Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics

Cannata, Giulia; Grassi, Federica; Perrone, Serafina; Esposito, Susanna

doi:10.3390/ijms22126353

Cited by 19 publications

(12 citation statements)

References 229 publications

(264 reference statements)

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“…Important areas for ongoing investigation include underlying cellular, metabolic and genetic determinants of left heart hypoplasia and postnatal RV and LV function 55,56 . The impact of vasoactive medications on the CDH myocardium and vasculature is another area requiring further research.…”

Section: Discussionmentioning

confidence: 99%

“Heart of the Matter”: Cardiac Dysfunction in Congenital Diaphragmatic Hernia

Gowda

Patel

2023

Am J Perinatol

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Despite advances in caring for neonates with congenital diaphragmatic hernia (CDH), mortality and morbidity continues to be high. Additionally, the pathophysiology of cardiac dysfunction in this condition is poorly understood. Postnatal cardiac dysfunction in neonates with CDH may be multifactorial with origins in fetal life. Mechanical obstruction, competition from herniated abdominal organs into thoracic cavity combined with redirection of ductus venosus flow away from patent foramen ovale leading to smaller left-sided structures may be a contributing factor. This shunting decreases left atrial and left ventricular blood volume which may result in altered micro- and macro- vascular aberrations affecting cardiac development in the prenatal period. Direct mass effect from herniated intra-abdominal contents restricting cardiac growth, and/or reduced left ventricular preload may contribute independently to left ventricular dysfunction in the absence of right ventricular dysfunction and or pulmonary hypertension. With variable clinical phenotypes of cardiac dysfunction, pulmonary hypertension, and respiratory failure in patients with CDH, there is increased need for individualized diagnosis and tailored therapy. Routine use of therapy such as inhaled nitric oxide (iNO) and sildenafil which induces significant pulmonary vasodilation may be detrimental in LV dysfunction whereas in a patient with pure RV dysfunction, they may be beneficial. Targeted functional echocardiography serves as a real time tool for defining the pathophysiology and aids optimization of vasoactive therapy in affected neonates.

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Section: Discussionmentioning

confidence: 99%

“Heart of the Matter”: Cardiac Dysfunction in Congenital Diaphragmatic Hernia

Gowda

Patel

2023

Am J Perinatol

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“…The pathogenesis of CDH is still not fully understood. Chromosomal anomalies such as aneuploidies, structural rearrangements, copy number variants, single-gene mutations, and monogenic syndromes contribute to the heterogenic etiology of CDH [ 176 , 177 ]. Nonetheless, only 30% of the CDH cases have been associated with genetic factors and, for this reason, several animal models have been used to study this condition.…”

Section: Congenital Lung Malformationsmentioning

confidence: 99%

Developmental Pathways Underlying Lung Development and Congenital Lung Disorders

Caldeira

Fernandes-Silva

Machado-Costa

et al. 2021

Cells

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Lung organogenesis is a highly coordinated process governed by a network of conserved signaling pathways that ultimately control patterning, growth, and differentiation. This rigorously regulated developmental process culminates with the formation of a fully functional organ. Conversely, failure to correctly regulate this intricate series of events results in severe abnormalities that may compromise postnatal survival or affect/disrupt lung function through early life and adulthood. Conditions like congenital pulmonary airway malformation, bronchopulmonary sequestration, bronchogenic cysts, and congenital diaphragmatic hernia display unique forms of lung abnormalities. The etiology of these disorders is not yet completely understood; however, specific developmental pathways have already been reported as deregulated. In this sense, this review focuses on the molecular mechanisms that contribute to normal/abnormal lung growth and development and their impact on postnatal survival.

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“…Indeed, the grade of the defect correlates with the severity of symptoms [ 1 ]. Unfortunately, the most common presentation of CDH is an infant with a higher grade diaphragmatic defect (grades B, C) with acute respiratory distress within the first hours to days of life [ 1 , 2 ]. In this presentation, CDH is associated with high infant mortality, affecting approximately 0.03% of newborns [ 2 ].…”

Section: Introduction/backgroundmentioning

confidence: 99%

“…Unfortunately, the most common presentation of CDH is an infant with a higher grade diaphragmatic defect (grades B, C) with acute respiratory distress within the first hours to days of life [ 1 , 2 ]. In this presentation, CDH is associated with high infant mortality, affecting approximately 0.03% of newborns [ 2 ]. However, there is a subset of patients with a milder form who are diagnosed more than a month after birth, called late-presenting CDH [ 3 – 5 ].…”

Section: Introduction/backgroundmentioning

confidence: 99%

Beyond the Neonate: A Delayed Presentation of Congenital Diaphragmatic Hernia in a 17‐Year‐Old

Vinton,

Posa,

Kelly

et al. 2024

Case Reports in Pediatrics

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Congenital diaphragmatic hernia (CDH) is a rare anomaly resulting from incomplete closure of pleuroperitoneal canals during fetal development, often presenting with acute respiratory distress in neonates. This case report highlights a 17-year-old female with recurrent episodes of acute left upper quadrant (LUQ) pain and no history of trauma or dietary change. A computerized tomography (CT) scan taken during her second presentation to the emergency department led to a diagnosis of left-sided CDH. She later had a successful laparoscopic diaphragmatic repair surgery and has remained symptom-free for over a year. Late-presenting CDH indicates a rare subset of cases diagnosed after one month of age. Late presentations comprise 5–25% of cases and become increasingly rare with age. Unlike neonatal CDH, which is associated with several comorbidities, late presentations often manifest as a standalone anomaly. When the correct diagnosis is made, uncomplicated surgical repair yields excellent long-term outcomes. However, delayed and incorrect diagnoses can result in serious morbidity. Late-presenting CDH has diverse clinical presentations and can elude diagnostic imaging. As a result, there is a need for heightened clinical suspicion. This report aims to enhance awareness of late-presenting CDH and explore challenges to prompt, accurate diagnosis. Ultimately, this study implores clinicians to consider this condition in patients with unexplained respiratory or gastrointestinal symptoms.

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Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics

Cited by 19 publications

References 229 publications

“Heart of the Matter”: Cardiac Dysfunction in Congenital Diaphragmatic Hernia

“Heart of the Matter”: Cardiac Dysfunction in Congenital Diaphragmatic Hernia

Developmental Pathways Underlying Lung Development and Congenital Lung Disorders

Beyond the Neonate: A Delayed Presentation of Congenital Diaphragmatic Hernia in a 17‐Year‐Old

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