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Systolic heart murmur

MedGen UID:
115909
Concept ID:
C0232257
Finding
Synonyms: Murmur, Systolic; Murmurs, Systolic; Systolic Murmur; Systolic Murmurs
SNOMED CT: SM - Systolic murmur (31574009); Systolic murmur (31574009)
 
HPO: HP:0031664

Definition

A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2. [from HPO]

Conditions with this feature

Structural heart defects and renal anomalies syndrome
MedGen UID:
1387412
Concept ID:
C4479549
Disease or Syndrome
TWIST1-related craniosynostosis
MedGen UID:
1646646
Concept ID:
C4551902
Disease or Syndrome
Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis. Genetic Heterogeneity of Craniosynostosis Craniosynostosis-2 (CRS2; 604757) is caused by mutation in the MSX2 gene (123101) on chromosome 5q35. Craniosynostosis-3 (CRS3; 615314) is caused by mutation in the TCF12 gene (600480) on chromosome 15q21. Craniosynostosis-4 (CRS4; 600775) is caused by mutation in the ERF gene (611888) on chromosome 19q13. Susceptibility to craniosynostosis-5 (CRS5; 615529) is conferred by variation in the ALX4 gene (605420) on chromosome 11p11. Craniosynostosis-6 (CRS6; 616602) is caused by mutation in the ZIC1 gene (600470) on chromosome 3q24. Susceptibility to craniosynostosis-7 (CRS7; 617439) is conferred by variation in the SMAD6 gene (602931) on chromosome 15q22.
Liver disease, severe congenital
MedGen UID:
1823968
Concept ID:
C5774195
Disease or Syndrome
Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022).
Cardiac valvular dysplasia 2
MedGen UID:
1823999
Concept ID:
C5774226
Disease or Syndrome
Cardiac valvular dysplasia-2 (CVDP2) is characterized primarily by congenital stenosis and insufficiency of the semilunar valves, although mild insufficiency of the atrioventricular valves has been observed as well. Other features include subaortic stenosis and dilation of the ascending aorta and/or pulmonary artery in some patients (Wunnemann et al., 2020; Massadeh et al., 2020). For a discussion of genetic heterogeneity of CVDP, see CVDP1 (212093).

Professional guidelines

PubMed

Aronow WS
Hosp Pract (1995) 2013 Oct-Nov;41(4):66-77. doi: 10.3810/hp.2013.10.1082. PMID: 24145591
Frank JE, Jacobe KM
Am Fam Physician 2011 Oct 1;84(7):793-800. PMID: 22010618
Syamasundar Rao P
Indian J Pediatr 2005 Jun;72(6):503-12. doi: 10.1007/BF02724429. PMID: 15985740

Recent clinical studies

Etiology

Hisatomi K, Hashizume K, Tanigawa K, Miura T, Matsukuma S, Yokose S, Sumi M, Eishi K
Gen Thorac Cardiovasc Surg 2016 Feb;64(2):105-8. Epub 2014 Apr 17 doi: 10.1007/s11748-014-0399-5. PMID: 24740639
So BH, Watanabe T, Shimizu M, Yanagisawa M
Biol Neonate 1996;69(4):243-8. doi: 10.1159/000244317. PMID: 8724652
Busch U, Kampmann C, Meyer R, Sandring KH, Hausdorf G, Konertz W
Tex Heart Inst J 1995;22(3):261-4. PMID: 7580366Free PMC Article
Johnston JH
J R Army Med Corps 1990 Jun;136(2):102-4. doi: 10.1136/jramc-136-02-08. PMID: 2388184

Diagnosis

Alemad SA, Halboup AM, Aladeeb K, Al-Saleh M, Al-Kufiley N
J Med Case Rep 2021 Sep 11;15(1):450. doi: 10.1186/s13256-021-03069-w. PMID: 34507614Free PMC Article
Nfonsam L, Huang L, Carson N, McGowan-Jordan J, Beaulieu Bergeron M, Goobie S, Conacher S, McCarty D, Benson L, Hewson S, Zahavich L, Sinclair-Bourque E, Smith A, Potter R, Ghani M, Bronicki L, Jarinova O
Mol Genet Genomic Med 2020 Jan;8(1):e951. Epub 2019 Sep 30 doi: 10.1002/mgg3.951. PMID: 31568709Free PMC Article
Noronha N, Rosa Alexandre A, Cavaca Santos J, Rodrigues F
BMJ Case Rep 2015 Sep 3;2015 doi: 10.1136/bcr-2015-210619. PMID: 26338243Free PMC Article
Ahlstrom C, Hult P, Rask P, Karlsson JE, Nylander E, Dahlström U, Ask P
Ann Biomed Eng 2006 Nov;34(11):1666-77. Epub 2006 Oct 4 doi: 10.1007/s10439-006-9187-4. PMID: 17019618
Mukerji B, Alpert MA, Mukerji V
Am Fam Physician 1989 Sep;40(3):169-75. PMID: 2672749

