Congenital diaphragmatic hernias: from genes to mechanisms to therapies

Kardon, Gabrielle; Ackerman, Kate G.; McCulley, David J.; Shen, Yufeng; Wynn, Julia; Shang, Linshan; Bogenschutz, Eric L.; Sun, Xin; Chung, Wendy K.

doi:10.1242/dmm.028365

Cited by 157 publications

(161 citation statements)

References 233 publications

(262 reference statements)

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“…However, a specific cytogenetic anomaly has not yet been recognized in all CDH‐associated syndromes. For a more detailed overview on genetic anomalies associated to CDH, we refer to the excellent reviews by Slavotinek and Kardon and Ackerman …”

Section: Additional Testingmentioning

confidence: 99%

Proposal for standardized prenatal ultrasound assessment of the fetus with congenital diaphragmatic hernia by the European reference network on rare inherited and congenital anomalies (ERNICA)

Russo¹,

Cordier

Catte³

et al. 2018

Prenatal Diagnosis

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Congenital diaphragmatic hernia is a rare disease associated with high mortality and morbidity. Antenatal ultrasound screening identifies more than 70% of cases, providing the opportunity for in utero referral to a tertiary care center for expert assessment and perinatal management. Additional genetic and morphologic assessment may be used to rule out associated anomalies. In isolated cases, the outcome may be predicted prenatally by medical imaging. The combination of lung size and liver herniation is a widely accepted method to stratify fetuses into groups with an increasing degree of pulmonary hypoplasia and corresponding mortality rates. Ultrasound measurement of the observed to expected lung-to-head ratio (o/e LHR) is most widely used. The o/e LHR is an independent predictor of survival and short-term morbidity. Finally, evaluation of stomach position has recently been introduced as an indirect method to estimate severity of the disease in left-sided defects, as it has been shown to correlate with the proportion of intrathoracic liver. Herein, we propose a protocol for the standardized ultrasound assessment of fetuses with isolated CDH and individualized prediction of neonatal outcome.

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Section: Additional Testingmentioning

confidence: 99%

Proposal for standardized prenatal ultrasound assessment of the fetus with congenital diaphragmatic hernia by the European reference network on rare inherited and congenital anomalies (ERNICA)

Russo¹,

Cordier

Catte³

et al. 2018

Prenatal Diagnosis

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“…In CDH, the diaphragm fails to form properly and weaknesses in the diaphragm allow abdominal contents to herniate into the thoracic cavity and impede lung development. The resulting lung hypoplasia leads to 50% mortality and high morbidity and thus demonstrates the importance of proper diaphragm development (Kardon et al, 2017; Merrell and Kardon, 2013). The diaphragm is not only critical for humans, but also for all mammals.…”

Section: Diaphragmmentioning

confidence: 99%

Connecting muscle development, birth defects, and evolution: An essential role for muscle connective tissue

Sefton

Kardon

2019

Current Topics in Developmental Biology

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Skeletal muscle powers all movement of the vertebrate body and is distributed in multiple regions that have evolved distinct functions. Axial muscles are ancestral muscles essential for support and locomotion of the whole body. The evolution of the head was accompanied by development of cranial muscles essential for eye movement, feeding, vocalization, and facial expression. With the evolution of paired fins and limbs and their associated muscles, vertebrates gained increased locomotor agility, populated the land, and acquired fine motor skills. Finally, unique muscles with specialized functions have evolved in some groups, and the diaphragm which solely evolved in mammals to increase respiratory capacity is one such example. The function of all these muscles requires their integration with the other components of the musculoskeletal system: muscle connective tissue (MCT), tendons, bones as well as nerves and vasculature. MCT is muscle’s closest anatomical and functional partner. Not only is MCT critical in the adult for muscle structure and function, but recently MCT in the embryo has been found to be crucial for muscle development. In this review, we examine the important role of the MCT in axial, head, limb, and diaphragm muscles for regulating normal muscle development, discuss how defects in MCT-muscle interactions during development underlie the etiology of a range of birth defects, and explore how changes in MCT development or communication with muscle may have led to the modification and acquisition of new muscles during vertebrate evolution.

