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Heart murmur

MedGen UID:
9171
Concept ID:
C0018808
Finding
Synonyms: Cardiac murmur; Cardiac murmurs; Heart murmurs
SNOMED CT: Finding of heart murmur (88610006); Observation of heart murmur (88610006); Heart murmur (88610006); Murmur (414786004); Heart murmur (421493004)
 
HPO: HP:0030148

Definition

A periodic humming or blowing sound heard on auscultation of the heart that can indicate the presence of cardiac disease; murmurs are the result of vibrations caused by the turbulent flow of blood in the heart or great vessels. Murmurs are characterized according to the area of generation (mitral, aortic, tricuspid, or pulmonary) and according to the period of the cycle (systolic or diastolic). [from NCI]

Conditions with this feature

Chromosome 9, monosomy 9p
MedGen UID:
167073
Concept ID:
C0795830
Disease or Syndrome
Partial deletion of the short arm of chromosome 9 with mental retardation, craniofacial anomalies, abnormal dermatoglyphics, short and webbed neck, heart murmurs, square nails, and other defects.
Seckel syndrome 2
MedGen UID:
338264
Concept ID:
C1847572
Disease or Syndrome
Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600).
I cell disease
MedGen UID:
435914
Concept ID:
C2673377
Disease or Syndrome
Mucolipidosis II (ML II, I-cell disease) is a slowly progressive inborn error of metabolism with clinical onset at birth and fatal outcome most often in early childhood. Postnatal growth is limited and often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Already in infancy skeletal radiographs reveal dysostosis multiplex. All children appear to have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death.

Recent clinical studies

Etiology

Lefort B, Cheyssac E, Soulé N, Poinsot J, Vaillant MC, Nassimi A, Chantepie A
Ann Fam Med 2017 Nov;15(6):523-528. doi: 10.1370/afm.2105. PMID: 29133490Free PMC Article
Kueh SH, Pasley T, Wheeler M, Pemberton J
Intern Med J 2017 Feb;47(2):199-205. doi: 10.1111/imj.13331. PMID: 27860144
Al-Ammouri I, Ayoub F, Dababneh R
Cardiol Young 2016 Aug;26(6):1056-9. Epub 2015 Sep 10 doi: 10.1017/S1047951115001705. PMID: 26354008
Bårdsen T, Sørbye MH, Trønnes H, Greve G, Berg A
BMC Pediatr 2015 Nov 21;15:193. doi: 10.1186/s12887-015-0507-4. PMID: 26590070Free PMC Article
Kardasevic M, Kardasevic A
Med Arch 2014 Aug;68(4):282-4. Epub 2014 Jul 31 doi: 10.5455/medarh.2014.68.282-284. PMID: 25568554Free PMC Article

Diagnosis

Lefort B, Cheyssac E, Soulé N, Poinsot J, Vaillant MC, Nassimi A, Chantepie A
Ann Fam Med 2017 Nov;15(6):523-528. doi: 10.1370/afm.2105. PMID: 29133490Free PMC Article
Eslamizadeh G, Barati R
Artif Intell Med 2017 May;78:23-40. Epub 2017 May 13 doi: 10.1016/j.artmed.2017.05.005. PMID: 28764870
Bårdsen T, Sørbye MH, Trønnes H, Greve G, Berg A
BMC Pediatr 2015 Nov 21;15:193. doi: 10.1186/s12887-015-0507-4. PMID: 26590070Free PMC Article
Brunetti ND, Rosania S, D'Antuono C, D'Antuono A, De Gennaro L, Zuppa AA, Di Biase M
J Cardiovasc Med (Hagerstown) 2015 Aug;16(8):556-61. doi: 10.2459/JCM.0b013e3283649953. PMID: 26107992
Kardasevic M, Kardasevic A
Med Arch 2014 Aug;68(4):282-4. Epub 2014 Jul 31 doi: 10.5455/medarh.2014.68.282-284. PMID: 25568554Free PMC Article

