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Asymmetric septal hypertrophy(ASH)

MedGen UID:
104705
Concept ID:
C0205700
Disease or Syndrome
Synonyms: ASH; ASYMMETRIC SEPTAL HYPERTROPHY
 
HPO: HP:0001670
OMIM®: 192600

Definition

Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAsymmetric septal hypertrophy

Conditions with this feature

Mucopolysaccharidosis, MPS-III-A
MedGen UID:
39264
Concept ID:
C0086647
Disease or Syndrome
Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.
Mucopolysaccharidosis, MPS-III-B
MedGen UID:
88601
Concept ID:
C0086648
Disease or Syndrome
Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.
Mucopolysaccharidosis, MPS-III-C
MedGen UID:
39477
Concept ID:
C0086649
Disease or Syndrome
Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.
Mucopolysaccharidosis, MPS-III-D
MedGen UID:
88602
Concept ID:
C0086650
Disease or Syndrome
Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.
Hypertrophic cardiomyopathy 6
MedGen UID:
331466
Concept ID:
C1833236
Disease or Syndrome
Mutations in the PRKAG2 gene (602743) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild to severe cardiac hypertrophy, enhanced risk of sudden cardiac death in midlife, and autosomal dominant inheritance with full penetrance (summary by Burwinkel et al., 2005).
Hypertrophic cardiomyopathy 10
MedGen UID:
331754
Concept ID:
C1834460
Disease or Syndrome
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene.
Cardiomyopathy associated with myopathy and sudden death
MedGen UID:
395232
Concept ID:
C1859328
Disease or Syndrome
Hypertrophic cardiomyopathy 16
MedGen UID:
462554
Concept ID:
C3151204
Disease or Syndrome
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene.
Hypertrophic cardiomyopathy 1
MedGen UID:
501195
Concept ID:
C3495498
Disease or Syndrome
Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH). Such LVH occurs in a non-dilated ventricle in the absence of other cardiac or systemic disease capable of producing the observed magnitude of increased LV wall thickness, such as pressure overload (e.g., long-standing hypertension, aortic stenosis) or storage/infiltrative disorders (e.g., Fabry disease, amyloidosis). The clinical manifestations of HCM range from asymptomatic LVH to progressive heart failure to sudden cardiac death (SCD), and vary from individual to individual even within the same family. Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostasis, presyncope, and syncope. Most often the LVH of HCM becomes apparent during adolescence or young adulthood, although it may also develop late in life, in infancy, or in childhood.
Cardiomyopathy, familial hypertrophic, 28
MedGen UID:
1779612
Concept ID:
C5543616
Disease or Syndrome
Familial hypertrophic cardiomyopathy-28 (CMH28) is characterized by asymmetric septal hypertrophy, atrial fibrillation and nonsustained ventricular tachycardia, and risk of sudden death. Dyspnea is the most common symptom, but more than half of affected individuals are asymptomatic. Hypertrabeculation of the left ventricle with noncompaction has been observed in some patients (Ochoa et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see CMH1 (192600).
Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies
MedGen UID:
1824081
Concept ID:
C5774308
Disease or Syndrome
Hypertrophic cardiomyopathy-29 (CMH29) is characterized by recurrent syncope, dyspnea on exertion, and palpitations. The clinical phenotype is associated with a poor prognosis due to lethal arrhythmias and cardiac failure. Cardiac muscle biopsies show intermyofibrillar accumulation of glycogen and polyglucosan bodies within cardiomyocytes, and skeletal muscle accumulation of glycogen has also been observed (Hedberg-Oldfors et al., 2019). For a general phenotypic description and discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600).

Professional guidelines

PubMed

Kubo T, Amano M, Takashio S, Okumura T, Yamamoto S, Nabeta T, Oikawa M, Kurisu S, Ochi Y, Sugiura K, Baba Y, Kuroiwa H, Hirota T, Yamasaki N, Ishii S, Nochioka K, Takeishi Y, Yasuda S, Tsujita K, Izumi C, Kitaoka H
J Cardiol 2022 Oct;80(4):325-331. Epub 2022 May 25 doi: 10.1016/j.jjcc.2022.05.003. PMID: 35643740
Khan AA, Tang GHL, Engstrom K, Khan M, Patel N, Dangas GD, Sharma SK, Kini A
JACC Cardiovasc Interv 2019 Nov 11;12(21):2228-2230. doi: 10.1016/j.jcin.2019.06.025. PMID: 31699383
Thiebaugeorges O, Guyard-Boileau B
Diabetes Metab 2010 Dec;36(6 Pt 2):672-81. doi: 10.1016/j.diabet.2010.11.017. PMID: 21163429

Recent clinical studies

Etiology

Woodland M, Al-Horani RA
Cardiovasc Hematol Agents Med Chem 2023;21(2):78-83. doi: 10.2174/1871525721666221019095218. PMID: 36278454Free PMC Article
Liu J, Zhao S, Yu S, Wu G, Wang D, Liu L, Song J, Zhu Y, Kang L, Wang J, Song L
Radiology 2022 Feb;302(2):298-306. Epub 2021 Nov 2 doi: 10.1148/radiol.2021210914. PMID: 34726536
Vela-Huerta MM, Amador-Licona N, Villagomez HVO, Ruiz AH, Guizar-Mendoza JM
Indian Pediatr 2019 Apr 15;56(4):314-316. PMID: 31064902
Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM
Heart 2015 Feb;101(4):294-301. Epub 2014 Oct 28 doi: 10.1136/heartjnl-2014-306387. PMID: 25351510Free PMC Article
Thiebaugeorges O, Guyard-Boileau B
Diabetes Metab 2010 Dec;36(6 Pt 2):672-81. doi: 10.1016/j.diabet.2010.11.017. PMID: 21163429

