U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Atrial septal defect 7(ASD7)

MedGen UID:
477726
Concept ID:
C3276096
Disease or Syndrome
Synonyms: ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS; ATRIAL SEPTAL DEFECT 7 WITH ATRIOVENTRICULAR CONDUCTION DEFECTS; Atrial septal defect 7 with or without atrioventricular conduction defects; ATRIAL SEPTAL DEFECT 7 WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS; Atrial septal defect with atrioventricular conduction defects; Atrial septal defect with atrioventricular conduction defects, somatic; Atrial septal defect-atrioventricular conduction defects syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): NKX2-5 (5q35.1)
 
Monarch Initiative: MONDO:0007173
OMIM®: 108900
Orphanet: ORPHA1479

Definition

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. [from ORDO]

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.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Tetralogy of Fallot
MedGen UID:
21498
Concept ID:
C0039685
Congenital Abnormality
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.\n\nEach 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.\n\nSome 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.\n\nAlthough 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.\n\nCritical 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.
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Pulmonary artery atresia
MedGen UID:
82723
Concept ID:
C0265908
Congenital Abnormality
A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
Subvalvular aortic stenosis
MedGen UID:
90950
Concept ID:
C0340375
Disease or Syndrome
A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.
Secundum atrial septal defect
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.
Prolonged PR interval
MedGen UID:
154645
Concept ID:
C0600125
Finding
Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).

Professional guidelines

PubMed

Muhsin E, Basak G, Banu D, Alper G, Mustafa S
J Mol Neurosci 2022 Jan;72(1):149-157. Epub 2021 Aug 12 doi: 10.1007/s12031-021-01897-5. PMID: 34386909
Tamai J, Kosakai Y, Yoshioka T, Ohnishi E, Takaki H, Okano Y, Kawashima Y
Circulation 1995 May 1;91(9):2392-9. doi: 10.1161/01.cir.91.9.2392. PMID: 7729026

Recent clinical studies

Etiology

Callegari A, Quandt D, Nordmeyer J, Schubert S, Kramer P, Knirsch W, Kretschmar O
J Interv Cardiol 2022;2022:3476398. Epub 2022 Dec 30 doi: 10.1155/2022/3476398. PMID: 36684829Free PMC Article
Ebuoka N, Asai H, Arai Y, Oba J, Sakai W, Tachibana T
J Card Surg 2022 Dec;37(12):4797-4802. Epub 2022 Nov 6 doi: 10.1111/jocs.17131. PMID: 36335627
Wu SJ, Fan YF, Chien CY
Asian J Surg 2022 Jan;45(1):62-67. Epub 2021 Jul 1 doi: 10.1016/j.asjsur.2021.06.021. PMID: 34217557
Heaton JN, Okoh AK, Suh S, Ozturk E, Salemi A, Waxman S, Tayal R
Cardiovasc Revasc Med 2022 Apr;37:52-60. Epub 2021 Jun 17 doi: 10.1016/j.carrev.2021.06.002. PMID: 34183276Free PMC Article
Puga L, Teixeira R, Paiva L, Ribeiro JM, Gameiro J, Sousa JP, Costa M, Gonçalves L
Int J Cardiovasc Imaging 2021 Aug;37(8):2359-2368. Epub 2021 Mar 14 doi: 10.1007/s10554-021-02212-4. PMID: 33715110

Diagnosis

Nakamura Y, Sohara H, Ihara M
Heart Vessels 2022 Aug;37(8):1418-1424. Epub 2022 Feb 21 doi: 10.1007/s00380-022-02039-6. PMID: 35188586
Heaton JN, Okoh AK, Suh S, Ozturk E, Salemi A, Waxman S, Tayal R
Cardiovasc Revasc Med 2022 Apr;37:52-60. Epub 2021 Jun 17 doi: 10.1016/j.carrev.2021.06.002. PMID: 34183276Free PMC Article
Puga L, Teixeira R, Paiva L, Ribeiro JM, Gameiro J, Sousa JP, Costa M, Gonçalves L
Int J Cardiovasc Imaging 2021 Aug;37(8):2359-2368. Epub 2021 Mar 14 doi: 10.1007/s10554-021-02212-4. PMID: 33715110
Ellesøe SG, Johansen MM, Bjerre JV, Hjortdal VE, Brunak S, Larsen LA
Congenit Heart Dis 2016 May;11(3):283-90. Epub 2015 Dec 18 doi: 10.1111/chd.12317. PMID: 26679770Free PMC Article
Loomba RS, Chandrasekar S, Sanan P, Shah PH, Arora RR
Expert Rev Cardiovasc Ther 2011 Jul;9(7):887-93. doi: 10.1586/erc.11.39. PMID: 21809970