Therapy

Brunetti ND, Rosania S, D'Antuono C, D'Antuono A, De Gennaro L, Zuppa AA, Di Biase M
J Cardiovasc Med (Hagerstown) 2015 Aug;16(8):556-61. doi: 10.2459/JCM.0b013e3283649953. PMID: 26107992
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
Mesihović-Dinarević S, Ibrahimović J, Hasanbegović E, Ićindić-Nakas E, Smajić A
Bosn J Basic Med Sci 2005 Aug;5(3):39-45. doi: 10.17305/bjbms.2005.3269. PMID: 16351580
Keren R, Tereschuk M, Luan X
Arch Pediatr Adolesc Med 2005 Apr;159(4):329-34. doi: 10.1001/archpedi.159.4.329. PMID: 15809384
Lee TH
Harv Heart Lett 2002 Jul;12(11):8. PMID: 12138047

Prognosis

Lefort B, Cheyssac E, Soulé N, Poinsot J, Vaillant MC, Nassimi A, Chantepie A
Ann Fam Med 2017 Nov;15(6):523-528. doi: 10.1370/afm.2105. PMID: 29133490Free PMC Article
Bårdsen T, Sørbye MH, Trønnes H, Greve G, Berg A
BMC Pediatr 2015 Nov 21;15:193. doi: 10.1186/s12887-015-0507-4. PMID: 26590070Free PMC Article
Brunetti ND, Rosania S, D'Antuono C, D'Antuono A, De Gennaro L, Zuppa AA, Di Biase M
J Cardiovasc Med (Hagerstown) 2015 Aug;16(8):556-61. doi: 10.2459/JCM.0b013e3283649953. PMID: 26107992
Iversen K, Nielsen OW, Kirk V, Bay M, Hassager C, Boesgaard S, Nielsen H
Am J Med Sci 2008 Jun;335(6):444-50. doi: 10.1097/MAJ.0b013e318157d3a2. PMID: 18552574
Ortiz P, Monivas V, Fuentes R, Toquero J
Heart 2005 Apr;91(4):532. doi: 10.1136/hrt.2004.039263. PMID: 15772223Free PMC Article

Clinical prediction guides

Lefort B, Cheyssac E, Soulé N, Poinsot J, Vaillant MC, Nassimi A, Chantepie A
Ann Fam Med 2017 Nov;15(6):523-528. doi: 10.1370/afm.2105. PMID: 29133490Free PMC Article
Horvath CM, Zbinden S, Ott SR, Brill AK
Chest 2016 Oct;150(4):e117-e120. doi: 10.1016/j.chest.2016.03.039. PMID: 27719828
Bårdsen T, Sørbye MH, Trønnes H, Greve G, Berg A
BMC Pediatr 2015 Nov 21;15:193. doi: 10.1186/s12887-015-0507-4. PMID: 26590070Free PMC Article
Brunetti ND, Rosania S, D'Antuono C, D'Antuono A, De Gennaro L, Zuppa AA, Di Biase M
J Cardiovasc Med (Hagerstown) 2015 Aug;16(8):556-61. doi: 10.2459/JCM.0b013e3283649953. PMID: 26107992
Keren R, Tereschuk M, Luan X
Arch Pediatr Adolesc Med 2005 Apr;159(4):329-34. doi: 10.1001/archpedi.159.4.329. PMID: 15809384

Recent systematic reviews

de Egea V, Muñoz P, Valerio M, de Alarcón A, Lepe JA, Miró JM, Gálvez-Acebal J, García-Pavía P, Navas E, Goenaga MA, Fariñas MC, Vázquez EG, Marín M, Bouza E; GAMES Study Group.
Medicine (Baltimore) 2015 Sep;94(39):e1562. doi: 10.1097/MD.0000000000001562. PMID: 26426629Free PMC Article

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