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Abnormal heart valve morphology

MedGen UID:
892837
Concept ID:
C0241654
Finding
Synonym: Valvular abnormalities
 
HPO: HP:0001654

Definition

Any structural abnormality of a cardiac valve. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormal heart valve morphology

Conditions with this feature

Mucopolysaccharidosis, MPS-II
MedGen UID:
7734
Concept ID:
C0026705
Disease or Syndrome
Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion heterozygous females manifest findings. Age of onset, disease severity, and rate of progression vary significantly among affected males. In those with early progressive disease, CNS involvement (manifest primarily by progressive cognitive deterioration), progressive airway disease, and cardiac disease usually result in death in the first or second decade of life. In those with slowly progressive disease, the CNS is not (or is minimally) affected, although the effect of GAG accumulation on other organ systems may be early progressive to the same degree as in those who have progressive cognitive decline. Survival into the early adult years with normal intelligence is common in the slowly progressing form of the disease. Additional findings in both forms of MPS II include: short stature; macrocephaly with or without communicating hydrocephalus; macroglossia; hoarse voice; conductive and sensorineural hearing loss; hepatosplenomegaly; dysostosis multiplex; spinal stenosis; and carpal tunnel syndrome.
Mucopolysaccharidosis type 7
MedGen UID:
43108
Concept ID:
C0085132
Disease or Syndrome
Mucopolysaccharidosis type VII (MPS7) is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.
Mucopolysaccharidosis, MPS-IV-A
MedGen UID:
43375
Concept ID:
C0086651
Disease or Syndrome
The phenotypic spectrum of mucopolysaccharidosis IVA (MPS IVA) is a continuum that ranges from a severe and rapidly progressive early-onset form to a slowly progressive later-onset form. Children with MPS IVA typically have no distinctive clinical findings at birth. The severe form is usually apparent between ages one and three years, often first manifesting as kyphoscoliosis, genu valgum (knock-knee), and pectus carinatum; the slowly progressive form may not become evident until late childhood or adolescence, often first manifesting as hip problems (pain, stiffness, and Legg Perthes disease). Progressive bone and joint involvement leads to short stature, and eventually to disabling pain and arthritis. Involvement of other organ systems can lead to significant morbidity, including respiratory compromise, obstructive sleep apnea, valvular heart disease, hearing impairment, visual impairment from corneal clouding, dental abnormalities, and hepatomegaly. Compression of the spinal cord is a common complication that results in neurologic impairment. Children with MPS IVA have normal intellectual abilities at the outset of the disease.
Infantile GM1 gangliosidosis
MedGen UID:
75665
Concept ID:
C0268271
Disease or Syndrome
GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). The phenotype of GM1 gangliosidosis constitutes a spectrum ranging from severe (infantile) to intermediate (late-infantile and juvenile) to mild (chronic/adult). Type I (infantile) GM1 gangliosidosis begins before age 12 months. Prenatal manifestations may include nonimmune hydrops fetalis, intrauterine growth restriction, and placental vacuolization; congenital dermal melanocytosis (Mongolian spots) may be observed. Macular cherry-red spot is detected on eye exam. Progressive central nervous system dysfunction leads to spasticity and rapid regression; blindness, deafness, decerebrate rigidity, seizures, feeding difficulties, and oral secretions are observed. Life expectancy is two to three years. Type II can be subdivided into the late-infantile (onset age 1-3 years) and juvenile (onset age 3-10 years) phenotypes. Central nervous system dysfunction manifests as progressive cognitive, motor, and speech decline as measured by psychometric testing. There may be mild corneal clouding, hepatosplenomegaly, and/or cardiomyopathy; the typical course is characterized by progressive neurologic decline, progressive skeletal disease in some individuals (including kyphosis and avascular necrosis of the femoral heads), and progressive feeding difficulties leading to aspiration risk. Type III begins in late childhood to the third decade with generalized dystonia leading to unsteady gait and speech disturbance followed by extrapyramidal signs including akinetic-rigid parkinsonism. Cardiomyopathy develops in some and skeletal involvement occurs in most. Intellectual impairment is common late in the disease with prognosis directly related to the degree of neurologic impairment. MPS IVB is characterized by skeletal dysplasia with specific findings of axial and appendicular dysostosis multiplex, short stature (below 15th centile in adults), kyphoscoliosis, coxa/genu valga, joint laxity, platyspondyly, and odontoid hypoplasia. First signs and symptoms may be apparent at birth. Bony involvement is progressive, with more than 84% of adults requiring ambulation aids; life span does not appear to be limited. Corneal clouding is detected in some individuals and cardiac valvular disease may develop.

