOC

  https://choc.org/programs-services/pediatric-general-surgery/diaphragmatic-hernia/

  A congenital diaphragmatic hernia (CDH) is a hole in the diaphragm that occurs during fetal development. The diaphragm is the muscle that separates the chest from the abdomen. When a hole in the diaphragm occurs, it allows abdominal organs to pass through (herniate) into the chest cavity during fetal development hindering organ growth. CDH is a life-threatening condition affecting one in every 2,500-4,000 births. The most serious complication of CDH is inadequate lung development. […] When CDH is not diagnosed prenatally, the symptoms of a congenital diaphragmatic hernia are observable soon after birth. While they vary between each child, the most common symptoms of CDH include: Breathing trouble, Rapid breathing (hyperventilating), Rapid heart rate (tachycardia), Blue skin color (cyanosis), One side of the chest is larger (Abnormal Chest Development), Belly looks caved-in (concave/scaphoid).

• #1 Congenital Diaphragmatic Hernia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK556076/

  Congenital diaphragmatic hernia (CDH) is a condition resulting from a developmental defect in the diaphragm leading to protrusion of abdominal contents into the thoracic cavity. Depending on the location of the defect in the diaphragm, the hernias can be classified into different types. Bochdalek hernias result from a defect in the postero-lateral part of the diaphragm and are the most common type (70% to 75%), with the majority occurring on the left side and less frequently on the right side. Morgagni hernias result from a defect in the anteromedial part of the diaphragm (20% to 25%), and central hernias account for 2% to 5%. Bilateral defects are very rare and associated with a poor prognosis. […] The presentation in the postnatal period depends on the size of the defect. Large diaphragmatic hernias usually present at birth with respiratory distress, cyanosis, decreased breath sounds on the affected side, displaced heart sounds, and scaphoid abdomen. Small hernias may have a delayed presentation with mild respiratory distress and/or feeding problems.

• #1 Congenital diaphragmatic hernia – Wikipedia

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

  Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm. The most common type of CDH is a Bochdalek hernia; other types include Morgagni hernia, diaphragm eventration and central tendon defects of the diaphragm. Malformation of the diaphragm allows the abdominal organs to push into the chest cavity, hindering proper lung formation. […] CDH is a life-threatening pathology in infants and a major cause of death due to two complications: pulmonary hypoplasia and pulmonary hypertension. Newborns with CDH often have severe respiratory distress which can be life-threatening unless treated appropriately. […] Infants born with diaphragmatic hernia experience respiratory failure due to both pulmonary hypertension and pulmonary hypoplasia. The first condition is a restriction of blood flow through the lungs thought to be caused by defects in the lung. Pulmonary hypoplasia or decreased lung volume is directly related to the abdominal organs presence in the chest cavity which causes the lungs to be severely undersized, especially on the side of the hernia.

• #1 Congenital Diaphragmatic Hernia (CDH): Symptoms, Diagnosis & Treatment | Nationwide Children’s Hospital

  https://www.nationwidechildrens.org/conditions/congenital-diaphragmatic-hernia

  Babies born with CDH can have small, underdeveloped lungs (pulmonary hypoplasia), as well as reduced blood flow to the lungs caused by high blood pressure in the lungs (pulmonary hypertension). These 2 problems, pulmonary hypoplasia and pulmonary hypertension, cause babies with CDH to have a lot of trouble breathing right after birth. […] Signs of CDH after birth can include: fast breathing or hard breathing (using extra muscles to help breath), a very flat belly and barrel shaped chest, cyanosis (bluish color of skin due to low oxygen levels). […] All babies with CDH will need surgery after birth, but surgery may not be done right away. It is very important to make sure the babys breathing is stable and manage the high blood pressure in the lungs before going to surgery. Surgery may be done as early as 2 to 3 days after birth, or as late at 4 to 6 weeks after birth. It is typically done 1 to 2 weeks after birth. […] Babies with CDH are at risk for ongoing problems with the lungs, including asthma and respiratory infections. They are also at risk for ongoing problems with feeding, gastrointestinal reflux, and developmental delays. These risks are higher in babies that need ECMO.

• #1 Diaphragmatic Hernia – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-gastrointestinal-anomalies/diaphragmatic-hernia

  Respiratory distress typically occurs in the first several hours after birth and occurs immediately after delivery in severe cases. […] In less severe cases, mild respiratory difficulty develops a few hours or days later as abdominal contents progressively herniate through a smaller diaphragmatic defect. […] Persistent pulmonary hypertension leads to right-to-left shunting at the level of the foramen ovale or through a patent ductus arteriosus and prevents adequate oxygenation, even with oxygen supplementation or mechanical ventilation. Persistent pulmonary hypertension is the major cause of death among infants with congenital diaphragmatic hernia.

• #1 Understanding Congenital Diaphragmatic Hernia (CDH) – Stony Brook Medicine Health News

  https://health.stonybrookmedicine.edu/understanding-congenital-diaphragmatic-hernia-cdh/

  CDH is most often diagnosed before birth during a routine ultrasound, while some cases are identified after delivery. In rare cases (about 5 percent to 10 percent of the time), CDH doesn’t cause any noticeable symptoms until later in life when someone starts experiencing trouble breathing or abdominal pain. […] Common signs and symptoms of CDH can include: […] Before Birth: […] Abnormal positioning of abdominal organs that can be seen on prenatal ultrasound […] Excessive amniotic fluid (polyhydramnios), which can indicate swallowing difficulties […] After Birth: […] Severe breathing difficulties due to underdeveloped lungs (pulmonary hypoplasia) […] A sunken or scaphoid (concave) abdomen […] Cyanosis (a bluish tint to the skin due to lack of oxygen) […] Rapid breathing or heartbeat […] Poor feeding and failure to thrive in less severe cases.

