Patent Ductus Arteriosus 1 (PDA)

External Ids:

OMIM 57 607411 Disease Ontology 12 DOID:13832 ICD10 33 Q25.0 ICD9CM 35 747.0 MeSH 44 D004374 NCIt 50 C84492

SNOMED-CT 68 83330001 MedGen 42 C4282128 KEGG 37 H01630 SNOMED-CT via HPO 69 258211005 UMLS 73 C0013274 C3495549

OMIM : ⁵⁷ Persistent patency of the ductus arteriosus, or patent ductus arteriosus (PDA), is the second most common congenital heart disease, affecting approximately 1 in 1,600 to 5,000 live births in the U.S. (Mitchell et al., 1971). In fetal life, the ductus arteriosus, a muscular artery, shunts blood from the pulmonary artery to the aorta, bypassing the lungs. Its abrupt closure at birth establishes the mature circulatory pattern and represents a dramatic example of vascular remodeling. Failure of this normal process results in persistent PDA, which left untreated can result in pulmonary hypertension and heart failure. Closure of the ductus is a complex process. Aspects of this process are regulated by oxygen tension and a decrease in levels of hormones such as prostaglandin E2. PDA occurring in preterm infants often closes spontaneously or in response to inhibitors of prostaglandin biosynthesis (Ramsay et al., 1987). Term PDA typically has not been regarded as a genetic disorder, because it most often occurs sporadically. Nonetheless, term PDA recurs among 5% of sibs of PDA cases (Polani and Campbell, 1960; Lamy et al., 1957), suggesting a genetic component to disease pathogenesis that has typically been presumed to be multifactorial. That single genes can influence this trait has been demonstrated by a mouse model of PDA resulting from disruption of the prostaglandin E2 receptor (Nguyen et al., 1997) and by rare syndromic forms of PDA such as Char syndrome (169100), an autosomal dominant disorder caused by mutations in the transcription factor TFAP2B (601601) (Mani et al., 2002). (607411)

MalaCards based summary : Patent Ductus Arteriosus 1, also known as patent ductus arteriosus, is related to char syndrome and total anomalous pulmonary venous return 1. An important gene associated with Patent Ductus Arteriosus 1 is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11), and among its related pathways/superpathways are Vascular smooth muscle contraction and Heart Development. Affiliated tissues include heart, lung and brain, and related phenotypes are patent ductus arteriosus and cardiovascular system

PubMed Health : ⁶³ About patent ductus arteriosus: Patent ductus arteriosus (PDA) is a heart problem that affects some babies soon after birth. In PDA, abnormal blood flow occurs between two of the major arteries connected to the heart. These arteries are the aorta and the pulmonary (PULL-mun-ary) artery.Before birth, these arteries are connected by a blood vessel called the ductus arteriosus. This blood vessel is a vital part of fetal blood circulation.Within minutes or up to a few days after birth, the ductus arteriosus closes. This change is normal in newborns.In some babies, however, the ductus arteriosus remains open (patent). The opening allows oxygen-rich blood from the aorta to mix with oxygen-poor blood from the pulmonary artery. This can strain the heart and increase blood pressure in the lung arteries.

Wikipedia : ⁷⁶ Patent ductus arteriosus (PDA) is a condition wherein the ductus arteriosus fails to close after... more...

Clinical features from OMIM:

607411

Patent ductus arteriosus (PDA) is treated with medicines, catheter-based procedures, and surgery. The goal of treatment is to close the PDA. Closure will help prevent complications and reverse the effects of increased blood volume.Small PDAs often close without treatment. For full-term infants, treatment is needed if the PDA is large or causing health problems. For premature infants, treatment is needed if the PDA is causing breathing problems or heart problems.Talk with your child's doctor about treatment options and how your family prefers to handle treatment decisions.

Search NIH Clinical Center for Patent Ductus Arteriosus 1

Search GEO for disease gene expression data for Patent Ductus Arteriosus 1.