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Patent ductus arteriosus(PDA1)

MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
Synonyms: Patency of the ductus arteriosus; Patent ductus arteriosus familial (type); PDA1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Multifactorial inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Sources: HPO, Orphanet
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Patent ductus arteriosus (83330001); Patent ductus Botalli (83330001); PDA - Patent ductus arteriosus (83330001); Patent arterial duct (83330001)
 
Cytogenetic location: 12q24
OMIM®: 607411
HPO: HP:0001643
Orphanet: ORPHA706

Definition

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). Genetic Heterogeneity of Patent Ductus Arteriosus Autosomal dominant forms of patent ductus arteriosus include PDA2 (617035), caused by mutation in the TFAP2B gene (601601) on chromosome 6p12, and PDA3 (617039), caused by mutation in the PRDM6 gene (616982) on chromosome 5q23. Hajj and Dagle (2012) reviewed the genetics of patent ductus arteriosus in both term and preterm infants, and discussed possible environmental risk factors as well as animal models of PDA. [from OMIM]

Clinical features

Conduction disorder of the heart
MedGen UID:
78114
Concept ID:
C0264886
Disease or Syndrome
Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities
Congestive heart failure
MedGen UID:
504881
Concept ID:
CN001488
Finding
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Clubbing of toes
MedGen UID:
854352
Concept ID:
C3887489
Anatomical Abnormality
Terminal broadening of the toes (distal phalanges of the toes).
Tetralogy of Fallot
MedGen UID:
21498
Concept ID:
C0039685
Congenital Abnormality
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.Although babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.Some people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.
Conduction disorder of the heart
MedGen UID:
78114
Concept ID:
C0264886
Disease or Syndrome
Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities
Congestive heart failure
MedGen UID:
504881
Concept ID:
CN001488
Finding
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Patent ductus arteriosus
MedGen UID:
504886
Concept ID:
CN001496
Finding
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Pathologic Function
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Pulmonary hypertension
MedGen UID:
9376
Concept ID:
C0020542
Finding
Pulmonary hypertension (PH) is high blood pressure in the arteries to your lungs. It is a serious condition. If you have it, the blood vessels that carry blood from your heart to your lungs become hard and narrow. Your heart has to work harder to pump the blood through. Over time, your heart weakens and cannot do its job and you can develop heart failure. . Symptoms of PH include. -Shortness of breath during routine activity, such as climbing two flights of stairs. -Tiredness. -Chest pain. -A racing heartbeat. -Pain on the upper right side of the abdomen. -Decreased appetite. As PH worsens, you may find it hard to do any physical activities. There are two main kinds of PH. One runs in families or appears for no known reason. The other kind is related to another condition, usually heart or lung disease. . There is no cure for PH. Treatments can control symptoms. They involve treating the heart or lung disease, medicines, oxygen, and sometimes lung transplantation. NIH: National Heart, Lung, and Blood Institute.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Respiratory function loss
MedGen UID:
892404
Concept ID:
C4020855
Pathologic Function
Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide.
Clubbing of toes
MedGen UID:
854352
Concept ID:
C3887489
Anatomical Abnormality
Terminal broadening of the toes (distal phalanges of the toes).
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
An abnormally increased height of the forehead.
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Premature birth
MedGen UID:
57721
Concept ID:
C0151526
Finding
The birth of a baby of less than 37 weeks of gestational age.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPatent ductus arteriosus
Follow this link to review classifications for Patent ductus arteriosus in Orphanet.