• #1 Congenital Diaphragmatic Hernia (CDH) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-diaphragmatic-hernia-cdh

  With CDH, a hole in the diaphragm allows abdominal organs to move into the chest during fetal development. […] When a baby has CDH, their lungs will be smaller than expected (pulmonary hypoplasia), and will have less developed blood vessels. This causes high blood pressure in the lungs (pulmonary hypertension). […] CDH is typically discovered during a routine prenatal ultrasound. The sonographer may notice stomach, intestine, or liver in your baby’s chest where the lungs should be. The baby’s heart may also be pushed to one side by the extra organs in the chest. […] Many babies with CDH develop a condition called pulmonary hyperplasia, which means small lungs. When they are born, they will have trouble breathing. […] The strongest prediction of the severity of CDH is the location of the liver. When the liver is up in the chest there is more pulmonary hypoplasia (small lungs).

• #1 Congenital Diaphragmatic Hernia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK556076/

  The degree of lung hypoplasia, the position of the liver, and co-existing anomalies determine the survival chances and prognosis in CDH. The lung area to head ratio is a marker of the degree of lung volume. It is calculated by measuring the lung area of the contralateral lung divided by the fetal head circumference. […] Prematurity, the size of the defect, degree of lung hypoplasia and pulmonary hypertension, and associated anomalies are some of the main factors that determine the morbidity and mortality associated with Congenital diaphragmatic hernia. With advances in ventilation strategies, management of pulmonary hypertension, and refinement of surgical techniques, the outcomes of infants with CDH have improved over the past few years. The reported overall survival rates in CDH range between 60% to 70%.

• #1 Congenital diaphragmatic hernia | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/congenital-diaphragmatic-hernia-1?lang=us

  The observed-to-expected lung-to-head ratio (O/E LHR) may be calculated and correlates with the degree of pulmonary hypoplasia. Studies suggest that the degree of lung hypoplasia can be used to predict survival rates and the numbers from the Antenatal-CDH-Registry group that apply to isolated left-sided CDH and liver herniation are shown below: O/E LHR 15% (extreme pulmonary hypoplasia): virtually no chance of survival, O/E LHR 15-25% (severe pulmonary hypoplasia): predicted survival 15%, O/E LHR 26-45% (moderate pulmonary hypoplasia): predicted survival 30-75%, O/E LHR 45% (mild pulmonary hypoplasia): very likely to survive.

• #1 Congenital diaphragmatic hernia | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/congenital-diaphragmatic-hernia-1?lang=us

  Most congenital diaphragmatic hernias are detected either soon after birth or on antenatal ultrasound. Mortality is predominantly due to the development of pulmonary hypoplasia, which is thought to be due to the mass effect on the developing lung. Such neonates are hypoxic and have persistent fetal circulation due to pulmonary hypoplasia and pulmonary hypertension. […] Large CDH have a poor prognosis, due to pulmonary hypoplasia and perinatal mortality may be as high as 80%. […] Signs suggesting a poor prognosis include: large hernia size, early gestational age at diagnosis, intra-thoracic liver, small contralateral lung, pulmonary hypertension, early ventricular dysfunction especially biventricular dysfunction, the presence of associated abnormalities, bilateral CDH, unfavorable lung: head ratio.

• #1 Congenital Diaphragmatic Hernia | Causes, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/diaphragmatic-hernias

  Congenital diaphragmatic hernia (CDH) is a medical condition that some babies are born with. It occurs when a babys diaphragm (the muscle that helps us breathe in and out) doesnt close all the way. This leaves an abnormal opening between the chest and abdomen. […] CDH can happen on either side of the diaphragm. About 83% of babies with CDH have a left diaphragmatic hernia. This condition may allow the stomach, intestines or liver to move up into the babys chest. A right diaphragmatic hernia almost always allows the liver to move up into the chest. Rarely, CDH occurs on both sides of the diaphragm. […] Since CDH prevents the lungs from growing and developing correctly, breathing problems after birth are common in children with this condition. Babies born with CDH often have the following symptoms: Bluish-colored skin due to lack of oxygen, Difficulty breathing, Fast breathing, Fast heart rate, Noisy breathing, Abnormal chest development (one side larger than the other), Sunken stomach.

• #1 Congenital Diaphragmatic Hernia | Conditions | UCSF Benioff Children’s Hospitals

  https://www.ucsfbenioffchildrens.org/conditions/congenital-diaphragmatic-hernia

  CDH is typically diagnosed before birth during routine screening tests. An ultrasound may show abdominal contents in the chest cavity. […] After birth, symptoms of congenital diaphragmatic hernia may include: Chest movements that don’t coordinate with the baby’s breathing rhythm, Breath sounds absent on the affected side, Bowel sounds heard in the chest, Concave abdomen that feels less full when touched. […] Even when the CDH is severe, however, more than 70 percent of affected babies can be saved with intensive support. However, there are often long-term health issues related to breathing, feeding, growth, hearing and development. […] The symptoms of a recurrence include retching, gagging and vomiting feedings, pain or rapid breathing. Some children will have no symptoms. If you suspect a recurrence, take your child to the emergency room and explain your child’s history and your suspicions to the emergency room team.