Diagnosis

Mannion J, Wilkinson M
Heart 2024 Oct 10;110(21):1261-1286. doi: 10.1136/heartjnl-2024-324820. PMID: 39389613
Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM
Heart 2015 Feb;101(4):294-301. Epub 2014 Oct 28 doi: 10.1136/heartjnl-2014-306387. PMID: 25351510Free PMC Article
Waller BF
J Am Soc Echocardiogr 1988 Jan-Feb;1(1):4-19. doi: 10.1016/s0894-7317(88)80060-9. PMID: 3078540
Gregor P, Widimsky P, Sladkova T, Petrikova J, Cervenka V, Visek V
Jpn Heart J 1984 Jul;25(4):499-508. doi: 10.1536/ihj.25.499. PMID: 6502935
Ann Intern Med 1974 Nov;81(5):650-80. doi: 10.7326/0003-4819-81-5-650. PMID: 4608574

Therapy

Woodland M, Al-Horani RA
Cardiovasc Hematol Agents Med Chem 2023;21(2):78-83. doi: 10.2174/1871525721666221019095218. PMID: 36278454Free PMC Article
Rigopoulos AG, Seggewiss H
Curr Cardiol Rev 2016;12(4):285-296. doi: 10.2174/1573403x11666150107160344. PMID: 25563291Free PMC Article
Di Tommaso L, Stassano P, Mannacio V, Russolillo V, Monaco M, Pinna G, Vosa C
J Thorac Cardiovasc Surg 2013 Jan;145(1):171-5. Epub 2012 Feb 15 doi: 10.1016/j.jtcvs.2011.10.096. PMID: 22341422
Schlossarek S, Schuermann F, Geertz B, Mearini G, Eschenhagen T, Carrier L
J Muscle Res Cell Motil 2012 May;33(1):5-15. Epub 2011 Nov 11 doi: 10.1007/s10974-011-9273-6. PMID: 22076249
Gregor P, Widimsky P, Sladkova T, Petrikova J, Cervenka V, Visek V
Jpn Heart J 1984 Jul;25(4):499-508. doi: 10.1536/ihj.25.499. PMID: 6502935

Prognosis

Liu J, Zhao S, Yu S, Wu G, Wang D, Liu L, Song J, Zhu Y, Kang L, Wang J, Song L
Radiology 2022 Feb;302(2):298-306. Epub 2021 Nov 2 doi: 10.1148/radiol.2021210914. PMID: 34726536
Rigopoulos AG, Seggewiss H
Curr Cardiol Rev 2016;12(4):285-296. doi: 10.2174/1573403x11666150107160344. PMID: 25563291Free PMC Article
Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM
Heart 2015 Feb;101(4):294-301. Epub 2014 Oct 28 doi: 10.1136/heartjnl-2014-306387. PMID: 25351510Free PMC Article
Thiebaugeorges O, Guyard-Boileau B
Diabetes Metab 2010 Dec;36(6 Pt 2):672-81. doi: 10.1016/j.diabet.2010.11.017. PMID: 21163429
Don IJ
Minn Med 1976 Apr;59(4):279-82. PMID: 775283

Clinical prediction guides

Liu J, Zhao S, Yu S, Wu G, Wang D, Liu L, Song J, Zhu Y, Kang L, Wang J, Song L
Radiology 2022 Feb;302(2):298-306. Epub 2021 Nov 2 doi: 10.1148/radiol.2021210914. PMID: 34726536
Becker RC, Owens AP 3rd, Sadayappan S
J Thromb Thrombolysis 2020 Feb;49(2):177-183. doi: 10.1007/s11239-019-02026-1. PMID: 31898271Free PMC Article
Lin HY, Chen MR, Lin SM, Hung CL, Niu DM, Chang TM, Chuang CK, Lin SP
Orphanet J Rare Dis 2019 Jun 13;14(1):140. doi: 10.1186/s13023-019-1112-7. PMID: 31196149Free PMC Article
Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM
Heart 2015 Feb;101(4):294-301. Epub 2014 Oct 28 doi: 10.1136/heartjnl-2014-306387. PMID: 25351510Free PMC Article
Kuznetsov VA, Yaroslavskaya EI, Zyrianov IP, Kolunin GV, Krinochkin DV, Bessonova MI, Bessonov IS
Eur J Echocardiogr 2010 Sep;11(8):698-702. Epub 2010 Apr 10 doi: 10.1093/ejechocard/jeq046. PMID: 20382976

Recent systematic reviews

Rajab BS
Curr Cardiol Rev 2023;19(2):e250822208003. doi: 10.2174/1573403X18666220825153725. PMID: 36028969Free PMC Article
Thiebaugeorges O, Guyard-Boileau B
Diabetes Metab 2010 Dec;36(6 Pt 2):672-81. doi: 10.1016/j.diabet.2010.11.017. PMID: 21163429

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