Recent clinical studies

Etiology

Ahamed MF, Verma P, Lee S, Vega M, Wang D, Kim M, Fuloria M
J Perinatol 2015 Sep;35(9):729-34. Epub 2015 Apr 9 doi: 10.1038/jp.2015.33. [Epub ahead of print] PMID: 25856764
Tekgündüz KŞ, Ceviz N, Caner İ, Olgun H, Demirelli Y, Yolcu C, Şahin İO, Kara M
Cardiol Young 2015 Aug;25(6):1060-4. Epub 2014 Aug 27 doi: 10.1017/S1047951114001577. [Epub ahead of print] PMID: 25160728
García-Montes JA, Camacho-Castro A, Sandoval-Jones JP, Buendía-Hernández A, Calderón-Colmenero J, Patiño-Bahena E, Zabal C
Cardiol Young 2015 Mar;25(3):491-5. Epub 2014 Feb 21 doi: 10.1017/S1047951114000183. [Epub ahead of print] PMID: 24555910
Parikh R, Negrine RJ, Chikermane A, Rasiah SV, Ewer AK
Cardiol Young 2015 Jan;25(1):70-5. Epub 2013 Oct 16 doi: 10.1017/S1047951113001595. [Epub ahead of print] PMID: 24128971
Granja MA, Trentacoste L, Rivarola M, Barbosa JD, Lucini V, Peirone A, Spillman A
Catheter Cardiovasc Interv 2015 Aug;86(2):258-63. Epub 2015 Jul 14 doi: 10.1002/ccd.24912. [Epub ahead of print] PMID: 23460494

Diagnosis

Qu H, Liu T, Wang H, Wang D, Li Q
BMC Cardiovasc Disord 2015 Nov 14;15:149. doi: 10.1186/s12872-015-0146-6. [Epub ahead of print] PMID: 26573628Free PMC Article
Ahamed MF, Verma P, Lee S, Vega M, Wang D, Kim M, Fuloria M
J Perinatol 2015 Sep;35(9):729-34. Epub 2015 Apr 9 doi: 10.1038/jp.2015.33. [Epub ahead of print] PMID: 25856764
García-Montes JA, Camacho-Castro A, Sandoval-Jones JP, Buendía-Hernández A, Calderón-Colmenero J, Patiño-Bahena E, Zabal C
Cardiol Young 2015 Mar;25(3):491-5. Epub 2014 Feb 21 doi: 10.1017/S1047951114000183. [Epub ahead of print] PMID: 24555910
Granja MA, Trentacoste L, Rivarola M, Barbosa JD, Lucini V, Peirone A, Spillman A
Catheter Cardiovasc Interv 2015 Aug;86(2):258-63. Epub 2015 Jul 14 doi: 10.1002/ccd.24912. [Epub ahead of print] PMID: 23460494
Yapakçı E, Ecevit A, Törer B, Ince DA, Gökdemir M, Gülcan H, Tarcan A
Cardiol Young 2014 Aug;24(4):605-9. Epub 2013 Jul 2 doi: 10.1017/S1047951113000772. [Epub ahead of print] PMID: 23816200

Therapy

Lee JA, Kim MJ, Oh S, Choi BM
J Korean Med Sci 2015 Oct;30 Suppl 1:S59-66. Epub 2015 Oct 27 doi: 10.3346/jkms.2015.30.S1.S59. PMID: 26566359Free PMC Article
Ahamed MF, Verma P, Lee S, Vega M, Wang D, Kim M, Fuloria M
J Perinatol 2015 Sep;35(9):729-34. Epub 2015 Apr 9 doi: 10.1038/jp.2015.33. [Epub ahead of print] PMID: 25856764
Tekgündüz KŞ, Ceviz N, Caner İ, Olgun H, Demirelli Y, Yolcu C, Şahin İO, Kara M
Cardiol Young 2015 Aug;25(6):1060-4. Epub 2014 Aug 27 doi: 10.1017/S1047951114001577. [Epub ahead of print] PMID: 25160728
Granja MA, Trentacoste L, Rivarola M, Barbosa JD, Lucini V, Peirone A, Spillman A
Catheter Cardiovasc Interv 2015 Aug;86(2):258-63. Epub 2015 Jul 14 doi: 10.1002/ccd.24912. [Epub ahead of print] PMID: 23460494
Yapakçı E, Ecevit A, Törer B, Ince DA, Gökdemir M, Gülcan H, Tarcan A
Cardiol Young 2014 Aug;24(4):605-9. Epub 2013 Jul 2 doi: 10.1017/S1047951113000772. [Epub ahead of print] PMID: 23816200