• #1 CDH (Congenital Diaphragmatic Hernia)

  https://www.massgeneral.org/children/congenital-diaphragmatic-hernia/cdh

  CDH is a rare birth defect that causes an opening in the muscle between the chest and abdomen and allows the abdominal organs to be displaced into the chest. This affects the development of the babys lungs. […] Many babies with CDH have lungs that are too small to function properly. This becomes dangerous after the baby is born and must use their lungs to breathe on their own. […] After birth, a baby with CDH may show Problems breathing, Abnormal chest movements, Absent breath sounds on one side of the chest, An empty seeming or appearing abdomen (belly area), Cyanosis (blue-tinted skin). […] It is common for babies with CDH to develop pulmonary hypertension after birth as a result of their underdeveloped lungs. Pulmonary hypertension is when the blood pressure in the lungs is too high. This can cause oxygen levels in the babys blood to be too low, which can be a life-threatening complication. […] The prognosis for babies with CDH depends on many factors, including the severity of their CDH before treatment and whether or not there are other birth defects present. Many babies with CDH who receive proper treatment go on to meet all of their developmental milestones by kindergarten.

• #1 Congenital diaphragmatic hernia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/congenital-diaphragmatic-hernia/

  Congenital diaphragmatic hernia is a defect in the diaphragm. […] Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete absence. […] This crowding can lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially resulting in life-threatening breathing difficulties that are apparent from birth. […] In 5 to 10 percent of affected individuals, signs and symptoms of congenital diaphragmatic hernia appear later in life and may include breathing problems or abdominal pain from protrusion of the intestine into the chest cavity. […] In about 1 percent of cases, congenital diaphragmatic hernia has no symptoms; it may be detected incidentally when medical imaging is done for other reasons.

• #1 Late-Presenting Congenital Diaphragmatic Hernia — Pediatric EM Morsels

  https://pedemmorsels.com/congenital-diaphragmatic-hernia/

  Congenital Diaphragmatic Hernia (CDH) occurs in ~1 in 3,000 live births. Most cases are diagnosed via antenatal screening or shortly after birth. Respiratory distress develops at birth or within hours/days following birth (based on extent of herniation). CDH has a high mortality rate when presenting during new-born or neonatal period. CDH may present after the neonatal period and can be more challenging to diagnose. 5-25% of patients with CDH present beyond neonatal period. Can present across a wide range of ages: 5 weeks to 14 years! Depends on timing of visceral herniation. Late presenting CDH may present: Acutely (~60% of cases) […] Insidiously: Recurrent / intermittent symptoms, Persistent tachypnea, chronic cough, constipation, failure to thrive. Late presenting CDH is difficult to diagnose due to non-specific symptoms: Respiratory Symptoms: Dyspnea, Wheeze, Cough, Tachypnea. More often seen with RIGHT sided CDH. Gastrointestinal Symptoms: Abdominal Pain, Vomiting, Diarrhea. More often seen with LEFT sided CDH. Combination of Respiratory and Gastrointestinal Symptoms. Prompt diagnosis is important. Overall, the morbidity and mortality of late presenting congenital diaphragmatic hernia is low once appropriately managed.

• #1 Diaphragmatic Hernia: Symptoms & Causes Explained – Southlake General Surgery

  https://www.southlakegeneralsurgery.com/diaphragmatic-hernia-symptoms-and-causes-explained/

  Recognizing the early signs of diaphragmatic hernia can help in early diagnosis and management. Here are a few initial indicators to be aware of: Trouble breathing: Infants with diaphragmatic hernia may experience respiratory challenges shortly after delivery. This can manifest as rapid or labored breathing, flaring of the nostrils, or retractions (visible pulling in of the chest or abdomen with each breath). High blood pressure: Due to limited space for lung development and pulmonary hypoplasia, babies with diaphragmatic hernia may experience high blood pressure in the arteries of the lungs (pulmonary hypertension). This can further impair lung function and oxygenation. Pulmonary hypoplasia: Diaphragmatic hernia can lead to underdevelopment of the lungs, known as pulmonary hypoplasia. This can result in smaller-than-expected lungs with fewer air sacs (alveoli), limiting the baby’s ability to breathe properly. […] If you suspect that your baby may have a diaphragmatic hernia, it is important to seek medical attention as soon as possible. Early diagnosis and proper medical care are crucial for the well-being of the baby.

• #1 Bochdalek hernia presenting gastrointestinal symptoms in late childhood: a case report

  https://www.kosinmedj.org/journal/view.php?doi=10.7180/kmj.22.134

  Delayed presentation of CDH in late childhood or adolescence, in this case, may be confirmed late. As a result, patient’s condition might deteriorate. […] Although CDH is usually asymptomatic for a late-presenting type, immediate surgical treatment should be performed when its diagnosed to prevent complications such as strangulation and bowel perforation. By doing this, potentially fatal consequences in the future can be avoided. […] In conclusion, CDH in late childhood or adolescence is observed to be rare. Its clinical manifestations can appear in various symptoms. To avoid complications such as strangulation and bowel perforation in many patients, emergency surgery may be required. Thus, it is necessary to suspect CDH considering children with recurrent gastrointestinal or respiratory symptoms, based on which, accurate diagnosis and successful surgical treatment can be performed.

• #1 Congenital Diaphragmatic Hernia (CDH) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-diaphragmatic-hernia-cdh

  Approximately 83% of babies with CDH have a defect on the left side of the diaphragm. A left-sided CDH allows for the possibility of the stomach, intestines, and sometimes the liver to move (herniate) up into the baby’s chest. […] The health of a baby born with CDH can change unexpectedly. This makes it critically important to deliver within the hospital where your baby will be cared for after birth, and have all specialized care immediately available in one location. […] For babies born with CDH, every little detail matters and can impact the outcome. It is important that your baby be treated by a team with experience caring for babies with CDH. […] Your baby will recover from surgery and begin the process of weaning from the ventilator. Once the baby is ready, feedings of either breast milk or formula will slowly begin through the NG or OG tube. […] Most babies with CDH cared for by CHOP meet expected growth and developmental milestones by kindergarten. Some children will need ongoing support through the PHP to optimize outcomes.