Professional guidelines

PubMed

Moncla LM, Briend M, Bossé Y, Mathieu P
Nat Rev Cardiol 2023 Aug;20(8):546-559. Epub 2023 Feb 24 doi: 10.1038/s41569-023-00845-7. PMID: 36829083
Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, Delgado V, Abbara S, Lansac E, Prakash SK, Bissell MM, Popescu BA, Hope MD, Sitges M, Thourani VH, Pibarot P, Chandrasekaran K, Lancellotti P, Borger MA, Forrest JK, Webb J, Milewicz DM, Makkar R, Leon MB, Sanders SP, Markl M, Ferrari VA, Roberts WC, Song JK, Blanke P, White CS, Siu S, Svensson LG, Braverman AC, Bavaria J, Sundt TM, El Khoury G, De Paulis R, Enriquez-Sarano M, Bax JJ, Otto CM, Schäfers HJ
J Thorac Cardiovasc Surg 2021 Sep;162(3):e383-e414. Epub 2021 Jul 22 doi: 10.1016/j.jtcvs.2021.06.019. PMID: 34304896
Linglart L, Gelb BD
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):73-80. Epub 2020 Feb 5 doi: 10.1002/ajmg.c.31765. PMID: 32022400Free PMC Article

Curated

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

Recent clinical studies

Etiology

Yetkin E, Cuglan B, Turhan H, Yalta K
Cardiovasc Pathol 2021 Jan-Feb;50:107277. Epub 2020 Aug 31 doi: 10.1016/j.carpath.2020.107277. PMID: 32882373
Bravo-Jaimes K, Prakash SK
Prog Cardiovasc Dis 2020 Jul-Aug;63(4):398-406. Epub 2020 Jun 27 doi: 10.1016/j.pcad.2020.06.005. PMID: 32599026Free PMC Article
Galian-Gay L, Rodríguez-Palomares J, Guala A, Michelena HI, Evangelista A
Prog Cardiovasc Dis 2020 Jul-Aug;63(4):442-451. Epub 2020 Jun 9 doi: 10.1016/j.pcad.2020.06.003. PMID: 32531300
Niaz T, Fernandes SM, Sanders SP, Michelena H, Hagler DJ
Prog Cardiovasc Dis 2020 Jul-Aug;63(4):425-433. Epub 2020 Jun 1 doi: 10.1016/j.pcad.2020.05.012. PMID: 32497585
Siu SC, Silversides CK
J Am Coll Cardiol 2010 Jun 22;55(25):2789-800. doi: 10.1016/j.jacc.2009.12.068. PMID: 20579534

Diagnosis

Pan J
Cardiology 2022;147(2):207-215. Epub 2021 Dec 29 doi: 10.1159/000521623. PMID: 34965530
Bravo-Jaimes K, Prakash SK
Prog Cardiovasc Dis 2020 Jul-Aug;63(4):398-406. Epub 2020 Jun 27 doi: 10.1016/j.pcad.2020.06.005. PMID: 32599026Free PMC Article
Bennett S, Thamman R, Griffiths T, Oxley C, Khan JN, Phan T, Patwala A, Heatlie G, Kwok CS
Echocardiography 2019 Aug;36(8):1549-1558. Epub 2019 Aug 5 doi: 10.1111/echo.14437. PMID: 31385360
Qureshi MY, Sommer RJ, Cabalka AK
JACC Cardiovasc Imaging 2019 Apr;12(4):637-651. doi: 10.1016/j.jcmg.2018.10.036. PMID: 30947906
Stulak JM, Mora BN, Said SM, Schaff HV, Dearani JA
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2016;19(1):82-9. doi: 10.1053/j.pcsu.2015.12.003. PMID: 27060049

Therapy

Xiong TY, Ali WB, Feng Y, Hayashida K, Jilaihawi H, Latib A, Lee MK, Leon MB, Makkar RR, Modine T, Naber C, Peng Y, Piazza N, Reardon MJ, Redwood S, Seth A, Sondergaard L, Tay E, Tchetche D, Yin WH, Chen M, Prendergast B, Mylotte D
Nat Rev Cardiol 2023 Jan;20(1):52-67. Epub 2022 Jun 20 doi: 10.1038/s41569-022-00734-5. PMID: 35726019
Holst KA, Connolly HM, Dearani JA
Methodist Debakey Cardiovasc J 2019 Apr-Jun;15(2):138-144. doi: 10.14797/mdcj-15-2-138. PMID: 31384377Free PMC Article
Kumar TKS, Boston US, Knott-Craig CJ
Semin Thorac Cardiovasc Surg 2017 Autumn;29(3):331-337. Epub 2017 Sep 25 doi: 10.1053/j.semtcvs.2017.09.006. PMID: 28958645
Stulak JM, Mora BN, Said SM, Schaff HV, Dearani JA
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2016;19(1):82-9. doi: 10.1053/j.pcsu.2015.12.003. PMID: 27060049
Schäfers HJ, Raddatz A, Schmied W, Takahashi H, Miura Y, Kunihara T, Aicher D
J Thorac Cardiovasc Surg 2015 Feb;149(2 Suppl):S30-6. Epub 2014 Sep 18 doi: 10.1016/j.jtcvs.2014.09.048. PMID: 25439784