Prognosis

Qu H, Liu T, Wang H, Wang D, Li Q
BMC Cardiovasc Disord 2015 Nov 14;15:149. doi: 10.1186/s12872-015-0146-6. [Epub ahead of print] PMID: 26573628Free PMC Article
Ahamed MF, Verma P, Lee S, Vega M, Wang D, Kim M, Fuloria M
J Perinatol 2015 Sep;35(9):729-34. Epub 2015 Apr 9 doi: 10.1038/jp.2015.33. [Epub ahead of print] PMID: 25856764
García-Montes JA, Camacho-Castro A, Sandoval-Jones JP, Buendía-Hernández A, Calderón-Colmenero J, Patiño-Bahena E, Zabal C
Cardiol Young 2015 Mar;25(3):491-5. Epub 2014 Feb 21 doi: 10.1017/S1047951114000183. [Epub ahead of print] PMID: 24555910
Occhipinti F, De Carolis MP, De Rosa G, Bersani I, Lacerenza S, Cota F, Rubortone SA, Romagnoli C
J Matern Fetal Neonatal Med 2014 Nov;27(17):1800-4. Epub 2014 Feb 3 doi: 10.3109/14767058.2014.880879. [Epub ahead of print] PMID: 24397409
Yapakçı E, Ecevit A, Törer B, Ince DA, Gökdemir M, Gülcan H, Tarcan A
Cardiol Young 2014 Aug;24(4):605-9. Epub 2013 Jul 2 doi: 10.1017/S1047951113000772. [Epub ahead of print] PMID: 23816200

Clinical prediction guides

Qu H, Liu T, Wang H, Wang D, Li Q
BMC Cardiovasc Disord 2015 Nov 14;15:149. doi: 10.1186/s12872-015-0146-6. [Epub ahead of print] PMID: 26573628Free PMC Article
Stankowski T, Aboul-Hassan SS, Marczak J, Cichon R
Interact Cardiovasc Thorac Surg 2015 Oct;21(4):532-8. Epub 2015 Jul 9 doi: 10.1093/icvts/ivv185. [Epub ahead of print] PMID: 26160963
Ahamed MF, Verma P, Lee S, Vega M, Wang D, Kim M, Fuloria M
J Perinatol 2015 Sep;35(9):729-34. Epub 2015 Apr 9 doi: 10.1038/jp.2015.33. [Epub ahead of print] PMID: 25856764
Granja MA, Trentacoste L, Rivarola M, Barbosa JD, Lucini V, Peirone A, Spillman A
Catheter Cardiovasc Interv 2015 Aug;86(2):258-63. Epub 2015 Jul 14 doi: 10.1002/ccd.24912. [Epub ahead of print] PMID: 23460494
Yapakçı E, Ecevit A, Törer B, Ince DA, Gökdemir M, Gülcan H, Tarcan A
Cardiol Young 2014 Aug;24(4):605-9. Epub 2013 Jul 2 doi: 10.1017/S1047951113000772. [Epub ahead of print] PMID: 23816200

Recent systematic reviews

Terrin G, Conte F, Oncel MY, Scipione A, McNamara PJ, Simons S, Sinha R, Erdeve O, Tekgunduz KS, Dogan M, Kessel I, Hammerman C, Nadir E, Yurttutan S, Jasani B, Alan S, Manguso F, De Curtis M
Arch Dis Child Fetal Neonatal Ed 2016 Mar;101(2):F127-36. Epub 2015 Aug 17 doi: 10.1136/archdischild-2014-307312. [Epub ahead of print] PMID: 26283668
Bhola K, Foster JP, Osborn DA
Cochrane Database Syst Rev 2015 Nov 3;(11):CD009816. doi: 10.1002/14651858.CD009816.pub2. PMID: 26523368
Ohlsson A, Walia R, Shah SS
Cochrane Database Syst Rev 2015 Feb 18;(2):CD003481. doi: 10.1002/14651858.CD003481.pub6. PMID: 25692606
Le J, Gales MA, Gales BJ
Ann Pharmacother 2015 Feb;49(2):241-6. Epub 2014 Oct 28 doi: 10.1177/1060028014557564. [Epub ahead of print] PMID: 25352038
Baruteau AE, Hascoët S, Baruteau J, Boudjemline Y, Lambert V, Angel CY, Belli E, Petit J, Pass R
Arch Cardiovasc Dis 2014 Feb;107(2):122-32. Epub 2014 Feb 20 doi: 10.1016/j.acvd.2014.01.008. [Epub ahead of print] PMID: 24560920

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