• #1 Congenital Diaphragmatic Hernia Overview – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1359/

  Infants with CDH typically require mechanical ventilation and sometimes extracorporeal membrane oxygenation (ECMO) in the newborn period. Major respiratory complications include tracheobronchomalacia, pneumothorax, and secondary lung infection (especially viral pneumonia) that could precipitate terminal respiratory failure even months after surgery. Many infants require ongoing oxygen supplementation and diuretics following surgical correction of CDH. Given the remarkable growth and recuperative capacity of the lung, these treatments can usually be discontinued within the first two years of life. […] By early childhood, few children have respiratory symptoms at rest; however, formal testing in older children shows small airway obstruction and diminished blood flow on ventilation-perfusion (V-Q) scan, especially to the lung ipsilateral to the hernia. Reduced exercise tolerance can be a lifelong problem. Intermittent wheezing requiring bronchodilator use is common in people with CDH, and they are at risk for respiratory decompensation with intercurrent illness.

• #1 Congenital Diaphragmatic Hernia | Causes, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/diaphragmatic-hernias

  Longer-term complications of CDH may include: Chronic lung disease, including bronchopulmonary dysplasia (BPD), Pulmonary hypertension (high blood pressure in the lungs), which can damage the heart, since it requires the heart to work harder to pump blood into the lungs, Gastroesophageal reflux, a condition marked by heartburn caused when acids from the stomach move into the esophagus (food tube), Slow physical development, Delays in reaching milestones such as rolling over and crawling, Hearing problems. […] The long-term outlook for babies with CDH varies depending on the severity of the CDH diagnosis. Babies with severe CDH may face life-threatening complications that limit the function of their heart, lungs or brain. These babies are often placed on life support for stabilization after birth, and they may require lifelong follow-up support for complications including: Airway disorders, Acid reflux, Delayed growth, Developmental delays, Feeding difficulties, Gastroesophageal reflux disease (GERD), Hearing loss, Muscle weakness, Pulmonary hypertension (high blood pressure in the vessels of the lungs), Seizures, Speech delays. […] Babies with mild or moderate cases of CDH typically have a much easier recovery. With early diagnosis and proper treatment, these children often go on to live normal, healthy lives without long-term complications.

• #1 Congenital Diaphragmatic Hernia Overview – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1359/

  At least 10% of individuals reherniate following initial surgical repair; the risk is considerably greater among those whose hernia repair required a prosthetic patch. […] Although CDH is classified into several types, distinction among hernias can be problematic. An anatomic depiction of the normal diaphragm is presented in Figure 1 and anatomic descriptions of diaphragmatic defects are presented in Figure 2. […] Posterolateral (Bochdalek) hernia of the diaphragm is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity. An extremely large defect, or apparent absence of the hemidiaphragm, is called agenesis of the diaphragm; this defect probably represents the severe end of the Bochdalek hernia spectrum. […] About 85% of Bochdalek hernias occur on the left side, about 10% on the right, and approximately 5% are bilateral.

• #1 Congenital Diaphragmatic Hernia | UCSF Department of Surgery

  https://surgery.ucsf.edu/condition/congenital-diaphragmatic-hernia

  How a baby with congenital diaphragmatic hernia recovers after birth is determined by many factors. Babies who experienced more severe CDH may face challenges which can include mild learning problems, breathing illnesses, hearing loss, and growth problems. […] The symptoms of a recurrence include retching, gagging and vomiting feedings, pain, or rapid breathing. Some children will have no symptoms. […] Infants with CDH often have respiratory problems. This is due to impairment in lung growth (lung hypoplasia) which occurs before birth. […] Children with CDH do not have normal lung development and are more susceptible to Respiratory Syncytial Virus (RSV) infections. […] Newborns with CDH can have pulmonary hypertension that persists beyond for a few weeks to, rarely, many months after birth.

• #1 Congenital diaphragmatic hernia – Wikipedia

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

  Survival rates for infants with this condition vary, but have generally been increasing through advances in neonatal medicine. Outcomes of CDH are largely dependent on the severity of the defect and the appropriate timing of treatment. […] In the modern era, congenital diaphragmatic hernia has a survival rate of approximately 60-70%, with some tertiary care centers reporting a survival rate of up to 92%. Individual rates vary greatly dependent upon multiple factors: size of hernia, organs involved, additional birth defects and/or genetic problems, amount of lung growth, age and size at birth, type of treatments, timing of treatments, complications (such as infections) and lack of lung function.

• #1 Congenital Diaphragmatic Hernia Overview – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1359/

  Sensorineural hearing loss (SNHL) has been found in 25% of individuals with CDH and as many as 100% of individuals treated with ECMO in some series. The fact that SNHL is late-onset and progressive, and therefore is not present on neonatal hearing screening, makes it difficult to compare studies and provide a more precise frequency. […] Mortality estimates range from 20% to 60% due to variation in patient populations and data collection techniques. Data from neonatal or referral centers, primarily including those with isolated left-sided Bochdalek hernia, report 80%-90% survival. However, population-based studies of outcome for all prenatally diagnosed individuals with CDH report mortality of at least 50%, if pregnancy terminations are included. […] Higher mortality occurs with complex CDH associated with a chromosome abnormality, a single-gene disorder, and/or the coexistence of major malformations. The presence of a cardiovascular malformation also indicates a worse prognosis. The degree of pulmonary hypoplasia. Several methods are used to estimate the severity of pulmonary hypoplasia using imaging techniques.

