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Primum atrial septal defect

MedGen UID:
83374
Concept ID:
C0344735
Congenital Abnormality
Synonyms: Ostium primum atrial septal defect; Primum atrioventricular canal defect; Septum primum defect
SNOMED CT: Atrioventricular septal defect - isolated atrial component (253373002); Primum atrial septal defect (253373002); 1 ASD - Primum atrial septal defect (253373002); Partial atrioventricular septal defect (253373002); ASD I - Primum atrial septal defect (253373002); ASD1 - Primum atrial septal defect (253373002)
 
HPO: HP:0010445
OMIM®: 108800

Definition

An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimum atrial septal defect
Follow this link to review classifications for Primum atrial septal defect in Orphanet.

Conditions with this feature

Atrioventricular septal defect 4
MedGen UID:
482411
Concept ID:
C3280781
Disease or Syndrome
The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006). AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992). For a discussion of genetic heterogeneity of atrioventricular septal defects, see AVSD1 (606215).
Fanconi anemia complementation group Q
MedGen UID:
815318
Concept ID:
C3808988
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Biliary, renal, neurologic, and skeletal syndrome
MedGen UID:
1794200
Concept ID:
C5561990
Disease or Syndrome
Biliary, renal, neurologic, and skeletal syndrome (BRENS) is an autosomal recessive complex ciliopathy with multisystemic manifestations. The most common presentation is severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis. Most patients have additional clinical features suggestive of a ciliopathy, including postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features of the syndrome may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development (summary by Shaheen et al., 2020 and David et al., 2020).
Heterotaxy, visceral, 11, autosomal, with male infertility
MedGen UID:
1794229
Concept ID:
C5562019
Disease or Syndrome
Visceral heterotaxy-11 (HTX11) is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Affected individuals may experience mild chronic respiratory symptoms, but do not fulfill the criteria for primary ciliary dyskinesia (see 244400). Male infertility associated with reduced flagellar motility has been reported (Dougherty et al., 2020). For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).

Professional guidelines

PubMed

Shuler CO, Tripathi A, Black GB, Park YM, Jerrell JM
Pediatr Cardiol 2013 Oct;34(7):1723-8. Epub 2013 Apr 26 doi: 10.1007/s00246-013-0705-5. PMID: 23619832
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Recent clinical studies

Etiology

Mery CM, Zea-Vera R, Chacon-Portillo MA, Zhang W, Binder MS, Kyle WB, Adachi I, Heinle JS, Fraser CD Jr
J Thorac Cardiovasc Surg 2019 Mar;157(3):1117-1127.e4. Epub 2018 Nov 24 doi: 10.1016/j.jtcvs.2018.10.154. PMID: 31079807
L'Italien K, Conlon S, Kertesz N, Bezold L, Kamp A
J Am Soc Echocardiogr 2018 Oct;31(10):1146-1150. Epub 2018 Jul 31 doi: 10.1016/j.echo.2018.05.001. PMID: 30076010
Kumar AS, Choudhary SK, Ray R, Talwar S, Juneja R
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Jemielity M, Perek B, Paluszkiewicz L, Dyszkiewicz W
J Heart Valve Dis 2001 Jul;10(4):525-9. PMID: 11499601
Najm HK, Williams WG, Chuaratanaphong S, Watzka SB, Coles JG, Freedom RM
Ann Thorac Surg 1998 Sep;66(3):829-35. doi: 10.1016/s0003-4975(98)00607-9. PMID: 9768938

Diagnosis

Fiore C, Kemaloglu Oz T, Lombardi L, Sinani R, Gregorini R, Almaghraby A
Echocardiography 2021 May;38(5):767-771. Epub 2021 Mar 28 doi: 10.1111/echo.15041. PMID: 33778991
Garg A, Agrawal D, Mishra D, Sharma GL
Echocardiography 2019 Jul;36(7):1421-1422. Epub 2019 Jun 19 doi: 10.1111/echo.14408. PMID: 31215689
Calabrò R, Limongelli G
Orphanet J Rare Dis 2006 Apr 5;1:8. doi: 10.1186/1750-1172-1-8. PMID: 16722604Free PMC Article
Sadeghi AM, Laks H, Pearl JM
Semin Thorac Cardiovasc Surg 1997 Jan;9(1):2-7. PMID: 9109219
Martin CE, Thomas CS Jr, Bender HW Jr
South Med J 1976 Aug;69(8):1058-60. doi: 10.1097/00007611-197608000-00032. PMID: 959873