Therapy

Baroutidou A, Arvanitaki A, Farmakis IT, Patsiou V, Giannopoulos A, Efthimiadis G, Ziakas A, Giannakoulas G
Heart 2023 Nov 10;109(23):1741-1750. doi: 10.1136/heartjnl-2023-322529. PMID: 37380331Free PMC Article
Nakamura Y, Sohara H, Ihara M
Heart Vessels 2022 Aug;37(8):1418-1424. Epub 2022 Feb 21 doi: 10.1007/s00380-022-02039-6. PMID: 35188586
Callahan CP, Jegatheeswaran A, Barron DJ, Husain SA, Fuller S, Overman DM, McCrindle BW; Congenital Heart Surgeons' Society Atrioventricular Septal Defect Working Group
J Thorac Cardiovasc Surg 2022 Mar;163(3):1142-1152.e6. Epub 2021 Sep 8 doi: 10.1016/j.jtcvs.2021.06.067. PMID: 34627603
Heaton JN, Okoh AK, Suh S, Ozturk E, Salemi A, Waxman S, Tayal R
Cardiovasc Revasc Med 2022 Apr;37:52-60. Epub 2021 Jun 17 doi: 10.1016/j.carrev.2021.06.002. PMID: 34183276Free PMC Article
Kent DM, Saver JL, Kasner SE, Nelson J, Carroll JD, Chatellier G, Derumeaux G, Furlan AJ, Herrmann HC, Jüni P, Kim JS, Koethe B, Lee PH, Lefebvre B, Mattle HP, Meier B, Reisman M, Smalling RW, Soendergaard L, Song JK, Mas JL, Thaler DE
JAMA 2021 Dec 14;326(22):2277-2286. doi: 10.1001/jama.2021.20956. PMID: 34905030Free PMC Article

Prognosis

Callegari A, Quandt D, Nordmeyer J, Schubert S, Kramer P, Knirsch W, Kretschmar O
J Interv Cardiol 2022;2022:3476398. Epub 2022 Dec 30 doi: 10.1155/2022/3476398. PMID: 36684829Free PMC Article
Nakamura Y, Sohara H, Ihara M
Heart Vessels 2022 Aug;37(8):1418-1424. Epub 2022 Feb 21 doi: 10.1007/s00380-022-02039-6. PMID: 35188586
Alstrup M, Karunanithi Z, Maagaard MØ, Poulsen SH, Hjortdal VE
Eur J Cardiothorac Surg 2021 Dec 27;61(1):83-89. doi: 10.1093/ejcts/ezab235. PMID: 34015096Free PMC Article
Puga L, Teixeira R, Paiva L, Ribeiro JM, Gameiro J, Sousa JP, Costa M, Gonçalves L
Int J Cardiovasc Imaging 2021 Aug;37(8):2359-2368. Epub 2021 Mar 14 doi: 10.1007/s10554-021-02212-4. PMID: 33715110
Kamphuis VP, Nassif M, Man SC, Swenne CA, Kors JA, Vink AS, Ten Harkel ADJ, Maan AC, Mulder BJM, de Winter RJ, Blom NA
Int J Cardiol 2019 Jun 15;285:32-39. Epub 2019 Feb 23 doi: 10.1016/j.ijcard.2019.02.020. PMID: 30857845

Clinical prediction guides

Mahmoud HT, Gaio G, Giordano M, Pizzuto A, Cuman M, Abdel Wahab MAK, Palladino MT, Russo MG, Santoro G
Catheter Cardiovasc Interv 2022 Jun;99(7):2043-2053. Epub 2022 Apr 14 doi: 10.1002/ccd.30191. PMID: 35420259
Nakamura Y, Sohara H, Ihara M
Heart Vessels 2022 Aug;37(8):1418-1424. Epub 2022 Feb 21 doi: 10.1007/s00380-022-02039-6. PMID: 35188586
Callahan CP, Jegatheeswaran A, Barron DJ, Husain SA, Fuller S, Overman DM, McCrindle BW; Congenital Heart Surgeons' Society Atrioventricular Septal Defect Working Group
J Thorac Cardiovasc Surg 2022 Mar;163(3):1142-1152.e6. Epub 2021 Sep 8 doi: 10.1016/j.jtcvs.2021.06.067. PMID: 34627603
Puga L, Teixeira R, Paiva L, Ribeiro JM, Gameiro J, Sousa JP, Costa M, Gonçalves L
Int J Cardiovasc Imaging 2021 Aug;37(8):2359-2368. Epub 2021 Mar 14 doi: 10.1007/s10554-021-02212-4. PMID: 33715110
Eden M, Leeb L, Frey N, Rosenberg M
Eur J Clin Invest 2020 Oct;50(10):e13295. Epub 2020 Jun 22 doi: 10.1111/eci.13295. PMID: 32474906

Recent systematic reviews

Baroutidou A, Arvanitaki A, Farmakis IT, Patsiou V, Giannopoulos A, Efthimiadis G, Ziakas A, Giannakoulas G
Heart 2023 Nov 10;109(23):1741-1750. doi: 10.1136/heartjnl-2023-322529. PMID: 37380331Free PMC Article
Vishwanath V, Akseer S, Frankfurter C, Reza S, Farrell A, Horlick E, Abrahamyan L
Arch Cardiovasc Dis 2022 Dec;115(12):664-674. Epub 2022 Oct 22 doi: 10.1016/j.acvd.2022.09.002. PMID: 36336619
Wu SJ, Fan YF, Chien CY
Asian J Surg 2022 Jan;45(1):62-67. Epub 2021 Jul 1 doi: 10.1016/j.asjsur.2021.06.021. PMID: 34217557
Heaton JN, Okoh AK, Suh S, Ozturk E, Salemi A, Waxman S, Tayal R
Cardiovasc Revasc Med 2022 Apr;37:52-60. Epub 2021 Jun 17 doi: 10.1016/j.carrev.2021.06.002. PMID: 34183276Free PMC Article
Buca DIP, Khalil A, Rizzo G, Familiari A, Di Giovanni S, Liberati M, Murgano D, Ricciardulli A, Fanfani F, Scambia G, D'Antonio F
Ultrasound Obstet Gynecol 2018 Mar;51(3):323-330. doi: 10.1002/uog.17546. PMID: 28603940

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...