• #1 Congenital Diaphragmatic Hernia Overview – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1359/

  Liver herniation was associated with poorer prognosis in a large systematic review and meta-analysis of cases with prenatal detection of CDH. The severity of pulmonary hypertension in the perinatal period. Pulmonary hypertension, which may progress to a late or chronic phase, is often not responsive to medical therapy. […] Some, but not all, studies show that a right-sided hernia is associated with greater mortality than a left-sided hernia. Bilateral CDH always confers a high mortality. More recent studies suggest that fetuses with right-sided defects showed higher rates of adverse ultrasound predictors, but equivalent survival to left-sided defects.

• #1 Congenital Diaphragmatic Hernia Overview – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1359/

  Reporting of neurodevelopmental outcomes is complicated by lack of standardization in terms of outcomes assessed, age of assessment, and metrics used. The main independent predictor of intellectual disability is ECMO treatment. Mild (44%) or severe (13%) delay in at least one domain at age one year has been reported. Later, intelligence is reported in the normal range for the majority of individuals with isolated CDH, but educational support in school is often warranted and behavioral issues such as struggling with concentration and attention are common. […] Chest asymmetry is found in as many as half of individuals with CDH. Pectus deformity, most often of the excavatum type, and scoliosis (10 Cobb’s angle) are found in approximately 25% of individuals. These musculoskeletal abnormalities occur more often following repair of large diaphragmatic defects, possibly as a result of the extra tension exerted on the chest wall during surgical repair.

• #1 Congenital Diaphragmatic Hernia – Seattle Children’s

  https://www.seattlechildrens.org/conditions/congenital-diaphragmatic-hernia/

  Some children will have no long-term problems. But many children born with a CDH need care until their teen years or longer. Our CDH Program team has the specialists your child may need to manage and prevent all the known complications related to CDH. […] High blood pressure in their lungs: If your baby continues to have this problem (pulmonary hypertension) when they are ready to go home from the hospital, they may need oxygen and medicines for a while. […] Gastroesophageal reflux (GER): The backward flow of stomach contents into the esophagus is common in children born with a CDH. This can be uncomfortable and make feeding and breathing harder. […] Overall outcomes for babies born with a congenital diaphragmatic hernia are excellent. Most children who receive follow-up CDH care at Seattle Children’s meet expected milestones for growth and development by the time they start school.

• #1 Congenital Diaphragmatic Hernia Program – Seattle Children’s

  https://www.seattlechildrens.org/clinics/congenital-diaphragmatic-hernia/

  If your child has a congenital diaphragmatic hernia (CDH), Seattle Children’s team has the medical and surgical expertise to help your child not only survive, but thrive from diagnosis through treatment and long-term follow-up care. […] The average survival rate for children we treat for a CDH is 85-90%, which is significantly better than the national average. […] Our multidisciplinary team has cared for hundreds of children with CDH, from prenatal diagnosis through early adulthood. […] National studies have shown that babies with a CDH have better outcomes at centers like Seattle Children’s that treat many babies with this condition. […] High-risk babies with a CDH may require extracorporeal membrane oxygenation (ECMO). […] Seattle Children’s multidisciplinary CDH follow-up clinic helps keep your child healthy with ongoing evaluation and care. […] Seattle Childrens is leading research to improve care, outcomes and quality of life for children born with a CDH.

• #2 Congenital Diaphragmatic Hernia (CDH) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/congenital-diaphragmatic-hernia

  The diaphragm is a thin layer of muscle and tissue that separates the chest and abdominal cavity. It is the major muscle that the body uses to breathe. When your child has a congenital diaphragmatic hernia (CDH), it means that there’s a hole in that layer — or, rarely, that the diaphragm is missing altogether. CDH affects about one in every 2,500 babies. […] When your child’s lungs don’t fully develop, they will have trouble breathing after birth. […] Every child may experience symptoms differently, but possible symptoms of a Bochdalek diaphragmatic hernia may include: Difficulty breathing, Fast breathing, Fast heart rate, Cyanosis (blue color of the skin), Abnormal chest development, with one side being larger than the other, Abdomen that appears caved in. […] A baby born with a Morgagni hernia may or may not show any symptoms. Babies with a Bochdalek type of CDH are more likely to have another birth defect. Complications of a CDH may include: Chronic lung disease, Pulmonary hypertension, Gastroesophageal reflux, Failure to thrive, Developmental delays, Hearing loss.

• #2 Congenital Diaphragmatic Hernia (CDH) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-diaphragmatic-hernia-cdh

  With CDH, a hole in the diaphragm allows abdominal organs to move into the chest during fetal development. […] When a baby has CDH, their lungs will be smaller than expected (pulmonary hypoplasia), and will have less developed blood vessels. This causes high blood pressure in the lungs (pulmonary hypertension). […] CDH is typically discovered during a routine prenatal ultrasound. The sonographer may notice stomach, intestine, or liver in your baby’s chest where the lungs should be. The baby’s heart may also be pushed to one side by the extra organs in the chest. […] Many babies with CDH develop a condition called pulmonary hyperplasia, which means small lungs. When they are born, they will have trouble breathing. […] The strongest prediction of the severity of CDH is the location of the liver. When the liver is up in the chest there is more pulmonary hypoplasia (small lungs).

