U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Heart murmur

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

Definition

An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart. [from HPO]

Conditions with this feature

Chromosome 9p deletion syndrome
MedGen UID:
167073
Concept ID:
C0795830
Disease or Syndrome
A rare chromosomal anomaly with characteristics of psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.
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).
Yunis-Varon syndrome
MedGen UID:
341818
Concept ID:
C1857663
Disease or Syndrome
Yunis-Varon syndrome (YVS) is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).
Mucolipidosis type II
MedGen UID:
435914
Concept ID:
C2673377
Disease or Syndrome
GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth 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. All children 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. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß.
Peroxisome biogenesis disorder 5A (Zellweger)
MedGen UID:
766854
Concept ID:
C3553940
Disease or Syndrome
The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see 214100.
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
MedGen UID:
815773
Concept ID:
C3809443
Disease or Syndrome
Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
MedGen UID:
862975
Concept ID:
C4014538
Disease or Syndrome
ADNP-related disorder is characterized by hypotonia, severe speech and motor delay, mild-to-severe intellectual disability, and characteristic facial features (prominent forehead, high anterior hairline, wide and depressed nasal bridge, and short nose with full, upturned nasal tip) based on a cohort of 78 individuals. Features of autism spectrum disorder are common (stereotypic behavior, impaired social interaction). Other common findings include additional behavioral problems, sleep disturbance, brain abnormalities, seizures, feeding issues, gastrointestinal problems, visual dysfunction (hypermetropia, strabismus, cortical visual impairment), musculoskeletal anomalies, endocrine issues including short stature and hormonal deficiencies, cardiac and urinary tract anomalies, and hearing loss.
Intellectual disability, autosomal dominant 45
MedGen UID:
1616472
Concept ID:
C4539848
Mental or Behavioral Dysfunction
Intellectual developmental disorder with impaired language and dysmorphic facies
MedGen UID:
1684804
Concept ID:
C5231444
Disease or Syndrome
Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) is an autosomal dominant disorder characterized by global developmental delay apparent from infancy, impaired language development, and dysmorphic facial features, including hypertelorism, epicanthal folds, and abnormal palpebral fissures. Some patients may have additional findings, including feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies (summary by Balak et al., 2019).
Coffin-Siris syndrome 12
MedGen UID:
1782096
Concept ID:
C5444111
Disease or Syndrome
Coffin-Siris syndrome-12 (CSS12) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Affected individuals may have hypotonia and poor feeding in infancy. There are variable dysmorphic facial features, although most patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms of CSS (Barish et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
Developmental delay, impaired speech, and behavioral abnormalities
MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).
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

Ford B, Lara S, Park J
Am Fam Physician 2022 Mar 1;105(3):250-261. PMID: 35289571
Steeds RP, Potter A, Mangat N, Fröhlich M, Deutsch C, Bramlage P, Thoenes M
Open Heart 2021 May;8(1) doi: 10.1136/openhrt-2021-001640. PMID: 34021069Free PMC Article
Chen RS, Bivens MJ, Grossman SA
Emerg Med Clin North Am 2011 Nov;29(4):801-10, vii. doi: 10.1016/j.emc.2011.08.001. PMID: 22040708

Curated

UK NICE Guideline NG208, Heart valve disease presenting in adults: investigation and management, 2021

Recent clinical studies

Etiology

Dursun H, Türkmenoğlu Y, Aygun TS, Kacar A, Umman N, Irdem A
Blood Press Monit 2022 Feb 1;27(1):9-13. doi: 10.1097/MBP.0000000000000557. PMID: 34992203
Sun R, Liu M, Lu L, Zheng Y, Zhang P
Cell Biochem Biophys 2015 Jul;72(3):857-60. doi: 10.1007/s12013-015-0551-6. PMID: 25638345
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
Moak JP, Kaski JP
Heart 2012 Jul;98(14):1044-54. Epub 2012 May 16 doi: 10.1136/heartjnl-2011-300531. PMID: 22591735
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article

