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Abnormal atrial septum morphology

MedGen UID:
488868
Concept ID:
C0344722
Congenital Abnormality
Synonym: Abnormality of the atrial septum
SNOMED CT: Abnormality of atrial septum (253363004)
 
HPO: HP:0011994

Definition

An abnormality of the interatrial septum. [from HPO]

Conditions with this feature

Autosomal dominant Robinow syndrome 2
MedGen UID:
897039
Concept ID:
C4225363
Disease or Syndrome
Autosomal dominant Robinow syndrome (ADRS) is characterized by skeletal findings (short stature, mesomelic limb shortening predominantly of the upper limbs, and brachydactyly), genital abnormalities (in males: micropenis / webbed penis, hypoplastic scrotum, cryptorchidism; in females: hypoplastic clitoris and labia majora), dysmorphic facial features (widely spaced and prominent eyes, frontal bossing, anteverted nares, midface retrusion), dental abnormalities (including malocclusion, crowding, hypodontia, late eruption of permanent teeth), bilobed tongue, and occasional prenatal macrocephaly that persists postnatally. Less common findings include renal anomalies, radial head dislocation, vertebral abnormalities such as hemivertebrae and scoliosis, nail dysplasia, cardiac defects, cleft lip/palate, and (rarely) cognitive delay. When present, cardiac defects are a major cause of morbidity and mortality. A variant of Robinow syndrome, associated with osteosclerosis and caused by a heterozygous pathogenic variant in DVL1, is characterized by normal stature, persistent macrocephaly, increased bone mineral density with skull osteosclerosis, and hearing loss, in addition to the typical features described above.

Professional guidelines

PubMed

Li S, Luo G, Norwitz ER, Wang C, Ouyang S, Yao Y, Wen H, Chen C, Fu Q, Xia X, Bi J, Zhu J
J Perinatol 2013 Feb;33(2):98-102. Epub 2012 May 3 doi: 10.1038/jp.2012.56. PMID: 22555779
Donofrio MT, Bremer YA, Moskowitz WB
Am J Cardiol 2004 Nov 15;94(10):1348-51. doi: 10.1016/j.amjcard.2004.07.133. PMID: 15541266
Smallhorn JF
Echocardiography 2001 Jul;18(5):415-32. doi: 10.1046/j.1540-8175.2001.00415.x. PMID: 11466155

Recent clinical studies

Etiology

Scagliola R, Caponi D, Scaglione M
Trends Cardiovasc Med 2024 Oct;34(7):436-443. Epub 2023 Dec 27 doi: 10.1016/j.tcm.2023.12.007. PMID: 38158028
Friedman KG, Tworetzky W
Arch Cardiovasc Dis 2020 Feb;113(2):121-128. Epub 2020 Feb 26 doi: 10.1016/j.acvd.2019.06.007. PMID: 32113817
Santos Mateo JJ, Sabater Molina M, Gimeno Blanes JR
Med Clin (Barc) 2018 Jun 8;150(11):434-442. Epub 2017 Nov 14 doi: 10.1016/j.medcli.2017.09.013. PMID: 29150126
Homma S, Messé SR, Rundek T, Sun YP, Franke J, Davidson K, Sievert H, Sacco RL, Di Tullio MR
Nat Rev Dis Primers 2016 Jan 21;2:15086. doi: 10.1038/nrdp.2015.86. PMID: 27188965
Wong JM, Fisher M
Expert Rev Cardiovasc Ther 2016;14(1):1-3. Epub 2015 Oct 21 doi: 10.1586/14779072.2015.1100536. PMID: 26488338

Diagnosis

Scagliola R, Caponi D, Scaglione M
Trends Cardiovasc Med 2024 Oct;34(7):436-443. Epub 2023 Dec 27 doi: 10.1016/j.tcm.2023.12.007. PMID: 38158028
Santos Mateo JJ, Sabater Molina M, Gimeno Blanes JR
Med Clin (Barc) 2018 Jun 8;150(11):434-442. Epub 2017 Nov 14 doi: 10.1016/j.medcli.2017.09.013. PMID: 29150126
Homma S, Messé SR, Rundek T, Sun YP, Franke J, Davidson K, Sievert H, Sacco RL, Di Tullio MR
Nat Rev Dis Primers 2016 Jan 21;2:15086. doi: 10.1038/nrdp.2015.86. PMID: 27188965
Sharma D, Murki S, Pratap T, Vasikarla M
BMJ Case Rep 2014 May 19;2014 doi: 10.1136/bcr-2014-203923. PMID: 24842361Free PMC Article
Calabrò R, Limongelli G
Orphanet J Rare Dis 2006 Apr 5;1:8. doi: 10.1186/1750-1172-1-8. PMID: 16722604Free PMC Article