Therapy

Umemoto D, Hara S, Nishioka H
J Infect Chemother 2024 Jul;30(7):655-658. Epub 2023 Dec 22 doi: 10.1016/j.jiac.2023.12.009. PMID: 38141719
Noronha N, Rosa Alexandre A, Cavaca Santos J, Rodrigues F
BMJ Case Rep 2015 Sep 3;2015 doi: 10.1136/bcr-2015-210619. PMID: 26338243Free PMC Article
Fujii N, Tsuchihashi K, Nishida J, Funayama N, Takagi S, Miura T
Cardiovasc Interv Ther 2013 Oct;28(4):383-7. Epub 2013 Apr 2 doi: 10.1007/s12928-013-0174-z. PMID: 23546939
Ahlstrom C, Hult P, Rask P, Karlsson JE, Nylander E, Dahlström U, Ask P
Ann Biomed Eng 2006 Nov;34(11):1666-77. Epub 2006 Oct 4 doi: 10.1007/s10439-006-9187-4. PMID: 17019618
Johnston JH
J R Army Med Corps 1990 Jun;136(2):102-4. doi: 10.1136/jramc-136-02-08. PMID: 2388184

Prognosis

Umemoto D, Hara S, Nishioka H
J Infect Chemother 2024 Jul;30(7):655-658. Epub 2023 Dec 22 doi: 10.1016/j.jiac.2023.12.009. PMID: 38141719
Tsuda E, Negishi J, Miike H, Kurosaki K
Cardiol Young 2019 Jan;29(1):30-35. Epub 2018 Oct 26 doi: 10.1017/S1047951118001646. PMID: 30360765
Hisatomi K, Hashizume K, Tanigawa K, Miura T, Matsukuma S, Yokose S, Sumi M, Eishi K
Gen Thorac Cardiovasc Surg 2016 Feb;64(2):105-8. Epub 2014 Apr 17 doi: 10.1007/s11748-014-0399-5. PMID: 24740639
Santos-Silva R, Corujeira S, Almeida AF, Granja S, Moura C, Azevedo I, Leão M, Maia A
Sao Paulo Med J 2011;129(4):267-70. doi: 10.1590/s1516-31802011000400011. PMID: 21971903Free PMC Article
Agac MT, Acar Z, Turan T, Karadag B, Kul S, Erkan H
Eur J Echocardiogr 2009 Jun;10(4):588-9. Epub 2009 Apr 2 doi: 10.1093/ejechocard/jep029. PMID: 19342388

Clinical prediction guides

Umemoto D, Hara S, Nishioka H
J Infect Chemother 2024 Jul;30(7):655-658. Epub 2023 Dec 22 doi: 10.1016/j.jiac.2023.12.009. PMID: 38141719
Rojek A, Wikiera B, Noczynska A, Niedziela M
J Clin Res Pediatr Endocrinol 2023 Aug 23;15(3):312-317. Epub 2021 Dec 30 doi: 10.4274/jcrpe.galenos.2021.2021.0256. PMID: 34965699Free PMC Article
Fujii N, Tsuchihashi K, Nishida J, Funayama N, Takagi S, Miura T
Cardiovasc Interv Ther 2013 Oct;28(4):383-7. Epub 2013 Apr 2 doi: 10.1007/s12928-013-0174-z. PMID: 23546939
Johnston JH
J R Army Med Corps 1990 Jun;136(2):102-4. doi: 10.1136/jramc-136-02-08. PMID: 2388184
Buonocore E, Acker JJ, Blake HA
AJR Am J Roentgenol 1976 Feb;126(2):336-43. doi: 10.2214/ajr.126.2.336. PMID: 175702

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