• #2 Congenital Diaphragmatic Hernia | UCSF Department of Surgery

  https://surgery.ucsf.edu/condition/congenital-diaphragmatic-hernia

  CDH occurs most commonly on the left side. The hole allows the contents of the abdomen (which may include the stomach, intestine, liver, spleen, or kidney) to go up into the fetal chest. The herniation of these abdominal organs into the chest occupies that space and prevents the lungs from growing to normal size. The growth of both lungs can be affected. This is called pulmonary hypoplasia. […] While in the uterus, a fetus does not need its lungs to breathe, because the placenta performs this function. However, if the lungs are too small after the baby is born, the baby will not be able to provide itself with enough oxygen to survive. […] There is a wide range of severity and outcomes for CDH. In the best cases, some infants do very well with routine neonatal and surgical treatment after birth. Even though the lung isn’t of normal size at birth, it has the capacity to grow and adapt for many years, so these children can lead normal active lives without restriction.

• #2 Congenital Diaphragmatic Hernia (CDH) | Obstetrics and Gynecology & Maternal Fetal Surgery located in Park Ridge, IL | Suwan Mehra, MD

  https://www.suwanmehramd.com/content/congenital-diaphragmatic-hernia-cdh

  With congenital diaphragmatic hernia (CDH), organs in your babys belly can get pushed up to their chest, affecting their lung development and ability to breathe at birth. […] Babies can have difficulty breathing independently after birth. […] The effects of CDH often show up on routine ultrasounds for prenatal care. These signs include: Excess amniotic fluid (liquid surrounding the baby in the protective membrane), Presence of abdominal organs in the chest, Compression and impact on developing lung tissue, Shifting of the heart in the chest. […] Treatment recommendations are primarily based on your babys lung development. To optimize your babys lung function and development after delivery, our fetal surgeons may recommend minimally invasive fetal surgery. […] After surgery, our pediatric specialists provide ongoing care to manage any persistent pulmonary concerns.

• #2 Congenital Diaphragmatic Hernia Overview – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1359/

  Sensorineural hearing loss (SNHL) has been found in 25% of individuals with CDH and as many as 100% of individuals treated with ECMO in some series. The fact that SNHL is late-onset and progressive, and therefore is not present on neonatal hearing screening, makes it difficult to compare studies and provide a more precise frequency. […] Mortality estimates range from 20% to 60% due to variation in patient populations and data collection techniques. Data from neonatal or referral centers, primarily including those with isolated left-sided Bochdalek hernia, report 80%-90% survival. However, population-based studies of outcome for all prenatally diagnosed individuals with CDH report mortality of at least 50%, if pregnancy terminations are included. […] Higher mortality occurs with complex CDH associated with a chromosome abnormality, a single-gene disorder, and/or the coexistence of major malformations. The presence of a cardiovascular malformation also indicates a worse prognosis. The degree of pulmonary hypoplasia. Several methods are used to estimate the severity of pulmonary hypoplasia using imaging techniques.

• #2 Congenital Diaphragmatic Hernia (CDH): Diagnosis and Treatment

  https://www.bannerhealth.com/services/maternity/programs-care/fetal-care-program/congenital-diaphragmatic-hernia

  The majority of infants with CDH develop symptoms in the first few hours after birth, the severity of symptoms depends on how bad the defect is and the degree of pulmonary hypoplasia. […] The most common symptoms of CDH include: Difficulty breathing, Blue skin, lips or nails (cyanosis), Rapid heartbeat, Abnormal chest development, with one side larger than the other or barrel-shaped chest, Lack of breath sounds on the affected side, Caved-in abdomen. […] Infrequently, some patients may not have symptoms in the newborn period and may show signs later in life. These symptoms include: Frequent respiratory complaints, Poor feeding and slow weight gain, Gastroesophageal reflux, Failure to thrive.

• #2 Congenital Diaphragmatic Hernia (CDH): Symptoms, Diagnosis & Treatment | Nationwide Children’s Hospital

  https://www.nationwidechildrens.org/conditions/congenital-diaphragmatic-hernia

  Babies born with CDH can have small, underdeveloped lungs (pulmonary hypoplasia), as well as reduced blood flow to the lungs caused by high blood pressure in the lungs (pulmonary hypertension). These 2 problems, pulmonary hypoplasia and pulmonary hypertension, cause babies with CDH to have a lot of trouble breathing right after birth. […] Signs of CDH after birth can include: fast breathing or hard breathing (using extra muscles to help breath), a very flat belly and barrel shaped chest, cyanosis (bluish color of skin due to low oxygen levels). […] All babies with CDH will need surgery after birth, but surgery may not be done right away. It is very important to make sure the babys breathing is stable and manage the high blood pressure in the lungs before going to surgery. Surgery may be done as early as 2 to 3 days after birth, or as late at 4 to 6 weeks after birth. It is typically done 1 to 2 weeks after birth. […] Babies with CDH are at risk for ongoing problems with the lungs, including asthma and respiratory infections. They are also at risk for ongoing problems with feeding, gastrointestinal reflux, and developmental delays. These risks are higher in babies that need ECMO.

• #2 Congenital Diaphragmatic Hernia: Symptoms and Treatment

  https://patient.info/doctor/congenital-diaphragmatic-hernia

  Congenital diaphragmatic hernia (CDH) is a congenital defect in the diaphragm that allows herniation of abdominal viscera into the thorax. The resulting abnormal lung development leads to pulmonary hypoplasia and pulmonary hypertension, which are the primary determinants of morbidity and mortality for these patients. […] Many cases are now diagnosed prenatally on routine ultrasound scans or scans following the discovery of polyhydramnios in the mother. This allows for detailed planning of the delivery and immediate aftercare of the neonate. Previously undiagnosed cases still occur and these will usually present at or very soon after birth, depending on the severity of the hernia. Signs include: Cyanosis soon after birth. Tachypnoea. Tachycardia. Asymmetry of the chest wall. Absent breath sounds on one side of the chest, usually the left with the heart shifted to the right. Bowel sounds audible over the chest wall. The abdomen possibly feels 'less full’ on palpation. […] About 10% of patients may present rather later than birth, even into adult life. These are the least severe and prognosis is much better.