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“…It is thought to be part of a multisystem genetic syndrome, as CDHassociated genetic mutations affect not only development of the diaphragm but also directly affect the development of other organs, such as the heart and lungs (4). Anatomy of the human diaphragm at birth and the possible types of diaphragmatic defects were elegantly schematically shown by Kardon et al (2017) (5).…”

Section: Discussionmentioning

confidence: 99%

“…In 1848, Vincent Alexander Bochdalek first described a congenital hernia resulting from the developmental failure of the diaphragmatic posterolateral foramina to fuse properly (5)(6)(7)(8). Bochdalek hernia is one of the most common abnormalities presented in infants with a reported incidence of about 1 in 3,000 live births, and represents about 80% of CDH (9).…”

Section: Bochdalek Herniamentioning

confidence: 99%

“…Around the 8 th week of gestation, the pleuroperitoneal membrane forms over the canals and closes the connection between the chest and abdomen ( Figure 8). As the right pleuroperitoneal canal closes earlier than the left, a Bochdalek hernia predominantly occurs on the left chest (80% of cases) (5). A hernia sac has been reported to be present in 10 to 38% of cases (10).…”

Section: Bochdalek Herniamentioning

confidence: 99%

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Thoracoscopic approach to congenital diaphragmatic hernias in adults: Southampton approach and review of the literature

Amer

2017

J. Vis. Surg.

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Congenital diaphragmatic hernias (CDH) are likely to present in early postnatal or infancy and are associated with significant morbidity and mortality due to associated pulmonary hypoplasia, pulmonary hypertension and heart failure. Symptomatic adult congenital Bochdalek hernia, on the other hand, is extremely rare with a prevalence of 0.17-6% of all diaphragmatic hernias. They present with recurrent abdominal pain and shortness of breath. Acute presentations could be life threatening especially if there is incarcerated or threatened bowel in the chest. Repair of symptomatic Bochdalek hernia is recommended in the adult population. We present two cases of right and left symptomatic Bochdalek hernias in adults, encountered over 15 years of practice in a tertiary referral centre in the UK. We discuss their presentation and surgical management and review the literature of similar cases treated by video-assisted thoracoscopic surgery (VATS). Thoracic surgeons are increasingly becoming involved in these cases, which used to be the domain of upper gastrointestinal surgeons. A synthetic patch may be required to close the defect, therefore; the thoracic surgeon must be familiar with such techniques. The recent expansion in video format publishing in the internet and social media has revolutionized the way knowledge and how-to-do-it expertise is distributed around the world. It has the advantage of reaching far more viewer than subscription paperprinted format journals and has a rising significance in encouraging thoracic surgeons to do things they were not used to do. Finally; Symptomatic Bochdalek hernia, and possibly Morgagni hernia in the adult population could be safely repaired by VATS with good and lasting results. Her past history included laparoscopy for endometriosis. Chronic obstructive pulmonary disease (COPD) was suspected, however; bronchodilators were of no avail. Her chest X-ray suggested an abnormal shadow related to her right diaphragm, and her chest and upper abdomen computed tomography (CT) scan suggested a defect in the right dome of diaphragm, with possible herniation of the liver in the chest. There were no interstitial lung changes to account for the shortness of breath (Figure 2A,B). A 'sniff' test under fluoroscopic screening revealed significant paradoxical movement of the right diaphragm. Nerve conduction studies of the right phrenic nerve revealed normal conduction velocities and absence of diaphragm paralysis.Under general anesthesia and single lung ventilation she underwent VATS exploration of her right chest. Singleuse optical trocars were used for port-access. These airseal trocars have a transparent plastic sleeve, into which the thoracoscopy could be fitted before insertion, enabling the surgeon to monitor the passage of the instrument through the layers of the chest wall, avoiding injury to adherent lung. A total of 4 ports were used, two 12 mm and two 5 mm. The operating ports were carefully chosen for a posterior approach (i.e., surgeon standing posterior to the patient). Th...

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Congenital diaphragmatic hernias: from genes to mechanisms to therapies

Cited by 157 publications

References 233 publications

Proposal for standardized prenatal ultrasound assessment of the fetus with congenital diaphragmatic hernia by the European reference network on rare inherited and congenital anomalies (ERNICA)

Proposal for standardized prenatal ultrasound assessment of the fetus with congenital diaphragmatic hernia by the European reference network on rare inherited and congenital anomalies (ERNICA)

Connecting muscle development, birth defects, and evolution: An essential role for muscle connective tissue

Thoracoscopic approach to congenital diaphragmatic hernias in adults: Southampton approach and review of the literature

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