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Mitral valve calcification

MedGen UID:
181575
Concept ID:
C0919718
Disease or Syndrome; Finding
Synonym: Calcific mitral stenosis
SNOMED CT: Calcification of mitral valve (473372009)
 
HPO: HP:0004382

Definition

Abnormal calcification of the mitral valve. [from HPO]

Conditions with this feature

Alkaptonuria
MedGen UID:
1413
Concept ID:
C0002066
Disease or Syndrome
Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are dark urine or urine that turns dark on standing, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Ochronosis generally occurs after age 30 years; arthritis often begins in the third decade. Other manifestations can include pigment in the sclera, ear cartilage, and skin of the hands; aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation; renal stones; prostate stones; and hypothyroidism.
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
MedGen UID:
341563
Concept ID:
C1856476
Disease or Syndrome
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.
Singleton-Merten syndrome 1
MedGen UID:
899946
Concept ID:
C4225427
Disease or Syndrome
Singleton-Merten syndrome (SGMRT) is an uncommon autosomal dominant disorder characterized by abnormalities of blood vessels, teeth, and bone. Calcifications of the aorta and aortic and mitral valves occur in childhood or puberty and can lead to early death. Dental findings include delayed primary tooth exfoliation and permanent tooth eruption, truncated tooth root formation, early-onset periodontal disease, and severe root and alveolar bone resorption associated with dysregulated mineralization, leading to tooth loss. Osseous features consist of osteoporosis, either generalized or limited to distal extremities, distal limb osteolysis, widened medullary cavities, and easy tearing of tendons from bone. Less common features are mild facial dysmorphism (high anterior hair line, broad forehead, smooth philtrum, thin upper vermilion border), generalized muscle weakness, psoriasis, early-onset glaucoma, and recurrent infections. The disorder manifests with variable inter- and intrafamilial phenotypes (summary by Rutsch et al., 2015). Genetic Heterogeneity of Singleton-Merten Syndrome An atypical form of Singleton-Merten syndrome (SGMRT2; 616298) is caused by mutation in the DDX58 gene (609631) on chromosome 9p21.
Mandibuloacral dysplasia progeroid syndrome
MedGen UID:
1741713
Concept ID:
C5436867
Disease or Syndrome
Mandibuloacral dysplasia progeroid syndrome (MDPS) is an autosomal recessive severe laminopathy-like disorder characterized by growth retardation, bone resorption, arterial calcification, renal glomerulosclerosis, and hypertension (Elouej et al., 2020).

Professional guidelines

PubMed

Kiani A, Mohamadi-Nori E, Vaisi-Raygani A, Tanhapour M, Elahi-Rad S, Bahrehmand F, Rahimi Z, Pourmotabbed T
Mol Biol Rep 2019 Oct;46(5):5225-5236. Epub 2019 Jul 29 doi: 10.1007/s11033-019-04979-1. PMID: 31359379

Recent clinical studies

Etiology

Masson W, Barbagelata L, Oberti P, Falconi M, Lavalle-Cobo A, Corral P, Nogueira JP
Nutr Metab Cardiovasc Dis 2023 May;33(5):925-933. Epub 2023 Feb 16 doi: 10.1016/j.numecd.2023.01.025. PMID: 36890070
Li B, Hu X, Pan H, Xiao Y, Dong J, Bao Y, Fang M
Bratisl Lek Listy 2022;123(7):523-527. doi: 10.4149/BLL_2022_084. PMID: 35907060
Obisesan OH, Kou M, Wang FM, Boakye E, Honda Y, Uddin SMI, Dzaye O, Osei AD, Orimoloye OA, Howard-Claudio CM, Coresh J, Blumenthal RS, Hoogeveen RC, Budoff MJ, Matsushita K, Ballantyne CM, Blaha MJ
J Am Heart Assoc 2022 Jun 7;11(11):e024870. Epub 2022 Jun 3 doi: 10.1161/JAHA.121.024870. PMID: 35656990Free PMC Article
Bai J, Zhang X, Zhang A, Zhang Y, Ren K, Ren Z, Zhao C, Wang Q, Cao N
BMC Nephrol 2022 Jan 22;23(1):43. doi: 10.1186/s12882-022-02670-5. PMID: 35065601Free PMC Article
Bagaev E, Ali A, Saha S, Sadoni S, Orban M, Naebauer M, Mehilli J, Massberg S, Oberbach A, Hagl C
Medicina (Kaunas) 2022 Jan 7;58(1) doi: 10.3390/medicina58010093. PMID: 35056401Free PMC Article

Diagnosis

Li B, Hu X, Pan H, Xiao Y, Dong J, Bao Y, Fang M
Bratisl Lek Listy 2022;123(7):523-527. doi: 10.4149/BLL_2022_084. PMID: 35907060
Sun W, Sun M, Zhang M, Liu Y, Lin X, Zhao S, Ma L
Hemodial Int 2015 Apr;19(2):270-8. Epub 2014 Nov 6 doi: 10.1111/hdi.12236. PMID: 25377787
Ikee R, Honda K, Ishioka K, Oka M, Maesato K, Moriya H, Hidaka S, Ohtake T, Kobayashi S
Hypertens Res 2010 Jun;33(6):622-6. Epub 2010 Apr 9 doi: 10.1038/hr.2010.44. PMID: 20379193
Chopra P, Gulwani H
Indian J Pathol Microbiol 2007 Oct;50(4):685-97. PMID: 18306530
Maher ER, Young G, Smyth-Walsh B, Pugh S, Curtis JR
Lancet 1987 Oct 17;2(8564):875-7. doi: 10.1016/s0140-6736(87)91370-5. PMID: 2889080

