Genetic causes of congenital diaphragmatic hernia

Abstract

Congenital diaphragmatic hernia (CDH) is a moderately prevalent birth defect that, despite advances in neonatal care, is still a significant cause of infant death, and surviving patients have significant morbidity. The goal of ongoing research to elucidate the genetic causes of CDH is to develop better treatment and ultimately prevention. CDH is a complex developmental defect that is etiologically heterogeneous. This review summarizes the recurrent genetic causes of CDH including aneuploidies, chromosome copy number variants, and single gene mutations. It also discusses strategies for genetic evaluation and genetic counseling in an era of rapidly evolving technologies in clinical genetic diagnostics.

Unrecognised diaphragmatic hernia in a refugee child: an incidental diagnosis

“…Indeed, in these geographical areas, most diaphragmatic hernias are congenital and, thus, are diagnosed in the first months of life. As mentioned in the introduction, CDH is a consequence of diaphragm malformations and, thus, are usually evidenced by prenatal ultrasonography or are recognised at birth or in the first days of life because of the occurrence of acute respiratory distress (indeed, this anomaly of the diaphragm is often associated to lung hypoplasia or compression) 2. However, some cases of CDH have a late presentation in infancy or result to be even asymptomatic; if so, the diagnosis is made through a chest X-ray performed for other reasons 6 7…”

Orthopnea and fever in an elderly woman

“…Cardiopulmonary, gastrointestinal, musculoskeletal and genitourinary systems can be affected configuring specific clinical syndromes. [6][7][8][9][10] Environmental factors such as vitamin A deficiency or herbicide exposure (e.g., nitrofen) have also been associated with CDH. [11][12][13][14] Alcohol use and maternal pregestational diabetes are also significantly associated with CDH.…”

Current Concepts in the Management of Congenital Diaphragmatic Hernia in Infants

“…CDH is a complex developmental defect that is etiologically heterogeneous (multifactorial), and in a majority of cases (~80 %), the cause is unknown [2]. Most cases are isolated; however, numerous genetic syndromes are associated with CDH [2].…”

“…Most cases are isolated; however, numerous genetic syndromes are associated with CDH [2]. The most co-occurring defect is congenital heart defect which is present in~20 % of patients.…”