Atrial Septal Defect Sinus Venosus disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ATR019 MIFTS: 24	Atrial Septal Defect Sinus Venosus Categories: Cardiovascular diseases, Fetal diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Atrial Septal Defect Sinus Venosus

MalaCards integrated aliases for Atrial Septal Defect Sinus Venosus:

Name: Atrial Septal Defect Sinus Venosus ²⁰ ⁷¹

Atrial Septal Defect, Sinus Venosus Type ⁵⁸

Sinus Venosus Atrial Septal Defects ²⁰

Asd, Sinus Venosus Type ⁵⁸

Sinus Venosus Asd ²⁰

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

Congenital malformations of cardiac septa

Atrial septal defect

Orphanet: ⁵⁸

Rare cardiac malformations

Developmental anomalies during embryogenesis

External Ids:

MESH via Orphanet ⁴⁵ C548009

ICD10 via Orphanet ³³ Q21.1

UMLS via Orphanet ⁷² C0344730

Orphanet ⁵⁸ ORPHA99105

UMLS ⁷¹ C0344730

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Summaries for Atrial Septal Defect Sinus Venosus

MalaCards based summary : Atrial Septal Defect Sinus Venosus, also known as atrial septal defect, sinus venosus type, is related to heart septal defect and atrial heart septal defect. An important gene associated with Atrial Septal Defect Sinus Venosus is CITED2 (Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 2). Affiliated tissues include heart and lung, and related phenotypes are left-to-right shunt and fatigue

Wikipedia : ⁷⁴ A sinus venosus atrial septal defect is a type of atrial septal defect primarily associated with the... more...

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Related Diseases for Atrial Septal Defect Sinus Venosus

Diseases related to Atrial Septal Defect Sinus Venosus via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)

#	Related Disease	Score
1	heart septal defect	10.5
2	atrial heart septal defect	10.5
3	sinoatrial node disease	10.5
4	sick sinus syndrome	10.5
5	pulmonary edema	10.2
6	hemopericardium	10.2
7	pericardial effusion	10.2
8	congestive heart failure	10.2
9	pulmonary hypertension	10.1
10	constrictive pericarditis	10.1
11	pericarditis	10.1

Graphical network of the top 20 diseases related to Atrial Septal Defect Sinus Venosus:

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Symptoms & Phenotypes for Atrial Septal Defect Sinus Venosus

Human phenotypes related to Atrial Septal Defect Sinus Venosus:

⁵⁸ ³¹ (show all 28)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	left-to-right shunt ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0012382
2	fatigue ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012378
3	exertional dyspnea ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002875
4	anomalous pulmonary venous return ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010772
5	palpitations ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001962
6	exercise intolerance ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003546
7	systolic heart murmur ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0031664
8	paradoxical splitting of the second heart sound ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0031663
9	pulmonary arterial hypertension ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002092
10	atrial fibrillation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005110
11	right bundle branch block ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011712
12	tricuspid regurgitation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005180
13	first degree atrioventricular block ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011705
14	junctional ectopic tachycardia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011716
15	right ventricular dilatation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005133
16	atrial flutter ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0004749
17	premature atrial contractions ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006699
18	automatic atrial tachycardia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011700
19	congestive heart failure ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001635
20	stroke ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001297
21	thromboembolism ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001907
22	airway obstruction ³¹	very rare (1%)		HP:0006536
23	supraventricular arrhythmia ⁵⁸		Occasional (29-5%)
24	dyspnea ⁵⁸		Occasional (29-5%)
25	obstructive lung disease ⁵⁸		Very rare (<4-1%)
26	cardiac conduction abnormality ⁵⁸		Frequent (79-30%)
27	supraventricular tachycardia ⁵⁸		Occasional (29-5%)
28	atrial arrhythmia ⁵⁸		Occasional (29-5%)

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Drugs & Therapeutics for Atrial Septal Defect Sinus Venosus

Search Clinical Trials , NIH Clinical Center for Atrial Septal Defect Sinus Venosus

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Genetic Tests for Atrial Septal Defect Sinus Venosus

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Anatomical Context for Atrial Septal Defect Sinus Venosus

MalaCards organs/tissues related to Atrial Septal Defect Sinus Venosus:

⁴⁰

Heart, Lung

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Publications for Atrial Septal Defect Sinus Venosus

Articles related to Atrial Septal Defect Sinus Venosus:

(show all 30)