• #2 Congenital diaphragmatic hernia (CDH) | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/congenital-diaphragmatic-hernia-cdh

  Congenital diaphragmatic hernia ranges in severity. It may be mild and have few or no effects on the baby, or it can be more serious and affect the ability to bring oxygen to the rest of the body. […] Babies born with CDH may have: Severe trouble breathing due to small lungs that don’t work well (pulmonary hypoplasia). A type of high blood pressure that affects the arteries in the lungs and the right side of the heart (pulmonary hypertension). Problems with development of the heart. Damage to the intestines, stomach, liver and other abdominal organs if they move through the hernia into the chest.

• #2 Late-Presenting Congenital Diaphragmatic Hernia — Pediatric EM Morsels

  https://pedemmorsels.com/congenital-diaphragmatic-hernia/

  Congenital Diaphragmatic Hernia (CDH) occurs in ~1 in 3,000 live births. Most cases are diagnosed via antenatal screening or shortly after birth. Respiratory distress develops at birth or within hours/days following birth (based on extent of herniation). CDH has a high mortality rate when presenting during new-born or neonatal period. CDH may present after the neonatal period and can be more challenging to diagnose. 5-25% of patients with CDH present beyond neonatal period. Can present across a wide range of ages: 5 weeks to 14 years! Depends on timing of visceral herniation. Late presenting CDH may present: Acutely (~60% of cases) […] Insidiously: Recurrent / intermittent symptoms, Persistent tachypnea, chronic cough, constipation, failure to thrive. Late presenting CDH is difficult to diagnose due to non-specific symptoms: Respiratory Symptoms: Dyspnea, Wheeze, Cough, Tachypnea. More often seen with RIGHT sided CDH. Gastrointestinal Symptoms: Abdominal Pain, Vomiting, Diarrhea. More often seen with LEFT sided CDH. Combination of Respiratory and Gastrointestinal Symptoms. Prompt diagnosis is important. Overall, the morbidity and mortality of late presenting congenital diaphragmatic hernia is low once appropriately managed.

• #2 Bochdalek hernia presenting gastrointestinal symptoms in late childhood: a case report

  https://www.kosinmedj.org/journal/view.php?doi=10.7180/kmj.22.134

  Most cases of congenital diaphragmatic hernia (CDH) can be diagnosed based on symptoms of severe respiratory failure during the neonatal period or fetal ultrasonography. However, some rare cases are diagnosed in late childhood or adolescence. […] In conclusion, CDH in late childhood or adolescence is rare and has various clinical manifestations. To avoid complications such as strangulation and bowel perforation, emergency surgery may be required. Thus, it is necessary to suspect CDH in children with recurrent gastrointestinal or respiratory symptoms, based on which an accurate diagnosis can be made and successful surgical treatment can be performed. […] Symptoms of a diaphragmatic hernia can include emesis, nausea, abdominal pain, chest pain, dyspnea, wheezing, cough, and absent breath sound.

• #2 A case of late-presenting congenital diaphragmatic hernia diagnosed at 5 years with acute abdomen | Surgical Case Reports | Full Text

  https://surgicalcasereports.springeropen.com/articles/10.1186/s40792-024-01980-0

  Some congenital diaphragmatic hernias are diagnosed beyond 1 month. A late-presenting congenital diaphragmatic hernia shows a variety of clinical manifestations, and the preoperative clinical course is variable. We herein report a pediatric case of late-presenting congenital diaphragmatic hernia diagnosed as acute abdomen. […] Late-presenting congenital diaphragmatic hernias present with a wide variety of symptoms; therefore, it is important to be reminded of these conditions and check chest radiographs in children presenting with acute or chronic respiratory or gastrointestinal symptoms of unknown etiology. […] LPCDH presents with a wide variety of clinical manifestations. In a previous review, 60% of patients on the left side had acute symptoms, 34% had chronic symptoms, and 6% were asymptomatic. In comparison, 32% had acute symptoms, 57% had chronic symptoms, and 11% were asymptomatic among right-sided LPCDH cases. Respiratory symptoms, such as tachypnea, cough, and recurrent airway infections, tend to be more common on the right side than on the left. In contrast, gastrointestinal symptoms, such as abdominal pain and vomiting, were as common as respiratory symptoms on the left side. […] In the present case, abdominal pain was the trigger for the diagnosis, but it is possible that asthma-like respiratory symptoms might be associated with CDH.

• #2 Congenital Diaphragmatic Hernia Overview – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1359/

  Infants with CDH typically require mechanical ventilation and sometimes extracorporeal membrane oxygenation (ECMO) in the newborn period. Major respiratory complications include tracheobronchomalacia, pneumothorax, and secondary lung infection (especially viral pneumonia) that could precipitate terminal respiratory failure even months after surgery. Many infants require ongoing oxygen supplementation and diuretics following surgical correction of CDH. Given the remarkable growth and recuperative capacity of the lung, these treatments can usually be discontinued within the first two years of life. […] By early childhood, few children have respiratory symptoms at rest; however, formal testing in older children shows small airway obstruction and diminished blood flow on ventilation-perfusion (V-Q) scan, especially to the lung ipsilateral to the hernia. Reduced exercise tolerance can be a lifelong problem. Intermittent wheezing requiring bronchodilator use is common in people with CDH, and they are at risk for respiratory decompensation with intercurrent illness.

