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Mitral stenosis

MedGen UID:
44466
Concept ID:
C0026269
Disease or Syndrome
Synonym: Mitral valve stenosis
SNOMED CT: MS - Mitral stenosis (79619009); Mitral stenosis (79619009); Mitral valve stenosis (79619009)
 
HPO: HP:0001718
Monarch Initiative: MONDO:0005852

Definition

An abnormal narrowing of the orifice of the mitral valve. [from HPO]

Conditions with this feature

Mucopolysaccharidosis, MPS-I-S
MedGen UID:
6453
Concept ID:
C0026708
Disease or Syndrome
Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I. Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.
Mucopolysaccharidosis type 6
MedGen UID:
44514
Concept ID:
C0026709
Disease or Syndrome
Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).
Kabuki syndrome
MedGen UID:
162897
Concept ID:
C0796004
Congenital Abnormality
Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.
Autosomal recessive inherited pseudoxanthoma elasticum
MedGen UID:
698415
Concept ID:
C1275116
Disease or Syndrome
Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span.
Spondyloepiphyseal dysplasia with congenital joint dislocations
MedGen UID:
373381
Concept ID:
C1837657
Disease or Syndrome
CHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal.
Heterotaxy, visceral, 1, X-linked
MedGen UID:
336609
Concept ID:
C1844020
Disease or Syndrome
Heterotaxy Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart Defects Congenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). Reviews Obler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral Heterotaxy See also HTX2 (605376), caused by mutation in the CFC1 gene (605194) on chromosome 2q21; HTX3 (606325), which maps to chromosome 6q21; HTX4 (613751), caused by mutation in the ACVR2B gene (602730) on chromosome 3p22; HTX5 (270100), caused by mutation in the NODAL gene (601265) on chromosome 10q22; HTX6 (614779), caused by mutation in the CCDC11 gene (614759) on chromosome 18q21; HTX7 (616749), caused by mutation in the MMP21 gene (608416) on chromosome 10q26; HTX8 (617205), caused by mutation in the PKD1L1 gene (609721) on chromosome 7p12; HTX9 (618948), caused by mutation in the MNS1 gene (610766) on chromosome 15q21; HTX10 (619607), caused by mutation in the CFAP52 gene (609804) on chromosome 17p13; HTX11 (619608), caused by mutation in the CFAP45 gene (605152) on chromosome 1q23; and HTX12 (619702), caused by mutation in the CIROP gene (619703) on chromosome 14q11. Genetic Heterogeneity of Multiple Types of Congenital Heart Defects An X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (614980) is caused by mutation in the TAB2 gene (605101) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3; 614954) has been mapped to chromosome 9q31. CHTD4 (615779) is caused by mutation in the NR2F2 gene (107773) on chromosome 15q26. CHTD5 (617912) is caused by mutation in the GATA5 gene (611496) on chromosome 20q13. CHTD6 (613854) is caused by mutation in the GDF1 gene (602880) on chromosome 19p13. CHTD7 (618780) is caused by mutation in the FLT4 gene (136352) on chromosome 5q35. CHTD8 (619657) is caused by mutation in the SMAD2 gene (601366) on chromosome 18q21. CHTD9 (620294) is caused by mutation in the PLXND1 gene (604282) on chromosome 3q22.
Noonan syndrome 2
MedGen UID:
344290
Concept ID:
C1854469
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.
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.
Geleophysic dysplasia 1
MedGen UID:
479777
Concept ID:
C3278147
Disease or Syndrome
Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. Major findings are likely to be present in the first year of life. Cardiac, respiratory, and lung involvement result in death before age five years in approximately 33% of individuals with ADAMTSL2-related geleophysic dysplasia.
Geleophysic dysplasia 2
MedGen UID:
481684
Concept ID:
C3280054
Disease or Syndrome
Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. Major findings are likely to be present in the first year of life. Cardiac, respiratory, and lung involvement result in death before age five years in approximately 33% of individuals with ADAMTSL2-related geleophysic dysplasia.
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.
Noonan syndrome 10
MedGen UID:
902892
Concept ID:
C4225280
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
MedGen UID:
934611
Concept ID:
C4310644
Disease or Syndrome
GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).
Vertebral, cardiac, renal, and limb defects syndrome 1
MedGen UID:
1621146
Concept ID:
C4540004
Disease or Syndrome
Vertebral, cardiac, renal, and limb defects syndrome-1 (VCRL1) is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and mild distal limb defects. Additional features are variable (summary by Shi et al., 2017). Genetic Heterogeneity of Vertebral, Cardiac, Renal, and Limb Defects Syndrome See also VCRL2 (617661), caused by mutation in the KYNU gene (605197) on chromosome 2q22, and VCRL3 (618845), caused by mutation in the NADSYN1 gene (608285) on chromosome 11q13.
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
MedGen UID:
1794157
Concept ID:
C5561947
Disease or Syndrome
Autosomal recessive presynaptic congenital myasthenic syndrome-7B (CMS7B) is characterized by severe generalized muscle weakness apparent from birth; decreased fetal movements may be apparent in utero. Affected infants have generalized hypotonia with poor cry and feeding, head lag, and facial muscle weakness with ptosis. Some patients may have respiratory involvement. Electrophysiologic studies show decreased compound muscle action potentials (CMAPs) and a decremental response to repetitive nerve stimulation. Treatment with 3,4-diaminopyridine and pyridostigmine may result in clinical improvement (summary by Bauche et al., 2020).
Cardiac valvular defect, developmental
MedGen UID:
1823949
Concept ID:
C5774175
Disease or Syndrome
Cardiac valvular dysplasia-1 (CVDP1) is characterized by congenital malformations of the pulmonic, tricuspid, and mitral valves. Structural cardiac defects, including atrial and ventricular septal defects, single left ventricle, and hypoplastic right ventricle have also been observed in affected individuals (Ta-Shma et al., 2017). Genetic Heterogeneity of Cardiac Valvular Dysplasia CVDP2 (620067) is caused by mutation in the ADAMTS19 gene (607513) on chromosome 5q23.

