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Ventricular septal hypertrophy

MedGen UID:
138013
Concept ID:
C0344955
Finding
Synonym: Left ventricular septal hypertrophy
SNOMED CT: Ventricular septal hypertrophy (111027004); Interventricular septal hypertrophy (111027004); Interventricular cardiac septal hypertrophy (111027004)
 
HPO: HP:0005144

Definition

The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. [from HPO]

Term Hierarchy

Conditions with this feature

Fabry disease
MedGen UID:
8083
Concept ID:
C0002986
Disease or Syndrome
Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (a-Gal A), leading to progressive lysosomal deposition of globotriaosylceramide and its derivatives in cells throughout the body. The classic form, occurring in males with less than 1% a-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesia), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhidrosis, hypohidrosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of renal function to end-stage renal disease (ESRD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESRD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, females may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, late-onset forms occur in males with greater than 1% a-Gal A activity. Clinical manifestations include cardiac disease, which usually presents in the sixth to eighth decade with left ventricular hypertrophy, cardiomyopathy, arrhythmia, and proteinuria; renal failure, associated with ESRD but without the skin lesions or pain; or cerebrovascular disease presenting as stroke or transient ischemic attack.
Congenital generalized lipodystrophy type 2
MedGen UID:
318593
Concept ID:
C1720863
Congenital Abnormality
Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.
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.
Intellectual disability-brachydactyly-Pierre Robin syndrome
MedGen UID:
325196
Concept ID:
C1837564
Disease or Syndrome
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.
Hypertrophic cardiomyopathy 4
MedGen UID:
350526
Concept ID:
C1861862
Disease or Syndrome
Nonfamilial hypertrophic cardiomyopathy tends to be milder. This form typically begins later in life than familial hypertrophic cardiomyopathy, and affected individuals have a lower risk of serious cardiac events and sudden death than people with the familial form.\n\nWhile most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.\n\nThe symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting.\n\nIn familial hypertrophic cardiomyopathy, cardiac thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Familial hypertrophic cardiomyopathy often begins in adolescence or young adulthood, although it can develop at any time throughout life.\n\nHypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. When multiple members of a family have the condition, it is known as familial hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy also occurs in people with no family history; these cases are considered nonfamilial hypertrophic cardiomyopathy. 
Hypertrophic cardiomyopathy 2
MedGen UID:
349383
Concept ID:
C1861864
Disease or Syndrome
Hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. When multiple members of a family have the condition, it is known as familial hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy also occurs in people with no family history; these cases are considered nonfamilial hypertrophic cardiomyopathy. \n\nIn familial hypertrophic cardiomyopathy, cardiac thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Familial hypertrophic cardiomyopathy often begins in adolescence or young adulthood, although it can develop at any time throughout life.\n\nThe symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting.\n\nWhile most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.\n\nNonfamilial hypertrophic cardiomyopathy tends to be milder. This form typically begins later in life than familial hypertrophic cardiomyopathy, and affected individuals have a lower risk of serious cardiac events and sudden death than people with the familial form.
Hypertrophic cardiomyopathy 12
MedGen UID:
393755
Concept ID:
C2677491
Disease or Syndrome
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
MedGen UID:
414476
Concept ID:
C2751807
Disease or Syndrome
Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene.
Dilated cardiomyopathy 1KK
MedGen UID:
811544
Concept ID:
C3714995
Disease or Syndrome
Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene.
Cardiofaciocutaneous syndrome 4
MedGen UID:
815337
Concept ID:
C3809007
Disease or Syndrome
Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia, has been reported in some individuals.
Combined oxidative phosphorylation defect type 15
MedGen UID:
1646555
Concept ID:
C4706313
Disease or Syndrome
A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported. Caused by homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.
Cardiomyopathy, familial hypertrophic 27
MedGen UID:
1648325
Concept ID:
C4748014
Disease or Syndrome
CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (188840), and MYL3 (160790) genes has also been reported in 1 family.
Marbach-Rustad progeroid syndrome
MedGen UID:
1784907
Concept ID:
C5543388
Disease or Syndrome
Marbach-Rustad progeroid syndrome (MARUPS) is characterized by progeroid appearance with little subcutaneous fat and triangular facies, growth retardation with short stature, hypoplastic mandible crowded with unerupted supernumerary teeth, and cerebellar intention tremor. Psychomotor development is normal. Although features are reminiscent of Hutchinson-Gilford progeria syndrome (HGPS; 176670), MARUPS is less severe, with a relatively good prognosis. Two patients have been reported (Marbach et al., 2019).

Professional guidelines

PubMed

Curran L, de Marvao A, Inglese P, McGurk KA, Schiratti PR, Clement A, Zheng SL, Li S, Pua CJ, Shah M, Jafari M, Theotokis P, Buchan RJ, Jurgens SJ, Raphael CE, Baksi AJ, Pantazis A, Halliday BP, Pennell DJ, Bai W, Chin CWL, Tadros R, Bezzina CR, Watkins H, Cook SA, Prasad SK, Ware JS, O'Regan DP
Circ Genom Precis Med 2023 Dec;16(6):e004200. Epub 2023 Nov 28 doi: 10.1161/CIRCGEN.123.004200. PMID: 38014537Free PMC Article
Nagueh SF, Phelan D, Abraham T, Armour A, Desai MY, Dragulescu A, Gilliland Y, Lester SJ, Maldonado Y, Mohiddin S, Nieman K, Sperry BW, Woo A
J Am Soc Echocardiogr 2022 Jun;35(6):533-569. doi: 10.1016/j.echo.2022.03.012. PMID: 35659037
Tuohy CV, Kaul S, Song HK, Nazer B, Heitner SB
Eur J Heart Fail 2020 Feb;22(2):228-240. Epub 2020 Jan 9 doi: 10.1002/ejhf.1715. PMID: 31919938