• #2 Congenital Diaphragmatic Hernia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK556076/

  Infants with congenital diaphragmatic hernia have a multitude of long term complications that persist beyond the period of infancy. Respiratory complications include chronic lung disease, home oxygen requirement, aspiration pneumonia, pulmonary hypertension, and obstructive airway disease. Gastrointestinal complications such as oral feeding aversion, gastroesophageal reflux, and growth failure are common. Neurocognitive delays, behavioral disorders, sensorineural hearing loss are also noted. Hernia recurrence is another risk that can present months to years later, especially in infants with large defects.

• #2 CDH Recovery – Children’s Hospital of Orange County

  https://choc.org/programs-services/pediatric-general-surgery/diaphragmatic-hernia/cdh-recovery/

  Some children will require more than one surgery to repair their congenital diaphragmatic hernia. A second surgery is typically needed in children born with severe CDH, where a synthetic patch was used to repair the hole in the diaphragm. The child’s growth can cause the patch to pull away from the chest wall resulting in a recurrence. CDH recurrence symptoms can include: Retching, Gagging, Vomiting, Pain, Rapid breathing. […] The long-term management of your child’s CDH is largely related to the severity of their condition and the hernia’s placement, as well as the development of any other complications (listed above). However, most children with CDH treated at CHOC will meet expected growth and developmental milestones.

• #2 Diaphragmatic Hernia: Causes, Symptoms & Diagnosis

  https://www.healthline.com/health/diaphragmatic-hernia

  A congenital diaphragmatic hernia (CDH) is due to the abnormal development of the diaphragm while the fetus is forming. A defect in the diaphragm of the fetus allows one or more of their abdominal organs to move into the chest and occupy the space where their lungs should be. As a result, the lungs cant develop properly. In the majority of cases, this affects only one lung. […] The severity of symptoms with a diaphragmatic hernia can vary depending on its size, cause, and the organs involved. […] This is usually very severe. In a CDH, it results from the abnormal development of the lungs. […] This symptom is common in the case of a CDH because one of the babys lungs may not have formed properly. The breath sounds on the affected side will be absent or very difficult to hear. […] The outlook for a CDH depends on how damaged the lungs are, as well as the severity of involvement of other organs. According to current research, the overall survival rate for congenital diaphragmatic hernias is 70-90 percent.

• #3 Congenital Diaphragmatic Hernia Overview – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1359/

  Liver herniation was associated with poorer prognosis in a large systematic review and meta-analysis of cases with prenatal detection of CDH. The severity of pulmonary hypertension in the perinatal period. Pulmonary hypertension, which may progress to a late or chronic phase, is often not responsive to medical therapy. […] Some, but not all, studies show that a right-sided hernia is associated with greater mortality than a left-sided hernia. Bilateral CDH always confers a high mortality. More recent studies suggest that fetuses with right-sided defects showed higher rates of adverse ultrasound predictors, but equivalent survival to left-sided defects.

• #3 Diaphragmatic hernia Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/diaphragmatic-hernia

  Severe breathing problems usually develop shortly after the baby is born. This is due in part to poor movement of the diaphragm muscle and crowding of the lung tissue. Problems with breathing and oxygen levels are often due to underdeveloped lung tissue and blood vessels as well. […] Other symptoms include: Bluish colored skin due to lack of oxygen, Rapid breathing (tachypnea), Fast heart rate (tachycardia).

• #3 Congenital Diaphragmatic Hernia Overview – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1359/

  Abnormal pulmonary vascular development and function is a significant problem in infants with CDH. The mechanism of pulmonary hypertension in CDH is not completely understood. The size of the pulmonary vascular bed is decreased in the hypoplastic lungs and the vasculature displays medial and adventitial thickening. Failure of relaxation of the pulmonary vasculature at birth is a critical component leading to pulmonary hypertension in CDH and it is the consequence of abnormal expression of both vasoconstrictors and vasodilators in distinct but converging pathways. […] „Failure to thrive” with growth parameters lower than the third centile of normal is common among infants with more significant pulmonary hypoplasia and/or a more prolonged hospitalization following surgical repair of CDH. Growth failure is caused, in large part, by oral aversion and feeding difficulties (often requiring gastrostomy tube insertion for the first few years of life) and gastroesophageal reflux (frequently requiring pharmacotherapy and/or surgical fundoplication). Some infants and children require long-term high-calorie nutritional supplements.

• #3 Late-Presenting Congenital Diaphragmatic Hernia — Pediatric EM Morsels

  https://pedemmorsels.com/congenital-diaphragmatic-hernia/

  Congenital Diaphragmatic Hernia (CDH) occurs in ~1 in 3,000 live births. Most cases are diagnosed via antenatal screening or shortly after birth. Respiratory distress develops at birth or within hours/days following birth (based on extent of herniation). CDH has a high mortality rate when presenting during new-born or neonatal period. CDH may present after the neonatal period and can be more challenging to diagnose. 5-25% of patients with CDH present beyond neonatal period. Can present across a wide range of ages: 5 weeks to 14 years! Depends on timing of visceral herniation. Late presenting CDH may present: Acutely (~60% of cases) […] Insidiously: Recurrent / intermittent symptoms, Persistent tachypnea, chronic cough, constipation, failure to thrive. Late presenting CDH is difficult to diagnose due to non-specific symptoms: Respiratory Symptoms: Dyspnea, Wheeze, Cough, Tachypnea. More often seen with RIGHT sided CDH. Gastrointestinal Symptoms: Abdominal Pain, Vomiting, Diarrhea. More often seen with LEFT sided CDH. Combination of Respiratory and Gastrointestinal Symptoms. Prompt diagnosis is important. Overall, the morbidity and mortality of late presenting congenital diaphragmatic hernia is low once appropriately managed.

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