Therapy

Selvan K, Sampathkumar K, Sampath D, Rajiv A
Clin Nephrol 2022 Dec;98(6):267-273. doi: 10.5414/CN110903. PMID: 36149025
Di Lullo L, Tripepi G, Ronco C, D'Arrigo G, Barbera V, Russo D, Di Iorio BR, Uguccioni M, Paoletti E, Ravera M, Fusaro M, Bellasi A
Int J Cardiol 2019 Mar 1;278:243-249. Epub 2018 Nov 29 doi: 10.1016/j.ijcard.2018.11.119. PMID: 30538058
Sun W, Sun M, Zhang M, Liu Y, Lin X, Zhao S, Ma L
Hemodial Int 2015 Apr;19(2):270-8. Epub 2014 Nov 6 doi: 10.1111/hdi.12236. PMID: 25377787
Ikee R, Honda K, Ishioka K, Oka M, Maesato K, Moriya H, Hidaka S, Ohtake T, Kobayashi S
Hypertens Res 2010 Jun;33(6):622-6. Epub 2010 Apr 9 doi: 10.1038/hr.2010.44. PMID: 20379193
Maher ER, Young G, Smyth-Walsh B, Pugh S, Curtis JR
Lancet 1987 Oct 17;2(8564):875-7. doi: 10.1016/s0140-6736(87)91370-5. PMID: 2889080

Prognosis

Wang J, Xiao J, Wang R, Wang D
PeerJ 2023;11:e15569. Epub 2023 Jun 30 doi: 10.7717/peerj.15569. PMID: 37404480Free PMC Article
Huang XM, Zhang Y, Du M, Gu LQ, Fu HL, Yu F, Xu L, Li JJ, Wang Y, Sun XF
Cardiorenal Med 2023;13(1):38-45. Epub 2023 Feb 1 doi: 10.1159/000529136. PMID: 36724747
Li B, Hu X, Pan H, Xiao Y, Dong J, Bao Y, Fang M
Bratisl Lek Listy 2022;123(7):523-527. doi: 10.4149/BLL_2022_084. PMID: 35907060
Williams MC, Massera D, Moss AJ, Bing R, Bularga A, Adamson PD, Hunter A, Alam S, Shah ASV, Pawade T, Roditi G, van Beek EJR, Nicol ED, Newby DE, Dweck MR
Eur Heart J Cardiovasc Imaging 2021 Feb 22;22(3):262-270. doi: 10.1093/ehjci/jeaa263. PMID: 33306104Free PMC Article
Di Lullo L, Tripepi G, Ronco C, D'Arrigo G, Barbera V, Russo D, Di Iorio BR, Uguccioni M, Paoletti E, Ravera M, Fusaro M, Bellasi A
Int J Cardiol 2019 Mar 1;278:243-249. Epub 2018 Nov 29 doi: 10.1016/j.ijcard.2018.11.119. PMID: 30538058

Clinical prediction guides

Zhao K, Zhang L, Wang L, Zeng J, Zhang Y, Xie X
Br J Radiol 2023 Feb;96(1142):20211302. Epub 2022 Aug 22 doi: 10.1259/bjr.20211302. PMID: 35969186Free PMC Article
Li B, Hu X, Pan H, Xiao Y, Dong J, Bao Y, Fang M
Bratisl Lek Listy 2022;123(7):523-527. doi: 10.4149/BLL_2022_084. PMID: 35907060
Hata Y, Mochizuki J, Okamoto S, Matsumi H, Hashimoto K
Medicine (Baltimore) 2022 Jul 22;101(29):e29875. doi: 10.1097/MD.0000000000029875. PMID: 35866765Free PMC Article
Bagaev E, Ali A, Saha S, Sadoni S, Orban M, Naebauer M, Mehilli J, Massberg S, Oberbach A, Hagl C
Medicina (Kaunas) 2022 Jan 7;58(1) doi: 10.3390/medicina58010093. PMID: 35056401Free PMC Article
Williams MC, Massera D, Moss AJ, Bing R, Bularga A, Adamson PD, Hunter A, Alam S, Shah ASV, Pawade T, Roditi G, van Beek EJR, Nicol ED, Newby DE, Dweck MR
Eur Heart J Cardiovasc Imaging 2021 Feb 22;22(3):262-270. doi: 10.1093/ehjci/jeaa263. PMID: 33306104Free PMC Article

Recent systematic reviews

Masson W, Barbagelata L, Oberti P, Falconi M, Lavalle-Cobo A, Corral P, Nogueira JP
Nutr Metab Cardiovasc Dis 2023 May;33(5):925-933. Epub 2023 Feb 16 doi: 10.1016/j.numecd.2023.01.025. PMID: 36890070

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