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Pulmonary artery atresia

MedGen UID:
82723
Concept ID:
C0265908
Congenital Abnormality
Synonyms: Congenital atresia of pulmonary artery; Imperforate pulmonary artery; Pulmonary atresia
SNOMED CT: Congenital atresia of pulmonary artery (10930001); Imperforate pulmonary artery (10930001)
 
HPO: HP:0004935

Definition

A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. [from HPO]

Conditions with this feature

Velocardiofacial syndrome
MedGen UID:
65085
Concept ID:
C0220704
Disease or Syndrome
Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.
CHARGE association
MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.
Pulmonary atresia with intact ventricular septum
MedGen UID:
87491
Concept ID:
C0344975
Congenital Abnormality
A rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. It presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.
Pulmonary atresia with ventricular septal defect
MedGen UID:
87492
Concept ID:
C0344976
Congenital Abnormality
Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term).
Matthew-Wood syndrome
MedGen UID:
318679
Concept ID:
C1832661
Disease or Syndrome
Syndromic microphthalmia-9, also referred to as pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect, is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac malformations, and diaphragmatic defects. The phenotype is variable, ranging from isolated clinical anophthalmia or microphthalmia to complex presentations involving the cardiac, pulmonary, diaphragmatic, and renal systems. At its most severe, infants are born without pulmonary structures and die soon after birth (Marcadier et al., 2015).
Atrioventricular septal defect, susceptibility to, 2
MedGen UID:
381193
Concept ID:
C1853508
Finding
Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene.
Cardiac valvular defect, developmental
MedGen UID:
349143
Concept ID:
C1859330
Disease or Syndrome
Cardiac valvular dysplasia-1 (CVDP1) is characterized by congenital malformations of the pulmonic, tricuspid, and mitral valves. Structural cardiac defects, including atrial and ventricular septal defects, single left ventricle, and hypoplastic right ventricle have also been observed in affected individuals (Ta-Shma et al., 2017). Genetic Heterogeneity of Cardiac Valvular Dysplasia CVDP2 (620067) is caused by mutation in the ADAMTS19 gene (607513) on chromosome 5q23.
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
MedGen UID:
414129
Concept ID:
C2751878
Disease or Syndrome
A rare syndrome with characteristics of pre-natal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.
Heterotaxy, visceral, 4, autosomal
MedGen UID:
462407
Concept ID:
C3151057
Disease or Syndrome
Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
FADD-related immunodeficiency
MedGen UID:
462412
Concept ID:
C3151062
Disease or Syndrome
Immunodeficiency-90 with encephalopathy, functional hyposplenia, and hepatic dysfunction (IMD90) is a autosomal recessive complex immunologic disorder with systemic manifestations in addition to primary immunodeficiency. Affected individuals usually present in infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging. There is also liver involvement and functional hyposplenism, causing increased susceptibility to invasive pneumococcal infection, which may be fatal. Susceptibility to viral infections likely results from impaired interferon immunity, and bacterial infections likely result from splenic dysfunction. A subset of patients have congenital cardiac malformations. Most individuals demonstrate developmental delay and speech delay. Laboratory findings in affected individuals are similar to those seen in autoimmune lymphoproliferative syndrome (ALPS; 601859), including high-circulating CD4-/CD8-/TCR-alpha-beta+ (double-negative) T-cell (DNT) counts, and elevated IL10 (124092) and FASL (TNFSF6; 134638) levels, but the clinical features are somewhat different from ALPS: massive lymphadenopathy and autoimmune features are not observed in IMD90 (summary by Bolze et al., 2010, Savic et al., 2015 and Kohn et al., 2020).
Congenital heart defects, multiple types, 6
MedGen UID:
462571
Concept ID:
C3151221
Congenital Abnormality
Multiple types of congenital heart defects are associated with mutation in the GDF1 gene, including tetralogy of fallot (TOF), transposition of the great arteries (TGA), double-outlet right ventricle (DORV), total anomalous pulmonary venous return (TAPVR), pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect (VSD), and hypoplastic left or right ventricle (Jin et al., 2017). For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955.
Right atrial isomerism
MedGen UID:
465274
Concept ID:
C3178806
Congenital Abnormality
Right atrial isomerism (RAI) is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).
Atrial septal defect 7
MedGen UID:
477726
Concept ID:
C3276096
Disease or Syndrome
An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.
Heterotaxy, visceral, 5, autosomal
MedGen UID:
501198
Concept ID:
C3495537
Congenital Abnormality
Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Autosomal dominant Robinow syndrome 3
MedGen UID:
907878
Concept ID:
C4225164
Disease or Syndrome
Autosomal dominant Robinow syndrome (ADRS) is characterized by skeletal findings (short stature, mesomelic limb shortening predominantly of the upper limbs, and brachydactyly), genital abnormalities (in males: micropenis / webbed penis, hypoplastic scrotum, cryptorchidism; in females: hypoplastic clitoris and labia majora), dysmorphic facial features (widely spaced and prominent eyes, frontal bossing, anteverted nares, midface retrusion), dental abnormalities (including malocclusion, crowding, hypodontia, late eruption of permanent teeth), bilobed tongue, and occasional prenatal macrocephaly that persists postnatally. Less common findings include renal anomalies, radial head dislocation, vertebral abnormalities such as hemivertebrae and scoliosis, nail dysplasia, cardiac defects, cleft lip/palate, and (rarely) cognitive delay. When present, cardiac defects are a major cause of morbidity and mortality. A variant of Robinow syndrome, associated with osteosclerosis and caused by a heterozygous pathogenic variant in DVL1, is characterized by normal stature, persistent macrocephaly, increased bone mineral density with skull osteosclerosis, and hearing loss, in addition to the typical features described above.
Heterotaxy, visceral, 7, autosomal
MedGen UID:
902629
Concept ID:
C4225217
Disease or Syndrome
Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Heterotaxy, visceral, 8, autosomal
MedGen UID:
934635
Concept ID:
C4310668
Disease or Syndrome
Autosomal visceral heterotaxy-8 (HTX8) is an autosomal recessive developmental disorder characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs (summary by Vetrini et al., 2016). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Intellectual developmental disorder with cardiac defects and dysmorphic facies
MedGen UID:
1675627
Concept ID:
C5193024
Disease or Syndrome
IDDCDF is an autosomal recessive syndromic neurodevelopmental disorder characterized by globally impaired development with intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Additional features, such as distal skeletal anomalies, may also be observed (Stephen et al., 2018).
Congenital heart defects, multiple types, 7
MedGen UID:
1714491
Concept ID:
C5394062
Congenital Abnormality
Multiple types of congenital heart defects-7 (CHTD7) is an autosomal dominant disorder with incomplete penetrance characterized mainly by tetralogy of Fallot but also including right-sided aortic arch, absent pulmonary valve, and other cardiac abnormalities (Jin et al., 2017, Reuter et al., 2019).
Multiple congenital anomalies-neurodevelopmental syndrome, x-linked
MedGen UID:
1788942
Concept ID:
C5542341
Disease or Syndrome
X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND) is an X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. Pathogenetically, the disorder results from disrupted gene expression and signaling during embryogenesis, thus affecting multiple systems (summary by Tripolszki et al., 2021 and Beck et al., 2021). Beck et al. (2021) referred to the disorder as LINKED syndrome (LINKage-specific deubiquitylation deficiency-induced Embryonic Defects).
Heterotaxy, visceral, 12, autosomal
MedGen UID:
1803695
Concept ID:
C5676898
Congenital Abnormality
Visceral heterotaxy-12 (HTX12) is an embryonic developmental disorder characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects. The phenotype is highly variable, ranging from complete organ reversal (situs inversus totalis) to selective misarrangement of organs (situs ambiguus) such as the liver, spleen, and pancreas. The disorder is often associated with dextrocardia or variable complex congenital heart defects. Early death may occur in the most severe cases (summary by Szenker-Ravi et al., 2022). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).

