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Aortic valve calcification

MedGen UID:
140899
Concept ID:
C0428791
Disease or Syndrome; Finding
Synonyms: Aortic Stenosis, Calcific; Aortic Valve, Calcification of
SNOMED CT: Aortic valve calcification (250978003); Calcified aortic valve (250978003)
 
HPO: HP:0004380
Monarch Initiative: MONDO:0005463
OMIM®: 109730

Definition

Deposition of calcium salts in the aortic 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.
Calcific aortic disease with immunologic abnormalities, familial
MedGen UID:
354631
Concept ID:
C1861974
Disease or Syndrome
Aortic valve disease 1
MedGen UID:
854610
Concept ID:
C3887892
Disease or Syndrome
An autosomal dominant form of bicuspid aortic valve caused by mutation(s) in the NOTCH1 gene, encoding neurogenic locus notch homolog protein 1.
Singleton-Merten syndrome 2
MedGen UID:
907372
Concept ID:
C4225380
Disease or Syndrome
Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015). For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (182250).
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.

Professional guidelines

PubMed

O'Dowd EL, Tietzova I, Bartlett E, Devaraj A, Biederer J, Brambilla M, Brunelli A, Chorostowska J, Decaluwe H, Deruysscher D, De Wever W, Donoghue M, Fabre A, Gaga M, van Geffen W, Hardavella G, Kauczor HU, Kerpel-Fronius A, van Meerbeeck J, Nagavci B, Nestle U, Novoa N, Prosch H, Prokop M, Putora PM, Rawlinson J, Revel MP, Snoeckx A, Veronesi G, Vliegenthart R, Weckbach S, Blum TG, Baldwin DR
Eur J Cardiothorac Surg 2023 Oct 4;64(4) doi: 10.1093/ejcts/ezad302. PMID: 37804174Free PMC Article
O'Dowd EL, Tietzova I, Bartlett E, Devaraj A, Biederer J, Brambilla M, Brunelli A, Chorostowska-Wynimko J, Decaluwe H, Deruysscher D, De Wever W, Donoghue M, Fabre A, Gaga M, van Geffen W, Hardavella G, Kauczor HU, Kerpel-Fronius A, van Meerbeeck J, Nagavci B, Nestle U, Novoa N, Prosch H, Prokop M, Putora PM, Rawlinson J, Revel MP, Snoeckx A, Veronesi G, Vliegenthart R, Weckbach S, Blum TG, Baldwin DR
Eur Respir J 2023 Oct;62(4) Epub 2023 Oct 19 doi: 10.1183/13993003.00533-2023. PMID: 37802631
Kosmas CE, Bousvarou MD, Papakonstantinou EJ, Tsamoulis D, Koulopoulos A, Echavarria Uceta R, Guzman E, Rallidis LS
Int J Mol Sci 2023 Sep 3;24(17) doi: 10.3390/ijms241713622. PMID: 37686428Free PMC Article

Recent clinical studies

Etiology

Pasławska A, Tomasik PJ
Cells 2023 Oct 17;12(20) doi: 10.3390/cells12202472. PMID: 37887316Free PMC Article
Kosmas CE, Bousvarou MD, Papakonstantinou EJ, Tsamoulis D, Koulopoulos A, Echavarria Uceta R, Guzman E, Rallidis LS
Int J Mol Sci 2023 Sep 3;24(17) doi: 10.3390/ijms241713622. PMID: 37686428Free PMC Article
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
Diederichsen ACP, Lindholt JS, Möller S, Øvrehus KA, Auscher S, Lambrechtsen J, Hosbond SE, Alan DH, Urbonaviciene G, Becker SW, Fredgart MH, Hasific S, Folkestad L, Gerke O, Rasmussen LM, Møller JE, Mickley H, Dahl JS
Circulation 2022 May 3;145(18):1387-1397. Epub 2022 Apr 25 doi: 10.1161/CIRCULATIONAHA.121.057008. PMID: 35465686Free PMC Article
Wang S, Yu H, Gao J, Chen J, He P, Zhong H, Tan X, Staines KA, Macrae VE, Fu X, Jiang L, Zhu D
J Biol Chem 2022 May;298(5):101887. Epub 2022 Apr 1 doi: 10.1016/j.jbc.2022.101887. PMID: 35367413Free PMC Article

