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Atrial septal dilatation

MedGen UID:
1384602
Concept ID:
C4476553
Anatomical Abnormality
Synonym: Atrial septal aneurysm
 
HPO: HP:0011995
Monarch Initiative: MONDO:0020438
Orphanet: ORPHA99107

Definition

A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography. [from HPO]

Conditions with this feature

Holt-Oram syndrome
MedGen UID:
120524
Concept ID:
C0265264
Disease or Syndrome
Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation.
Wrinkly skin syndrome
MedGen UID:
98030
Concept ID:
C0406587
Disease or Syndrome
ATP6V0A2-related cutis laxa is characterized by generalized cutis laxa, findings associated with generalized connective tissue disorder, developmental delays, and a variety of neurologic findings including abnormality on brain MRI. At birth, hypotonia, overfolded skin, and distinctive facial features are present and enlarged fontanelles are often observed. During childhood, the characteristic facial features and thick or coarse hair may become quite pronounced. The skin findings decrease with age, although easy bruising and Ehlers-Danlos-like scars have been described in some. In most (not all) affected individuals, cortical and cerebellar malformations are observed on brain MRI. Nearly all affected individuals have developmental delays, seizures, and neurologic regression.
Atrial septal defect 1
MedGen UID:
349495
Concept ID:
C1862389
Congenital Abnormality
Secundum atrial septal defect (ASD) is a common congenital heart malformation that occurs as an isolated anomaly in 10% of individuals with congenital heart disease. Uncorrected ASD can cause pulmonary overcirculation, right heart volume overload, and premature death (summary by Benson et al., 1998). Genetic Heterogeneity of Atrial Septal Defect The ASD1 locus has been mapped to chromosome 5p. Other forms of atrial septal defect that are associated with other congenital heart disease but no conduction defects or noncardiac abnormalities include ASD2 (607941), caused by mutation in the GATA4 gene (600576), and ASD4 (611363), caused by mutation in the TBX20 gene (606061). ASD3 (614089) and ASD5 (612794), in which atrial septal defect is not associated with other cardiac abnormalities, are caused by mutation in the MYH6 (160710) and ACTC1 (102540) genes, respectively. ASD6 (613087), in which atrial septal defect may be associated with aneurysm of the interatrial septum and cardiac arrhythmias, is caused by mutation in the TLL1 gene (606742). ASD7 (108900), in which ASD is often associated with atrioventricular conduction defects, is caused by mutation in the NKX2-5 gene (600584). ASD8 (614433), in which ASD may be associated with other cardiac anomalies, is caused by mutation in the CITED2 gene (602937). ASD9 (614475) is caused by mutation in the GATA6 gene (601656). Somatic mutations in the HAND1 gene (602406) have been identified in tissue samples from patients with ASDs.

Professional guidelines

PubMed

Li J, Li R, Cheng G, Lu C, Liu W, Sun D, Li X, Wang Z
J Int Med Res 2022 Nov;50(11):3000605221134468. doi: 10.1177/03000605221134468. PMID: 36345170Free PMC Article
Elzanaty AM, Patel N, Sabbagh E, Eltahawy EA
Curr Med Res Opin 2021 Mar;37(3):377-384. Epub 2021 Feb 8 doi: 10.1080/03007995.2021.1876648. PMID: 33460329
Yuan SM
Pediatr Neonatol 2017 Jun;58(3):211-215. Epub 2016 Nov 19 doi: 10.1016/j.pedneo.2016.08.004. PMID: 28017577

Recent clinical studies

Etiology

Ohya Y, Matsuo R, Sato N, Irie F, Nakamura K, Wakisaka Y, Ago T, Kamouchi M, Kitazono T; Investigators for Fukuoka Stroke Registry
PLoS One 2022;17(7):e0268481. Epub 2022 Jul 13 doi: 10.1371/journal.pone.0268481. PMID: 35830430Free PMC Article
Elzanaty AM, Patel N, Sabbagh E, Eltahawy EA
Curr Med Res Opin 2021 Mar;37(3):377-384. Epub 2021 Feb 8 doi: 10.1080/03007995.2021.1876648. PMID: 33460329
Khan JM, Rogers T, Eng MH, Lederman RJ, Greenbaum AB
Catheter Cardiovasc Interv 2018 May 1;91(6):1164-1170. Epub 2017 Sep 20 doi: 10.1002/ccd.27311. PMID: 28940991Free PMC Article
Niss O, Quinn CT, Lane A, Daily J, Khoury PR, Bakeer N, Kimball TR, Towbin JA, Malik P, Taylor MD
JACC Cardiovasc Imaging 2016 Mar;9(3):243-52. Epub 2016 Feb 17 doi: 10.1016/j.jcmg.2015.05.013. PMID: 26897687Free PMC Article
Pihkala J, Nykanen D, Freedom RM, Benson LN
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Diagnosis