Recent clinical studies

Etiology

Piskin S, Altin HF, Yildiz O, Bakir I, Pekkan K
J Biomech 2017 Jan 4;50:166-171. Epub 2016 Nov 11 doi: 10.1016/j.jbiomech.2016.11.014. PMID: 27866675
Dagnegård HH, Ryom P
Eur J Cardiothorac Surg 2016 Dec;50(6):1210-1211. Epub 2016 Jun 3 doi: 10.1093/ejcts/ezw192. PMID: 27261076
Bonnel AR, Paruchuri V, Franklin WJ
Cardiol Young 2016 Jan;26(1):209-13. Epub 2015 Jul 21 doi: 10.1017/S1047951115000670. PMID: 26194906
Fujishiro J, Ishimaru T, Sugiyama M, Arai M, Uotani C, Yoshida M, Miyakawa K, Kakihara T, Iwanaka T
J Laparoendosc Adv Surg Tech A 2015 Apr;25(4):348-51. Epub 2014 Dec 23 doi: 10.1089/lap.2014.0260. PMID: 25536425
Yin L, Lu B, Han L, Wu RZ, Johnson L, Xu ZY, Jiang SL, Dai RP
Eur J Radiol 2011 Sep;79(3):480-5. Epub 2010 Jun 2 doi: 10.1016/j.ejrad.2010.04.032. PMID: 20627639