Professional guidelines

PubMed

Vahanian A, Beyersdorf F, Praz F, Milojevic M, Baldus S, Bauersachs J, Capodanno D, Conradi L, De Bonis M, De Paulis R, Delgado V, Freemantle N, Gilard M, Haugaa KH, Jeppsson A, Jüni P, Pierard L, Prendergast BD, Sádaba JR, Tribouilloy C, Wojakowski W; ESC/EACTS Scientific Document Group
Eur Heart J 2022 Feb 12;43(7):561-632. doi: 10.1093/eurheartj/ehab395. PMID: 34453165
Otto CM, Nishimura RA, Bonow RO, Carabello BA, Erwin JP 3rd, Gentile F, Jneid H, Krieger EV, Mack M, McLeod C, O'Gara PT, Rigolin VH, Sundt TM 3rd, Thompson A, Toly C
Circulation 2021 Feb 2;143(5):e72-e227. Epub 2020 Dec 17 doi: 10.1161/CIR.0000000000000923. PMID: 33332150
Otto CM, Nishimura RA, Bonow RO, Carabello BA, Erwin JP 3rd, Gentile F, Jneid H, Krieger EV, Mack M, McLeod C, O'Gara PT, Rigolin VH, Sundt TM 3rd, Thompson A, Toly C
Circulation 2021 Feb 2;143(5):e35-e71. Epub 2020 Dec 17 doi: 10.1161/CIR.0000000000000932. PMID: 33332149