Diagnosis

Butler NR, Courtney PA, Swegle J
Prim Care 2024 Mar;51(1):155-169. Epub 2023 Sep 14 doi: 10.1016/j.pop.2023.07.009. PMID: 38278569
Ford B, Lara S, Park J
Am Fam Physician 2022 Mar 1;105(3):250-261. PMID: 35289571
Garcia RU, Peddy SB
Prim Care 2018 Mar;45(1):143-154. doi: 10.1016/j.pop.2017.10.005. PMID: 29406940
Yuan SM
Braz J Cardiovasc Surg 2016 May-Jun;31(3):252-255. doi: 10.5935/1678-9741.20160026. PMID: 27737409Free PMC Article
Sun R, Liu M, Lu L, Zheng Y, Zhang P
Cell Biochem Biophys 2015 Jul;72(3):857-60. doi: 10.1007/s12013-015-0551-6. PMID: 25638345

Therapy

Butler NR, Courtney PA, Swegle J
Prim Care 2024 Mar;51(1):155-169. Epub 2023 Sep 14 doi: 10.1016/j.pop.2023.07.009. PMID: 38278569
Begic E, Gurbeta Pokvic L, Begic Z, Begic N, Dedic M, Mrsic D, Jamakovic M, Vila N, Badnjevic A
Psychiatr Danub 2021 Dec;33(Suppl 13):236-246. PMID: 35150491
Yuan SM
Braz J Cardiovasc Surg 2016 May-Jun;31(3):252-255. doi: 10.5935/1678-9741.20160026. PMID: 27737409Free 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
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

Prognosis

Saeed S, Mohamed Ali A, Wasim D, Risnes I, Urheim S
Curr Probl Cardiol 2023 Feb;48(2):101479. Epub 2022 Nov 3 doi: 10.1016/j.cpcardiol.2022.101479. PMID: 36336114
Yuan SM
Braz J Cardiovasc Surg 2016 May-Jun;31(3):252-255. doi: 10.5935/1678-9741.20160026. PMID: 27737409Free PMC Article
Moak JP, Kaski JP
Heart 2012 Jul;98(14):1044-54. Epub 2012 May 16 doi: 10.1136/heartjnl-2011-300531. PMID: 22591735
Wallis GA, Debich-Spicer D, Anderson RH
Orphanet J Rare Dis 2011 May 14;6:22. doi: 10.1186/1750-1172-6-22. PMID: 21569592Free PMC Article
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article

Clinical prediction guides

Elola A, Aramendi E, Oliveira J, Renna F, Coimbra MT, Reyna MA, Sameni R, Clifford GD, Rad AB
IEEE J Biomed Health Inform 2023 Aug;27(8):3856-3866. Epub 2023 Aug 8 doi: 10.1109/JBHI.2023.3275039. PMID: 37163396Free PMC Article
Saeed S, Mohamed Ali A, Wasim D, Risnes I, Urheim S
Curr Probl Cardiol 2023 Feb;48(2):101479. Epub 2022 Nov 3 doi: 10.1016/j.cpcardiol.2022.101479. PMID: 36336114
Andersen S, Davidsen AH, Schirmer H, Melbye H, Spigt M, Aviles-Solis JC
Scand J Prim Health Care 2022 Dec;40(4):491-497. Epub 2023 Jan 4 doi: 10.1080/02813432.2022.2159204. PMID: 36598178Free PMC Article
Ahmad MS, Mir J, Ullah MO, Shahid MLUR, Syed MA
Australas Phys Eng Sci Med 2019 Sep;42(3):733-743. Epub 2019 Jul 16 doi: 10.1007/s13246-019-00778-x. PMID: 31313129
McKay R
Orphanet J Rare Dis 2007 Oct 8;2:41. doi: 10.1186/1750-1172-2-41. PMID: 17922908Free PMC Article

Recent systematic reviews

Urina-Jassir M, Jaimes-Reyes MA, Martinez-Vernaza S, Quiroga-Vergara C, Urina-Triana M
Int J Infect Dis 2022 Apr;117:312-321. Epub 2022 Feb 15 doi: 10.1016/j.ijid.2022.02.022. PMID: 35181535
Vahabi A, Gül F, Garakhanova S, Sipahi H, Sipahi OR
J Infect Dev Ctries 2019 Feb 28;13(2):93-100. doi: 10.3855/jidc.10056. PMID: 32036343
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; and the GAMES Study Group
Medicine (Baltimore) 2015 Sep;94(39):e1562. doi: 10.1097/MD.0000000000001562. PMID: 26426629Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2021
      UK NICE Guideline NG208, Heart valve disease presenting in adults: investigation and management, 2021

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...