The role of genes and environment in the etiology of congenital diaphragmatic hernias

Burns, Nathan G.; Kardon, Gabrielle

doi:10.1016/bs.ctdb.2022.10.004

Cited by 5 publications

(2 citation statements)

References 101 publications

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“…Genetic and environmental factors are the main predispositions to developing the condition, with mutations in more than 150 genes reported in existing literature [ 3 ]. Since these chromosomal aberrations are the leading causes of diaphragmatic hernias, karyotyping and prenatal imaging such as ultrasound or fetal magnetic resonance imaging (MRI) may be employed for early diagnosis and to improve patient outcomes and decrease mortality rates [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

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Strangulated Bochdalek Hernia in Adults: Timely Recognition and Surgical Intervention Can Prevent a Lethal Outcome

Das,

AbdelAziz,

Krishnan

et al. 2023

Cureus

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Bochdalek hernias are rare diaphragmatic hernias most commonly seen in pediatric populations. Adults with this condition may be asymptomatic or present with gastrointestinal symptoms such as abdominal pain, pressure, choking, or dysphagia. Computed tomography imaging is a gold standard in diagnosing the condition. The definitive treatment is surgery, recommended and encouraged for asymptomatic patients as well to reduce the risk of future complications. Whilst the approach to surgical management differs on a case-by-case basis, the main goal is to reduce the herniating organ and repair the defect. It is important to note that in severe cases, intestinal obstruction and strangulation may occur. We present a unique case of this very phenomenon in a patient diagnosed and treated as a case of strangulated Bochdalek hernia. We aim to highlight the importance of diagnosing this condition as clinical symptoms may be non-specific, and rapid surgical intervention is necessary.

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Section: Discussionmentioning

confidence: 99%

“…Whilst genetic factors are more influential, it has been evidenced that environmental factors such as deficiency of maternal vitamin A as well as pre-gestational maternal diabetes or hypertension have strong associations with the formation of diaphragmatic hernias [ 3 , 5 ].…”

Section: Discussionmentioning

confidence: 99%

Strangulated Bochdalek Hernia in Adults: Timely Recognition and Surgical Intervention Can Prevent a Lethal Outcome

Das,

AbdelAziz,

Krishnan

et al. 2023

Cureus

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Cellular origins and translational approaches to congenital diaphragmatic hernia

Jank,

Doktor,

Zani

et al. 2024

Seminars in Pediatric Surgery

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The etiology of congenital diaphragmatic hernia: the retinoid hypothesis 20 years later

Rivas,

Clugston

2023

Pediatr Res

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Congenital diaphragmatic hernia (CDH) is a severe birth defect and a major cause of neonatal respiratory distress. Impacting ~2–3 in 10,000 births, CDH is associated with a high mortality rate, and long-term morbidity in survivors. Despite the significant impact of CDH, its etiology remains incompletely understood. In 2003, Greer et al. proposed the Retinoid Hypothesis, stating that the underlying cause of abnormal diaphragm development in CDH was related to altered retinoid signaling. In this review, we provide a comprehensive update to the Retinoid Hypothesis, discussing work published in support of this hypothesis from the past 20 years. This includes reviewing teratogenic and genetic models of CDH, lessons from the human genetics of CDH and epidemiological studies, as well as current gaps in the literature and important areas for future research. The Retinoid Hypothesis is one of the leading hypotheses to explain the etiology of CDH, as we continue to better understand the role of retinoid signaling in diaphragm development, we hope that this information can be used to improve CDH outcomes. Impact This review provides a comprehensive update on the Retinoid Hypothesis, which links abnormal retinoic acid signaling to the etiology of congenital diaphragmatic hernia. The Retinoid Hypothesis was formulated in 2003. Twenty years later, we extensively review the literature in support of this hypothesis from both animal models and humans.

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The role of genes and environment in the etiology of congenital diaphragmatic hernias

Cited by 5 publications

References 101 publications

Strangulated Bochdalek Hernia in Adults: Timely Recognition and Surgical Intervention Can Prevent a Lethal Outcome

Strangulated Bochdalek Hernia in Adults: Timely Recognition and Surgical Intervention Can Prevent a Lethal Outcome

Cellular origins and translational approaches to congenital diaphragmatic hernia

The etiology of congenital diaphragmatic hernia: the retinoid hypothesis 20 years later

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