Diagnosis

Goel N, Goyal N, Kumar R
Monaldi Arch Chest Dis 2021 Feb 2;91(1) doi: 10.4081/monaldi.2021.1613. PMID: 33550793
Tadele H, Gedlu E
Ethiop J Health Sci 2020 Nov;30(6):1043-1046. doi: 10.4314/ejhs.v30i6.24. PMID: 33883851Free PMC Article
Shen CT, Qiu ZL, Han TT, Luo QY
Ann Nucl Med 2014 Dec;28(10):1027-31. Epub 2014 Aug 8 doi: 10.1007/s12149-014-0891-0. PMID: 25103136
Yin L, Lu B, Han L, Wu RZ, Johnson L, Xu ZY, Jiang SL, Dai RP
Eur J Radiol 2011 Sep;79(3):480-5. Epub 2010 Jun 2 doi: 10.1016/j.ejrad.2010.04.032. PMID: 20627639
Harris KM, Lloyd DC, Morrissey B, Adams H
Clin Radiol 1992 Jun;45(6):382-6. doi: 10.1016/s0009-9260(05)80995-x. PMID: 1606795

Therapy

Bonnel AR, Paruchuri V, Franklin WJ
Cardiol Young 2016 Jan;26(1):209-13. Epub 2015 Jul 21 doi: 10.1017/S1047951115000670. PMID: 26194906
Shah AS, Michler RE
Ann Thorac Surg 1995 Jun;59(6):1557-9. doi: 10.1016/0003-4975(94)00908-p. PMID: 7771840

Prognosis

Piskin S, Altin HF, Yildiz O, Bakir I, Pekkan K
J Biomech 2017 Jan 4;50:166-171. Epub 2016 Nov 11 doi: 10.1016/j.jbiomech.2016.11.014. PMID: 27866675
Dagnegård HH, Ryom P
Eur J Cardiothorac Surg 2016 Dec;50(6):1210-1211. Epub 2016 Jun 3 doi: 10.1093/ejcts/ezw192. PMID: 27261076
Bonnel AR, Paruchuri V, Franklin WJ
Cardiol Young 2016 Jan;26(1):209-13. Epub 2015 Jul 21 doi: 10.1017/S1047951115000670. PMID: 26194906
Yu FF, Lu B, Gao Y, Hou ZH, Schoepf UJ, Spearman JV, Cao HL, Sun ML, Jiang SL
J Cardiovasc Comput Tomogr 2013 Nov-Dec;7(6):383-90. Epub 2013 Nov 8 doi: 10.1016/j.jcct.2013.11.004. PMID: 24331934
Servais L, Baudoin H, Zehrouni K, Richard P, Sternberg D, Fournier E, Eymard B, Stojkovic T
J Neurol 2013 Mar;260(3):815-9. Epub 2012 Oct 30 doi: 10.1007/s00415-012-6709-x. PMID: 23108489

Clinical prediction guides

Piskin S, Altin HF, Yildiz O, Bakir I, Pekkan K
J Biomech 2017 Jan 4;50:166-171. Epub 2016 Nov 11 doi: 10.1016/j.jbiomech.2016.11.014. PMID: 27866675
Fujishiro J, Ishimaru T, Sugiyama M, Arai M, Uotani C, Yoshida M, Miyakawa K, Kakihara T, Iwanaka T
J Laparoendosc Adv Surg Tech A 2015 Apr;25(4):348-51. Epub 2014 Dec 23 doi: 10.1089/lap.2014.0260. PMID: 25536425
Baradaran N, Ahmadi H, Nejat F, El Khashab M, Mahdavi A
Pediatr Neurosurg 2008;44(5):353-9. Epub 2008 Aug 15 doi: 10.1159/000149900. PMID: 18703879
Jianrong L, Yinglong L, Xiaodong L, Cuntao Y, Bin C, Bo W
Birth Defects Res A Clin Mol Teratol 2006 Apr;76(4):262-5. doi: 10.1002/bdra.20246. PMID: 16575883
Yuan SM, Chang Q, Guo YR, Guo JQ
Kaohsiung J Med Sci 1998 May;14(5):258-65. PMID: 9619010

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