Therapy

Scagliola R, Caponi D, Scaglione M
Trends Cardiovasc Med 2024 Oct;34(7):436-443. Epub 2023 Dec 27 doi: 10.1016/j.tcm.2023.12.007. PMID: 38158028
Corno AF, Zhou Z, Uppu SC, Huang S, Marino B, Milewicz DM, Salazar JD
Pediatr Cardiol 2022 Oct;43(7):1471-1480. Epub 2022 Mar 15 doi: 10.1007/s00246-022-02870-8. PMID: 35290490
Friedman KG, Tworetzky W
Arch Cardiovasc Dis 2020 Feb;113(2):121-128. Epub 2020 Feb 26 doi: 10.1016/j.acvd.2019.06.007. PMID: 32113817
Santos Mateo JJ, Sabater Molina M, Gimeno Blanes JR
Med Clin (Barc) 2018 Jun 8;150(11):434-442. Epub 2017 Nov 14 doi: 10.1016/j.medcli.2017.09.013. PMID: 29150126
Dattilo PB, Kim MS, Carroll JD
Cardiol Clin 2013 Aug;31(3):401-15. doi: 10.1016/j.ccl.2013.05.002. PMID: 23931102

Prognosis

Scagliola R, Caponi D, Scaglione M
Trends Cardiovasc Med 2024 Oct;34(7):436-443. Epub 2023 Dec 27 doi: 10.1016/j.tcm.2023.12.007. PMID: 38158028
Aggeli C, Verveniotis A, Andrikopoulou E, Vavuranakis E, Toutouzas K, Tousoulis D
Int J Cardiovasc Imaging 2018 Dec;34(12):1849-1861. Epub 2018 Jun 28 doi: 10.1007/s10554-018-1406-1. PMID: 29956022
Herberg U, Berg C, Geipel A, Gembruch U, Breuer J
Cardiol Young 2014 Oct;24 Suppl 2:47-54. Epub 2014 Aug 27 doi: 10.1017/S104795111400122X. PMID: 25159557
Sharma D, Murki S, Pratap T, Vasikarla M
BMJ Case Rep 2014 May 19;2014 doi: 10.1136/bcr-2014-203923. PMID: 24842361Free PMC Article
Calabrò R, Limongelli G
Orphanet J Rare Dis 2006 Apr 5;1:8. doi: 10.1186/1750-1172-1-8. PMID: 16722604Free PMC Article

Clinical prediction guides

Scagliola R, Caponi D, Scaglione M
Trends Cardiovasc Med 2024 Oct;34(7):436-443. Epub 2023 Dec 27 doi: 10.1016/j.tcm.2023.12.007. PMID: 38158028
Kolte D, Palacios IF
Expert Rev Cardiovasc Ther 2021 Mar;19(3):211-220. Epub 2021 Feb 19 doi: 10.1080/14779072.2021.1878026. PMID: 33605829
Aggeli C, Verveniotis A, Andrikopoulou E, Vavuranakis E, Toutouzas K, Tousoulis D
Int J Cardiovasc Imaging 2018 Dec;34(12):1849-1861. Epub 2018 Jun 28 doi: 10.1007/s10554-018-1406-1. PMID: 29956022
Hołda MK, Hołda J, Koziej M, Piątek K, Klimek-Piotrowska W
Ann Anat 2018 May;217:24-28. Epub 2018 Feb 16 doi: 10.1016/j.aanat.2018.01.002. PMID: 29458135
Hołda MK, Koziej M, Hołda J, Piątek K, Tyrak K, Chołopiak W, Bolechała F, Walocha JA, Klimek-Piotrowska W
Int J Cardiol 2016 Oct 1;220:337-42. Epub 2016 Jun 28 doi: 10.1016/j.ijcard.2016.06.141. PMID: 27390952

Recent systematic reviews

Tian H, Sun C, Liu Y, Li Y, He Y, Wu Y, Wu B
BMC Cardiovasc Disord 2024 Oct 16;24(1):564. doi: 10.1186/s12872-024-04243-w. PMID: 39407145Free PMC Article
Amin A, Augustine M, Shafique MA, Mustafa MS, Mian ZR, Jaimes DCC, Gaudani A, Shaukat B, Kumar S, Aulakh SS, Jami E, Sharifa M, Ahuja K, Maslamani ANJ, Bhudia S
Curr Probl Cardiol 2024 Mar;49(3):102400. Epub 2024 Jan 15 doi: 10.1016/j.cpcardiol.2024.102400. PMID: 38232917
Hołda MK, Koziej M
Cerebrovasc Dis 2020;49(1):1-9. Epub 2020 Feb 25 doi: 10.1159/000506433. PMID: 32097931

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