Diagnosis

Zhu E, Shu X, Xu Z, Peng Y, Xiang Y, Liu Y, Guan H, Zhong M, Li J, Zhang LZ, Nie R, Zheng Z
J Transl Med 2023 Jun 1;21(1):359. doi: 10.1186/s12967-023-04171-x. PMID: 37264340Free PMC Article
Zhou Y, Shi W, Zhao D, Xiao S, Wang K, Wang J
Front Immunol 2022;13:937886. Epub 2022 Jul 4 doi: 10.3389/fimmu.2022.937886. PMID: 35865542Free PMC Article
Ternacle J, Krapf L, Mohty D, Magne J, Nguyen A, Galat A, Gallet R, Teiger E, Côté N, Clavel MA, Tournoux F, Pibarot P, Damy T
J Am Coll Cardiol 2019 Nov 26;74(21):2638-2651. doi: 10.1016/j.jacc.2019.09.056. PMID: 31753206
Pawade T, Sheth T, Guzzetti E, Dweck MR, Clavel MA
JACC Cardiovasc Imaging 2019 Sep;12(9):1835-1848. doi: 10.1016/j.jcmg.2019.01.045. PMID: 31488252
Lindman BR, Clavel MA, Mathieu P, Iung B, Lancellotti P, Otto CM, Pibarot P
Nat Rev Dis Primers 2016 Mar 3;2:16006. doi: 10.1038/nrdp.2016.6. PMID: 27188578Free PMC Article

Therapy

Messas E, Ijsselmuiden A, Trifunović-Zamaklar D, Cholley B, Puymirat E, Halim J, Karan R, van Gameren M, Terzić D, Milićević V, Tanter M, Pernot M, Goudot G
Lancet 2023 Dec 16;402(10419):2317-2325. Epub 2023 Nov 14 doi: 10.1016/S0140-6736(23)01518-0. PMID: 37972628
Zhu E, Shu X, Xu Z, Peng Y, Xiang Y, Liu Y, Guan H, Zhong M, Li J, Zhang LZ, Nie R, Zheng Z
J Transl Med 2023 Jun 1;21(1):359. doi: 10.1186/s12967-023-04171-x. PMID: 37264340Free PMC Article
Zhou Y, Shi W, Zhao D, Xiao S, Wang K, Wang J
Front Immunol 2022;13:937886. Epub 2022 Jul 4 doi: 10.3389/fimmu.2022.937886. PMID: 35865542Free PMC Article
Diederichsen ACP, Lindholt JS, Möller S, Øvrehus KA, Auscher S, Lambrechtsen J, Hosbond SE, Alan DH, Urbonaviciene G, Becker SW, Fredgart MH, Hasific S, Folkestad L, Gerke O, Rasmussen LM, Møller JE, Mickley H, Dahl JS
Circulation 2022 May 3;145(18):1387-1397. Epub 2022 Apr 25 doi: 10.1161/CIRCULATIONAHA.121.057008. PMID: 35465686Free PMC Article
Lindman BR, Clavel MA, Mathieu P, Iung B, Lancellotti P, Otto CM, Pibarot P
Nat Rev Dis Primers 2016 Mar 3;2:16006. doi: 10.1038/nrdp.2016.6. PMID: 27188578Free PMC Article

Prognosis

Tastet L, Ali M, Pibarot P, Capoulade R, Øvrehus KA, Arsenault M, Haujir A, Bédard É, Diederichsen ACP, Dahl JS, Clavel MA
J Am Heart Assoc 2024 Aug 6;13(15):e035605. Epub 2024 Jul 18 doi: 10.1161/JAHA.123.035605. PMID: 39023065
Waluś-Miarka M, Polus A, Idzior-Waluś B
Kardiol Pol 2024;82(2):144-155. Epub 2024 Feb 13 doi: 10.33963/v.phj.98945. PMID: 38348620
Zhu E, Shu X, Xu Z, Peng Y, Xiang Y, Liu Y, Guan H, Zhong M, Li J, Zhang LZ, Nie R, Zheng Z
J Transl Med 2023 Jun 1;21(1):359. doi: 10.1186/s12967-023-04171-x. PMID: 37264340Free PMC Article
Pawade T, Sheth T, Guzzetti E, Dweck MR, Clavel MA
JACC Cardiovasc Imaging 2019 Sep;12(9):1835-1848. doi: 10.1016/j.jcmg.2019.01.045. PMID: 31488252
Chong A, Senior R, Wahi S
Heart Lung Circ 2019 Sep;28(9):1310-1319. Epub 2019 Jun 12 doi: 10.1016/j.hlc.2019.05.177. PMID: 31266725