#	Title	Authors	PMID	Year
1	Evolution and Current Results of a Unified Strategy for Sinus Venosus Surgery. ⁶¹	Stephens EH...Backer CL	32437676	2020
2	Transcatheter Correction of Superior Sinus Venosus Atrial Septal Defects as an Alternative to Surgical Treatment. ⁶¹	Hansen JH...Rosenthal E	32192652	2020
3	Heart transplantation using a donor with partial anomalous pulmonary venous connection and atrial septal defect. ⁶¹	de Beco G...Poncelet AJ	28379508	2017
4	Persistent left superior vena cava in atrial septal defect sinus venosus type: diagnosis with saline contrast echocardiography-a case series. ⁶¹	Rio PP...Dinarti LK	28469854	2017
5	Sinus venosus atrial septal defect as a cause of palpitations and dyspnea in an adult: a diagnostic imaging challenge. ⁶¹	Donovan MS...Hulten EA	25705227	2015
6	The role of cardiac MRI in the diagnosis and management of sinus venosus atrial septal defect. ⁶¹	Ganigara M...Puranik R	24987269	2014
7	Individual risk factors and complexity associated with congenital heart disease in a pediatric medicaid cohort. ⁶¹	Shuler CO...Jerrell JM	23820317	2013
8	Inferior sinus venosus atrial septal defect. ⁶¹	Mittal SR	24482952	2013
9	Long-term results of the single-patch repair technique for sinus venosus atrial septal defects. ⁶¹	Temizkan V...Yilmaz AT	23625482	2013
10	MRI for detection of anomalous pulmonary venous drainage in patients with sinus venosus atrial septal defects. ⁶¹	Prompona M...Huber A	20686854	2011
11	Diagnostic accuracy of multidetector spiral computed tomography for preoperative assessment of sinus venosus atrial septal defects in children. ⁶¹	Amat F...Paul JF	21098509	2011
12	Diagnosis of inferior sinus venosus atrial septal defects using transthoracic three-dimensional echocardiography. ⁶¹	Chen CA...Wu MH	19828288	2010
13	Atypical atrial septal defects in children: noninvasive evaluation by cardiac MRI. ⁶¹	Beerbaum P...Sarikouch S	18787816	2008
14	Arrhythmias in congenital heart defects. ⁶¹	Kaldararova M...Vrsanska V	17685001	2007
15	Improved visualization of sinus venosus atrial septal defects in adults from the transthoracic approach. ⁶¹	Coon PD...Lang RM	16880105	2006
16	[The relationship between rhythm disturbances and incisions in adult sinus venosus atrial septal defects]. ⁶¹	Bingol H...Tatar H	14675879	2003
17	Outcome following repair of sinus venosus atrial septal defects in children. ⁶¹	Russell JL...Potts JE	12213746	2002
18	[The sinus venosus type of interatrial communication: its diagnosis by transesophageal echocardiography]. ⁶¹	Sousa L...Antunes AM	10221044	1999
19	Sinus venosus atrial septal defects: surgical follow-up. ⁶¹	Agrawal SK...Tampe D	9105808	1997
20	Echocardiographic imaging techniques with subcostal and right parasternal longitudinal views in detecting sinus venosus atrial septal defects. ⁶¹	McDonald RW...Sahn DJ	8849617	1996
21	Sinus venosus defects: unroofing of the right pulmonary veins--anatomic and echocardiographic findings and surgical treatment. ⁶¹	Van Praagh S...Van Praagh R	8037105	1994
22	Sinus venosus atrial septal defect associated with vein of Galen malformations: report of two cases. ⁶¹	Friedman DM...Berenstein A	8115275	1994
23	[Transthoracic and transesophageal echocardiography in the pre- and postoperative assessment of interatrial communication]. ⁶¹	San Roman JA...Sanchez-Harguindey L	8134694	1993
24	Transoesophageal echocardiographic assessment of primum, secundum and sinus venosus atrial septal defects. ⁶¹	Gnanapragasam JP...Pollock JC	1869325	1991
25	Is routine preoperative cardiac catheterization necessary before repair of secundum and sinus venosus atrial septal defects? ⁶¹	Freed MD...Castaneda AR	6736474	1984
26	Identification of atrial septal defects by cross-sectional contrast echocardiography. ⁶¹	Bourdillon PD...Rickards AF	7426201	1980
27	Atrial septal defect (sinus venosus type) in a dog. ⁶¹	Jeraj K...McGrath C	7451304	1980
28	Two-dimensional echocardiographic findings in atrial septal defect. ⁶¹	Lieppe W...Kisslo JA	884800	1977
29	Operative repair of atrial septal defect without cardiac catheterization. ⁶¹	Neal WA...Anderson RC	1111680	1975
30	[Posterior "atrial septal defect", "high atrial septal defect", "sinus venosus defect"]. ⁶¹	KREMER K...ROTTHOFF F	13754236	1961

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Genes for Atrial Septal Defect Sinus Venosus

Genes related to Atrial Septal Defect Sinus Venosus (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CITED2	Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 2	Protein Coding	350	Causative germline mutation ⁵⁸

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Variations for Atrial Septal Defect Sinus Venosus

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Expression for Atrial Septal Defect Sinus Venosus

Search GEO for disease gene expression data for Atrial Septal Defect Sinus Venosus.

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Pathways for Atrial Septal Defect Sinus Venosus

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GO Terms for Atrial Septal Defect Sinus Venosus

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Sources for Atrial Septal Defect Sinus Venosus

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