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Atrial septal defect 6(ASD6)

MedGen UID:
414348
•Concept ID:
C2751315
•
Congenital Abnormality
Synonym: ASD6
 
Gene (location): TLL1 (4q32.3)
 
Monarch Initiative: MONDO:0013123
OMIM®: 613087

Definition

Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene. [from MONDO]

Clinical features

From HPO
Atrial fibrillation
MedGen UID:
445
•Concept ID:
C0004238
•
Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
See: Feature record | Search on this feature
Atrial septal defect
MedGen UID:
6753
•Concept ID:
C0018817
•
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
See: Feature record | Search on this feature
Bradycardia
MedGen UID:
140901
•Concept ID:
C0428977
•
Finding
A slower than normal heart rate (in adults, slower than 60 beats per minute).
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Single-Center Experience with Minimally Invasive Mitral Operations through Right Minithoracotomy.
Pojar M, Vojacek J, Karalko M, Turek Z
Ann Thorac Cardiovasc Surg 2019 Feb 20;25(1):18-25. Epub 2018 Sep 20 doi: 10.5761/atcs.oa.18-00100. PMID: 30232298Free PMC Article
Attributable fraction for cardiac malformations.
Wilson PD, Loffredo CA, Correa-Villaseñor A, Ferencz C
Am J Epidemiol 1998 Sep 1;148(5):414-23. doi: 10.1093/oxfordjournals.aje.a009666. PMID: 9737553

Diagnosis

Intracardiac flow dynamics with bi-directional ultrasonic pulsed Doppler technique.
Matsuo H, Kitabatake A, Hayashi T, Asao M, Terao Y
Jpn Circ J 1977 May;41(5):515-28. doi: 10.1253/jcj.41.515. PMID: 141534

Therapy

Single-Center Experience with Minimally Invasive Mitral Operations through Right Minithoracotomy.
Pojar M, Vojacek J, Karalko M, Turek Z
Ann Thorac Cardiovasc Surg 2019 Feb 20;25(1):18-25. Epub 2018 Sep 20 doi: 10.5761/atcs.oa.18-00100. PMID: 30232298Free PMC Article

Clinical prediction guides

Port-access cardiac surgery. Experience with 34 cases at Keio University Hospital.
Yozu R, Shin H, Maehara T, Iino Y, Mitsumaru A, Kawada S
Jpn J Thorac Cardiovasc Surg 2001 Jun;49(6):360-4. doi: 10.1007/BF02913150. PMID: 11481838
Infants with critical heart disease in a territory with centralized care.
Samánek M, Vorísková M
Int J Cardiol 1987 Jul;16(1):75-91. doi: 10.1016/0167-5273(87)90272-5. PMID: 3610398
Glycogen aggregates in cardiac muscle cell: a cytopathological study on endomyocardial biopsies.
Miura K, Izumi T, Fukuda J, Yamazoe M, Tamura K
Arch Histol Jpn 1982 Sep;45(4):347-54. doi: 10.1679/aohc.45.347. PMID: 7165494
Intracardiac flow dynamics with bi-directional ultrasonic pulsed Doppler technique.
Matsuo H, Kitabatake A, Hayashi T, Asao M, Terao Y
Jpn Circ J 1977 May;41(5):515-28. doi: 10.1253/jcj.41.515. PMID: 141534

Supplemental Content

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      Related Medical Subject Headings
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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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