Recent clinical studies

Etiology

Eleid MF, Nkomo VT, Pislaru SV, Gersh BJ
Annu Rev Med 2023 Jan 27;74:155-170. Epub 2022 Nov 18 doi: 10.1146/annurev-med-042921-122533. PMID: 36400067
Jentzer JC, Ternus B, Eleid M, Rihal C
J Intensive Care Med 2021 Sep;36(9):975-988. Epub 2020 Apr 21 doi: 10.1177/0885066620918776. PMID: 32314662
Al-Sabeq B, Chamsi-Pasha MA
Curr Opin Cardiol 2020 Sep;35(5):445-453. doi: 10.1097/HCO.0000000000000760. PMID: 32649347
Wunderlich NC, Dalvi B, Ho SY, Küx H, Siegel RJ
Curr Cardiol Rep 2019 Feb 28;21(3):14. doi: 10.1007/s11886-019-1099-7. PMID: 30815750
Chandrashekhar Y, Westaby S, Narula J
Lancet 2009 Oct 10;374(9697):1271-83. Epub 2009 Sep 9 doi: 10.1016/S0140-6736(09)60994-6. PMID: 19747723

Diagnosis

Al-Sabeq B, Chamsi-Pasha MA
Curr Opin Cardiol 2020 Sep;35(5):445-453. doi: 10.1097/HCO.0000000000000760. PMID: 32649347
Al-Taweel A, Almahmoud MF, Khairandish Y, Ahmad M
Echocardiography 2019 Oct;36(10):1901-1909. Epub 2019 Oct 6 doi: 10.1111/echo.14495. PMID: 31587368
Wunderlich NC, Dalvi B, Ho SY, Küx H, Siegel RJ
Curr Cardiol Rep 2019 Feb 28;21(3):14. doi: 10.1007/s11886-019-1099-7. PMID: 30815750
Maheshwari V, Barr B, Srivastava M
Cardiol Clin 2018 Feb;36(1):115-127. Epub 2017 Oct 18 doi: 10.1016/j.ccl.2017.08.006. PMID: 29173672
Chandrashekhar Y, Westaby S, Narula J
Lancet 2009 Oct 10;374(9697):1271-83. Epub 2009 Sep 9 doi: 10.1016/S0140-6736(09)60994-6. PMID: 19747723

Therapy

da Silva RMFL
Cardiovasc Hematol Agents Med Chem 2022;20(3):172-174. doi: 10.2174/1871525720666220321120944. PMID: 35319395
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Prognosis

Delmo Walter EM, Hetzer R
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2018 Mar;21:46-57. doi: 10.1053/j.pcsu.2017.11.008. PMID: 29425525
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Clinical prediction guides

Cheng R
Curr Cardiol Rep 2021 Aug 24;23(10):148. doi: 10.1007/s11886-021-01567-3. PMID: 34427785
Silbiger JJ
J Am Soc Echocardiogr 2021 Jul;34(7):709-722.e1. Epub 2021 Feb 27 doi: 10.1016/j.echo.2021.02.015. PMID: 33652082
Wunderlich NC, Beigel R, Ho SY, Nietlispach F, Cheng R, Agricola E, Siegel RJ
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Jain S, Mankad SV
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Martínez-ríos MA, Tovar S, Luna J, Eid-Lidt G
Cardiol Rev 1999 Mar-Apr;7(2):108-16. doi: 10.1097/00045415-199903000-00014. PMID: 10348973

Recent systematic reviews

Galusko V, Ionescu A, Edwards A, Sekar B, Wong K, Patel K, Lloyd G, Ricci F, Khanji MY
Eur Heart J Qual Care Clin Outcomes 2022 Sep 5;8(6):602-618. doi: 10.1093/ehjqcco/qcab083. PMID: 34878131
Ben-Ali W, Ibrahim R, Rodès-Cabeau J, von Bardeleben RS, Mylotte D, Granada J, Modine T
Curr Cardiol Rep 2021 Mar 9;23(4):37. doi: 10.1007/s11886-021-01466-7. PMID: 33687594
Sreerama D, Surana M, Moolchandani K, Chaturvedula L, Keepanasseril A, Keepanasseril A, Pillai AA, Nair NS
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