Abstract
Congenital diaphragmatic hernia (CDH) is a rare congenital anomaly characterised by a diaphragmatic defect, persistent pulmonary hypertension (PH) and lung hypoplasia. The relative contribution of these three elements can vary considerably in individual patients. Most affected children suffer primarily from the associated PH, for which the therapeutic modalities are limited and frequently not evidence based. The vascular defects associated with PH, which is characterised by increased muscularisation of arterioles and capillaries, start to develop early in gestation. Pulmonary vascular development is integrated with the development of the airway epithelium. Although our knowledge is still incomplete, the processes involved in the growth and expansion of the vasculature are beginning to be unravelled. It is clear that early disturbances of this process lead to major pulmonary growth abnormalities, resulting in serious clinical challenges and in many cases death in the newborn. Here we provide an overview of the current molecular pathways involved in pulmonary vascular development. Moreover, we describe the abnormalities associated with CDH and the potential therapeutic approaches for this severe abnormality.
Abstract
Congenital pulmonary vascular diseases originate early during development, leading to clinical challenges http://ow.ly/EFno30hBhbv
Footnotes
Support statement: This work was supported in part by the Sophia Foundation for Medical Research grant number 678 (awarded to H.M. Kool). Funding information for this article has been deposited with the Crossref Funder Registry.
Conflict of interest: None declared.
Provenance: Commissioned article, peer reviewed.
- Received September 7, 2017.
- Accepted November 9, 2017.
- Copyright ©ERS 2018.
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