Clinical prediction guides

Zhu E, Shu X, Xu Z, Peng Y, Xiang Y, Liu Y, Guan H, Zhong M, Li J, Zhang LZ, Nie R, Zheng Z
J Transl Med 2023 Jun 1;21(1):359. doi: 10.1186/s12967-023-04171-x. PMID: 37264340Free PMC Article
The E, de Graaf DM, Zhai Y, Yao Q, Ao L, Fullerton DA, Dinarello CA, Meng X
Proc Natl Acad Sci U S A 2022 Sep 6;119(36):e2202577119. Epub 2022 Aug 29 doi: 10.1073/pnas.2202577119. PMID: 36037361Free PMC Article
Zhou Y, Shi W, Zhao D, Xiao S, Wang K, Wang J
Front Immunol 2022;13:937886. Epub 2022 Jul 4 doi: 10.3389/fimmu.2022.937886. PMID: 35865542Free PMC Article
Diederichsen ACP, Lindholt JS, Möller S, Øvrehus KA, Auscher S, Lambrechtsen J, Hosbond SE, Alan DH, Urbonaviciene G, Becker SW, Fredgart MH, Hasific S, Folkestad L, Gerke O, Rasmussen LM, Møller JE, Mickley H, Dahl JS
Circulation 2022 May 3;145(18):1387-1397. Epub 2022 Apr 25 doi: 10.1161/CIRCULATIONAHA.121.057008. PMID: 35465686Free PMC Article
Pawade T, Sheth T, Guzzetti E, Dweck MR, Clavel MA
JACC Cardiovasc Imaging 2019 Sep;12(9):1835-1848. doi: 10.1016/j.jcmg.2019.01.045. PMID: 31488252

Recent systematic reviews

Arsenault BJ, Loganath K, Girard A, Botezatu S, Zheng KH, Tzolos E, Abdoun K, Tastet L, Capoulade R, Côté N, Craig N, Chan KL, Tam JW, Teo KK, Couture C, Clavel MA, Mathieu P, Thériault S, Stroes ESG, Newby DE, Tsimikas S, Pibarot P, Dweck MR
JAMA Cardiol 2024 Sep 1;9(9):835-842. doi: 10.1001/jamacardio.2024.1882. PMID: 39018080Free PMC Article
Motawea KR, Elhalag RH, Aboelenein M, Ibrahim N, Swed S, Fathy H, Awad DM, Belal MM, Talaat NE, Rozan SS, Aiash H, Mostafa MR
Curr Probl Cardiol 2023 Sep;48(9):101746. Epub 2023 Apr 24 doi: 10.1016/j.cpcardiol.2023.101746. PMID: 37100357
Pantelidis P, Oikonomou E, Lampsas S, Zakynthinos GE, Lysandrou A, Kalogeras K, Katsianos E, Theofilis P, Siasos G, Vavuranakis MA, Antonopoulos AS, Tousoulis D, Vavouranakis M
Cardiovasc Res 2023 Jul 6;119(8):1641-1655. doi: 10.1093/cvr/cvad062. PMID: 37078819Free PMC Article
Guddeti RR, Patil S, Ahmed A, Sharma A, Aboeata A, Lavie CJ, Alla VM
Prog Cardiovasc Dis 2020 Jul-Aug;63(4):496-502. Epub 2020 Jun 8 doi: 10.1016/j.pcad.2020.06.002. PMID: 32526213
Zhang D, Dai X, Wang C, Han K, Wang J, Dong Y, Chen J, Hou L
J Clin Neurosci 2018 Sep;55:32-37. Epub 2018 Jul 21 doi: 10.1016/j.jocn.2018.07.016. PMID: 30041902

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