Prognosis

Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, Delgado V, Abbara S, Lansac E, Prakash SK, Bissell MM, Popescu BA, Hope MD, Sitges M, Thourani VH, Pibarot P, Chandrasekaran K, Lancellotti P, Borger MA, Forrest JK, Webb J, Milewicz DM, Makkar R, Leon MB, Sanders SP, Markl M, Ferrari VA, Roberts WC, Song JK, Blanke P, White CS, Siu S, Svensson LG, Braverman AC, Bavaria J, Sundt TM, El Khoury G, De Paulis R, Enriquez-Sarano M, Bax JJ, Otto CM, Schäfers HJ
J Thorac Cardiovasc Surg 2021 Sep;162(3):e383-e414. Epub 2021 Jul 22 doi: 10.1016/j.jtcvs.2021.06.019. PMID: 34304896
Bennett S, Thamman R, Griffiths T, Oxley C, Khan JN, Phan T, Patwala A, Heatlie G, Kwok CS
Echocardiography 2019 Aug;36(8):1549-1558. Epub 2019 Aug 5 doi: 10.1111/echo.14437. PMID: 31385360
Qureshi MY, Sommer RJ, Cabalka AK
JACC Cardiovasc Imaging 2019 Apr;12(4):637-651. doi: 10.1016/j.jcmg.2018.10.036. PMID: 30947906
Osovska N, Kuzminova N, Ovcharuk M, Serhiychuk O
Georgian Med News 2016 Jun;(255):66-77. PMID: 27441539
Siu SC, Silversides CK
J Am Coll Cardiol 2010 Jun 22;55(25):2789-800. doi: 10.1016/j.jacc.2009.12.068. PMID: 20579534

Clinical prediction guides

Xiong TY, Ali WB, Feng Y, Hayashida K, Jilaihawi H, Latib A, Lee MK, Leon MB, Makkar RR, Modine T, Naber C, Peng Y, Piazza N, Reardon MJ, Redwood S, Seth A, Sondergaard L, Tay E, Tchetche D, Yin WH, Chen M, Prendergast B, Mylotte D
Nat Rev Cardiol 2023 Jan;20(1):52-67. Epub 2022 Jun 20 doi: 10.1038/s41569-022-00734-5. PMID: 35726019
Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, Delgado V, Abbara S, Lansac E, Prakash SK, Bissell MM, Popescu BA, Hope MD, Sitges M, Thourani VH, Pibarot P, Chandrasekaran K, Lancellotti P, Borger MA, Forrest JK, Webb J, Milewicz DM, Makkar R, Leon MB, Sanders SP, Markl M, Ferrari VA, Roberts WC, Song JK, Blanke P, White CS, Siu S, Svensson LG, Braverman AC, Bavaria J, Sundt TM, El Khoury G, De Paulis R, Enriquez-Sarano M, Bax JJ, Otto CM, Schäfers HJ
J Thorac Cardiovasc Surg 2021 Sep;162(3):e383-e414. Epub 2021 Jul 22 doi: 10.1016/j.jtcvs.2021.06.019. PMID: 34304896
Yetkin E, Cuglan B, Turhan H, Yalta K
Cardiovasc Pathol 2021 Jan-Feb;50:107277. Epub 2020 Aug 31 doi: 10.1016/j.carpath.2020.107277. PMID: 32882373
Bennett S, Thamman R, Griffiths T, Oxley C, Khan JN, Phan T, Patwala A, Heatlie G, Kwok CS
Echocardiography 2019 Aug;36(8):1549-1558. Epub 2019 Aug 5 doi: 10.1111/echo.14437. PMID: 31385360
Holst KA, Connolly HM, Dearani JA
Methodist Debakey Cardiovasc J 2019 Apr-Jun;15(2):138-144. doi: 10.14797/mdcj-15-2-138. PMID: 31384377Free PMC Article

Recent systematic reviews

Bennett S, Thamman R, Griffiths T, Oxley C, Khan JN, Phan T, Patwala A, Heatlie G, Kwok CS
Echocardiography 2019 Aug;36(8):1549-1558. Epub 2019 Aug 5 doi: 10.1111/echo.14437. PMID: 31385360
Büchi A, Hoffmann M, Zbinden S, Atkinson A, Sendi P
Swiss Med Wkly 2018 Nov 5;148:w14675. Epub 2018 Nov 15 doi: 10.4414/smw.2018.14675. PMID: 30440064
Poggio P, Cavallotti L, Songia P, Di Minno A, Ambrosino P, Mammana L, Parolari A, Alamanni F, Tremoli E, Di Minno MN
J Am Heart Assoc 2016 May 18;5(5) doi: 10.1161/JAHA.116.003200. PMID: 27194004Free PMC Article
Suchá D, Symersky P, Tanis W, Mali WP, Leiner T, van Herwerden LA, Budde RP
Circ Cardiovasc Imaging 2015 Sep;8(9):e003703. doi: 10.1161/CIRCIMAGING.115.003703. PMID: 26353926
Abdulkareem N, Smelt J, Jahangiri M
Interact Cardiovasc Thorac Surg 2013 Sep;17(3):554-9. Epub 2013 May 31 doi: 10.1093/icvts/ivt196. PMID: 23728086Free PMC Article

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      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

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