Therapy

Mery CM, Zea-Vera R, Chacon-Portillo MA, Zhang W, Binder MS, Kyle WB, Adachi I, Heinle JS, Fraser CD Jr
J Thorac Cardiovasc Surg 2019 Mar;157(3):1117-1127.e4. Epub 2018 Nov 24 doi: 10.1016/j.jtcvs.2018.10.154. PMID: 31079807
Spoto S, Valeriani E, Locorriere L, Anguissola GB, Pantano AL, Terracciani F, Riva E, Ciccozzi M, Costantino S, Angeletti S
BMC Infect Dis 2019 Jan 10;19(1):40. doi: 10.1186/s12879-018-3606-7. PMID: 30630424Free PMC Article
Zhou T, Li J, Lai H, Zhu K, Sun Y, Wang Y, Ding W, Hong T, Wang C
Interact Cardiovasc Thorac Surg 2018 Mar 1;26(3):468-473. doi: 10.1093/icvts/ivx349. PMID: 29069357
Chen L, Hao J, Ma RY, Chen BC, Cheng W, Qin C, Wang XF, Xiao YB
Heart Surg Forum 2013 Oct;16(5):E257-63. doi: 10.1532/HSF98.2013217. PMID: 24217239
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J Cardiovasc Med (Hagerstown) 2010 Sep;11(9):689-91. doi: 10.2459/JCM.0b013e3283324730. PMID: 19966572

Prognosis

Mery CM, Zea-Vera R, Chacon-Portillo MA, Zhang W, Binder MS, Kyle WB, Adachi I, Heinle JS, Fraser CD Jr
J Thorac Cardiovasc Surg 2019 Mar;157(3):1117-1127.e4. Epub 2018 Nov 24 doi: 10.1016/j.jtcvs.2018.10.154. PMID: 31079807
Calabrò R, Limongelli G
Orphanet J Rare Dis 2006 Apr 5;1:8. doi: 10.1186/1750-1172-1-8. PMID: 16722604Free PMC Article
Kumar AS, Choudhary SK, Ray R, Talwar S, Juneja R
Indian Heart J 2002 May-Jun;54(3):289-91. PMID: 12216926
Jemielity M, Perek B, Paluszkiewicz L, Dyszkiewicz W
J Heart Valve Dis 2001 Jul;10(4):525-9. PMID: 11499601
Najm HK, Williams WG, Chuaratanaphong S, Watzka SB, Coles JG, Freedom RM
Ann Thorac Surg 1998 Sep;66(3):829-35. doi: 10.1016/s0003-4975(98)00607-9. PMID: 9768938

Clinical prediction guides

Loar RW, Burkhart HM, Taggart NW
Heart Surg Forum 2014 Aug;17(4):E232-3. doi: 10.1532/HSF98.2014358. PMID: 25179980
Adebo D, Louis JS, Prosen T, Sivanandam S
World J Pediatr Congenit Heart Surg 2013 Apr;4(2):177-81. doi: 10.1177/2150135113476521. PMID: 23799731
Jemielity M, Perek B, Paluszkiewicz L, Dyszkiewicz W
J Heart Valve Dis 2001 Jul;10(4):525-9. PMID: 11499601
Najm HK, Williams WG, Chuaratanaphong S, Watzka SB, Coles JG, Freedom RM
Ann Thorac Surg 1998 Sep;66(3):829-35. doi: 10.1016/s0003-4975(98)00607-9. PMID: 9768938
Lipshultz SE, Sanders SP, Mayer JE, Colan SD, Lock JE
J Am Coll Cardiol 1988 Feb;11(2):373-8. doi: 10.1016/0735-1097(88)90105-2. PMID: 3339177

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