Yuan SM
Pediatr Neonatol 2017 Jun;58(3):211-215. Epub 2016 Nov 19 doi: 10.1016/j.pedneo.2016.08.004. PMID: 28017577
Niss O, Quinn CT, Lane A, Daily J, Khoury PR, Bakeer N, Kimball TR, Towbin JA, Malik P, Taylor MD
JACC Cardiovasc Imaging 2016 Mar;9(3):243-52. Epub 2016 Feb 17 doi: 10.1016/j.jcmg.2015.05.013. PMID: 26897687Free PMC Article
Pihkala J, Nykanen D, Freedom RM, Benson LN
Pediatr Clin North Am 1999 Apr;46(2):441-64. doi: 10.1016/s0031-3955(05)70128-0. PMID: 10218085
Devereux RB, Perloff JK, Reichek N, Josephson ME
Circulation 1976 Jul;54(1):3-14. doi: 10.1161/01.cir.54.1.3. PMID: 776440
Scott RC
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Therapy

Elzanaty AM, Patel N, Sabbagh E, Eltahawy EA
Curr Med Res Opin 2021 Mar;37(3):377-384. Epub 2021 Feb 8 doi: 10.1080/03007995.2021.1876648. PMID: 33460329
Khan JM, Rogers T, Eng MH, Lederman RJ, Greenbaum AB
Catheter Cardiovasc Interv 2018 May 1;91(6):1164-1170. Epub 2017 Sep 20 doi: 10.1002/ccd.27311. PMID: 28940991Free PMC Article
Coppola G, La Greca C, Corrado E, Ajello L, Nogara A, Ciaramitaro G, Augugliaro S, Novo G, Novo S, Assennato P
Minerva Cardioangiol 2015 Apr;63(2):151-60. PMID: 25711837
Nakanishi T
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Radtke W, Lock J
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Prognosis

Jacquemart E, Bessière F, Combes N, Ladouceur M, Iserin L, Gardey K, Henaine R, Dulac A, Cohen S, Belli E, Jannot AS, Chevalier P, Ly R, Clavier S, Legendre A, Petit J, Maltret A, Di Filippo S, Hascoët S, Marijon E, Waldmann V
JACC Clin Electrophysiol 2022 Mar;8(3):331-340. Epub 2021 Oct 27 doi: 10.1016/j.jacep.2021.09.004. PMID: 35331427
Elzanaty AM, Patel N, Sabbagh E, Eltahawy EA
Curr Med Res Opin 2021 Mar;37(3):377-384. Epub 2021 Feb 8 doi: 10.1080/03007995.2021.1876648. PMID: 33460329
O'Brien B, Zafar H, De Freitas S, Sharif F
Int J Cardiol 2017 Apr 15;233:12-22. Epub 2017 Feb 4 doi: 10.1016/j.ijcard.2017.02.009. PMID: 28202256
Niss O, Quinn CT, Lane A, Daily J, Khoury PR, Bakeer N, Kimball TR, Towbin JA, Malik P, Taylor MD
JACC Cardiovasc Imaging 2016 Mar;9(3):243-52. Epub 2016 Feb 17 doi: 10.1016/j.jcmg.2015.05.013. PMID: 26897687Free PMC Article
Warnes CA
Circulation 2006 Dec 12;114(24):2699-709. doi: 10.1161/CIRCULATIONAHA.105.592352. PMID: 17159076

Clinical prediction guides

Pommier T, Lafont A, Didier R, Garnier L, Duloquin G, Meloux A, Sagnard A, Graber M, Dogon G, Laurent G, Vergely C, Béjot Y, Guenancia C
Rev Neurol (Paris) 2024 Jan-Feb;180(1-2):33-41. Epub 2023 Sep 28 doi: 10.1016/j.neurol.2023.05.007. PMID: 37777437
Ohya Y, Matsuo R, Sato N, Irie F, Nakamura K, Wakisaka Y, Ago T, Kamouchi M, Kitazono T; Investigators for Fukuoka Stroke Registry
PLoS One 2022;17(7):e0268481. Epub 2022 Jul 13 doi: 10.1371/journal.pone.0268481. PMID: 35830430Free PMC Article
Elzanaty AM, Patel N, Sabbagh E, Eltahawy EA
Curr Med Res Opin 2021 Mar;37(3):377-384. Epub 2021 Feb 8 doi: 10.1080/03007995.2021.1876648. PMID: 33460329
Niss O, Quinn CT, Lane A, Daily J, Khoury PR, Bakeer N, Kimball TR, Towbin JA, Malik P, Taylor MD
JACC Cardiovasc Imaging 2016 Mar;9(3):243-52. Epub 2016 Feb 17 doi: 10.1016/j.jcmg.2015.05.013. PMID: 26897687Free PMC Article
Coppola G, La Greca C, Corrado E, Ajello L, Nogara A, Ciaramitaro G, Augugliaro S, Novo G, Novo S, Assennato P
Minerva Cardioangiol 2015 Apr;63(2):151-60. PMID: 25711837

Recent systematic reviews

Møller Nielsen AK, Dehn AM, Hjortdal V, Larsen LA
Eur J Med Genet 2024 Apr;68:104920. Epub 2024 Feb 7 doi: 10.1016/j.ejmg.2024.104920. PMID: 38336121
Krassas A, Tzifa A, Boulia S, Iliadis K
J Invest Surg 2022 Jan;35(1):180-185. Epub 2020 Dec 2 doi: 10.1080/08941939.2020.1825883. PMID: 33263463

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