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Atrial septal defect 5(ASD5)

MedGen UID:
412580
•Concept ID:
C2748552
•
Congenital Abnormality; Disease or Syndrome
Synonym: ASD5
 
Gene (location): ACTC1 (15q14)
 
Monarch Initiative: MONDO:0013011
OMIM®: 612794

Definition

Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene. [from MONDO]

Clinical features

From HPO
Atrial septal defect, ostium secundum type
MedGen UID:
91034
•Concept ID:
C0344724
•
Congenital Abnormality
A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Adult Congenital Heart Disease: Report from a Public Reference Hospital in Northeastern Brazil.
Diogenes MSB, Valente AS, Rocha HAL
Braz J Cardiovasc Surg 2023 Oct 6;38(6):e20230039. doi: 10.21470/1678-9741-2023-0039. PMID: 37801566Free PMC Article
Early characteristics of infants with pulmonary hypertension in a referral neonatal intensive care unit.
Vyas-Read S, Kanaan U, Shankar P, Stremming J, Travers C, Carlton DP, Fitzpatrick A
BMC Pediatr 2017 Jul 11;17(1):163. doi: 10.1186/s12887-017-0910-0. PMID: 28697724Free PMC Article
Decline in platelet count after percutaneous transcatheter closure of congenital heart disease.
Zhou D, Zhang X, Pan W, Ge J
Acta Cardiol 2013 Aug;68(4):373-9. doi: 10.1080/ac.68.4.2988890. PMID: 24187763
Endothelin receptor antagonists improve exercise tolerance and oxygen saturations in patients with Eisenmenger syndrome and congenital heart defects.
Mehta PK, Simpson L, Lee EK, Lyle TA, McConnell ME, Book WM
Tex Heart Inst J 2008;35(3):256-61. PMID: 18941642Free PMC Article
Congenital heart disease in infants of diabetic mothers: echocardiographic study.
Abu-Sulaiman RM, Subaih B
Pediatr Cardiol 2004 Mar-Apr;25(2):137-40. Epub 2003 Dec 4 doi: 10.1007/s00246-003-0538-8. PMID: 14648003

Diagnosis

Adult Congenital Heart Disease: Report from a Public Reference Hospital in Northeastern Brazil.
Diogenes MSB, Valente AS, Rocha HAL
Braz J Cardiovasc Surg 2023 Oct 6;38(6):e20230039. doi: 10.21470/1678-9741-2023-0039. PMID: 37801566Free PMC Article
Early characteristics of infants with pulmonary hypertension in a referral neonatal intensive care unit.
Vyas-Read S, Kanaan U, Shankar P, Stremming J, Travers C, Carlton DP, Fitzpatrick A
BMC Pediatr 2017 Jul 11;17(1):163. doi: 10.1186/s12887-017-0910-0. PMID: 28697724Free PMC Article
Clinical analysis on application of color Doppler echocardiographic in cortriatrium diagnosis.
Chen DL, An XJ, Cui CY, Qin M, Du JX
Eur Rev Med Pharmacol Sci 2015 Sep;19(17):3266-9. PMID: 26400533
Decline in platelet count after percutaneous transcatheter closure of congenital heart disease.
Zhou D, Zhang X, Pan W, Ge J
Acta Cardiol 2013 Aug;68(4):373-9. doi: 10.1080/ac.68.4.2988890. PMID: 24187763
Congenital heart disease in infants of diabetic mothers: echocardiographic study.
Abu-Sulaiman RM, Subaih B
Pediatr Cardiol 2004 Mar-Apr;25(2):137-40. Epub 2003 Dec 4 doi: 10.1007/s00246-003-0538-8. PMID: 14648003

Therapy

Clinical analysis on application of color Doppler echocardiographic in cortriatrium diagnosis.
Chen DL, An XJ, Cui CY, Qin M, Du JX
Eur Rev Med Pharmacol Sci 2015 Sep;19(17):3266-9. PMID: 26400533
Decline in platelet count after percutaneous transcatheter closure of congenital heart disease.
Zhou D, Zhang X, Pan W, Ge J
Acta Cardiol 2013 Aug;68(4):373-9. doi: 10.1080/ac.68.4.2988890. PMID: 24187763
Endothelin receptor antagonists improve exercise tolerance and oxygen saturations in patients with Eisenmenger syndrome and congenital heart defects.
Mehta PK, Simpson L, Lee EK, Lyle TA, McConnell ME, Book WM
Tex Heart Inst J 2008;35(3):256-61. PMID: 18941642Free PMC Article
Comparison of effects of prostaglandin E1 and nitroprusside on pulmonary vascular resistance in children after open-heart surgery.
Rubis LJ, Stephenson LW, Johnston MR, Nagaraj S, Edmunds LH Jr
Ann Thorac Surg 1981 Dec;32(6):563-70. doi: 10.1016/s0003-4975(10)61799-7. PMID: 7198428

Prognosis

Early characteristics of infants with pulmonary hypertension in a referral neonatal intensive care unit.
Vyas-Read S, Kanaan U, Shankar P, Stremming J, Travers C, Carlton DP, Fitzpatrick A
BMC Pediatr 2017 Jul 11;17(1):163. doi: 10.1186/s12887-017-0910-0. PMID: 28697724Free PMC Article
Decline in platelet count after percutaneous transcatheter closure of congenital heart disease.
Zhou D, Zhang X, Pan W, Ge J
Acta Cardiol 2013 Aug;68(4):373-9. doi: 10.1080/ac.68.4.2988890. PMID: 24187763
Congenital heart disease in infants of diabetic mothers: echocardiographic study.
Abu-Sulaiman RM, Subaih B
Pediatr Cardiol 2004 Mar-Apr;25(2):137-40. Epub 2003 Dec 4 doi: 10.1007/s00246-003-0538-8. PMID: 14648003
Indications and contraindications for heart transplantation in infancy.
Boucek MM, Mathis CM, Razzouk A, Gundry SR, Bailey LL, Fullerton DA, Campbell DN
J Heart Lung Transplant 1993 Nov-Dec;12(6 Pt 2):S154-8. PMID: 8312327

Clinical prediction guides

Decline in platelet count after percutaneous transcatheter closure of congenital heart disease.
Zhou D, Zhang X, Pan W, Ge J
Acta Cardiol 2013 Aug;68(4):373-9. doi: 10.1080/ac.68.4.2988890. PMID: 24187763
Congenital heart disease in infants of diabetic mothers: echocardiographic study.
Abu-Sulaiman RM, Subaih B
Pediatr Cardiol 2004 Mar-Apr;25(2):137-40. Epub 2003 Dec 4 doi: 10.1007/s00246-003-0538-8. PMID: 14648003
Indications and contraindications for heart transplantation in infancy.
Boucek MM, Mathis CM, Razzouk A, Gundry SR, Bailey LL, Fullerton DA, Campbell DN
J Heart Lung Transplant 1993 Nov-Dec;12(6 Pt 2):S154-8. PMID: 8312327

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    Related information

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    • GTR
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      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
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