Recent clinical studies

Etiology

Wang S, Zhu C
Asian Cardiovasc Thorac Ann 2022 Jan;30(1):92-97. Epub 2021 Sep 27 doi: 10.1177/02184923211041285. PMID: 34569255
Loncaric F, Nunno L, Mimbrero M, Marciniak M, Fernandes JF, Tirapu L, Fabijanovic D, Sanchis L, Doltra A, Cikes M, Lamata P, Bijnens B, Sitges M
Am J Cardiol 2020 May 1;125(9):1339-1346. Epub 2020 Feb 8 doi: 10.1016/j.amjcard.2020.01.045. PMID: 32164912
Katayama M, Panse PM, Kendall CB, Daniels JR, Cha SS, Fortuin FD, Sweeney JP, DeValeria PA, Lanza LA, Belohlavek M, Chaliki HP
J Ultrasound Med 2018 Jan;37(1):217-224. Epub 2017 Jul 25 doi: 10.1002/jum.14320. PMID: 28741721
Yeoh TY, Wittwer ED, Weingarten TN, Sprung J
J Cardiothorac Vasc Anesth 2014 Oct;28(5):1243-50. Epub 2014 Jan 23 doi: 10.1053/j.jvca.2013.09.015. PMID: 24461361
Kotajima N, Hirakata T, Kanda T, Yokoyama T, Hoshino Y, Tanaka T, Tamura J, Nagai R, Kobayasii I
Jpn Heart J 2000 Jul;41(4):463-9. doi: 10.1536/jhj.41.463. PMID: 11041097

Diagnosis

Özpak E, Van Heuverswyn F, Timmermans F, De Pooter J
J Cardiovasc Electrophysiol 2023 Nov;34(11):2255-2261. Epub 2023 Sep 17 doi: 10.1111/jce.16073. PMID: 37717221
Katayama M, Panse PM, Kendall CB, Daniels JR, Cha SS, Fortuin FD, Sweeney JP, DeValeria PA, Lanza LA, Belohlavek M, Chaliki HP
J Ultrasound Med 2018 Jan;37(1):217-224. Epub 2017 Jul 25 doi: 10.1002/jum.14320. PMID: 28741721
Yan LR, Zhao SH, Wang HY, Duan FJ, Wang ZM, Yang YJ, Guo XY, Cai C, Xu ZM, Li YS, Fan CM
J Cardiovasc Med (Hagerstown) 2015 Nov;16(11):751-60. doi: 10.2459/JCM.0000000000000163. PMID: 25022933
Yeoh TY, Wittwer ED, Weingarten TN, Sprung J
J Cardiothorac Vasc Anesth 2014 Oct;28(5):1243-50. Epub 2014 Jan 23 doi: 10.1053/j.jvca.2013.09.015. PMID: 24461361
Maron BJ, Bonow RO, Seshagiri TN, Roberts WC, Epstein SE
Am J Cardiol 1982 Jun;49(8):1838-48. doi: 10.1016/0002-9149(82)90200-4. PMID: 6211078

Therapy

Özpak E, Van Heuverswyn F, Timmermans F, De Pooter J
J Cardiovasc Electrophysiol 2023 Nov;34(11):2255-2261. Epub 2023 Sep 17 doi: 10.1111/jce.16073. PMID: 37717221
Wang S, Zhu C
Asian Cardiovasc Thorac Ann 2022 Jan;30(1):92-97. Epub 2021 Sep 27 doi: 10.1177/02184923211041285. PMID: 34569255
Yeoh TY, Wittwer ED, Weingarten TN, Sprung J
J Cardiothorac Vasc Anesth 2014 Oct;28(5):1243-50. Epub 2014 Jan 23 doi: 10.1053/j.jvca.2013.09.015. PMID: 24461361
Braunlin E, Rosenfeld H, Kampmann C, Johnson J, Beck M, Giugliani R, Guffon N, Ketteridge D, Sá Miranda CM, Scarpa M, Schwartz IV, Leão Teles E, Wraith JE, Barrios P, Dias da Silva E, Kurio G, Richardson M, Gildengorin G, Hopwood JJ, Imperiale M, Schatz A, Decker C, Harmatz P; MPS VI Study Group
J Inherit Metab Dis 2013 Mar;36(2):385-94. Epub 2012 Jun 5 doi: 10.1007/s10545-012-9481-2. PMID: 22669363Free PMC Article
Abbas AE, Brewington SD, Dixon SR, Grines CL, O'Neill WW
J Interv Cardiol 2005 Jun;18(3):155-62. doi: 10.1111/j.1540-8183.2005.04107.x. PMID: 15966918

Prognosis

Wang S, Zhu C
Asian Cardiovasc Thorac Ann 2022 Jan;30(1):92-97. Epub 2021 Sep 27 doi: 10.1177/02184923211041285. PMID: 34569255
Katayama M, Panse PM, Kendall CB, Daniels JR, Cha SS, Fortuin FD, Sweeney JP, DeValeria PA, Lanza LA, Belohlavek M, Chaliki HP
J Ultrasound Med 2018 Jan;37(1):217-224. Epub 2017 Jul 25 doi: 10.1002/jum.14320. PMID: 28741721
Yan LR, Zhao SH, Wang HY, Duan FJ, Wang ZM, Yang YJ, Guo XY, Cai C, Xu ZM, Li YS, Fan CM
J Cardiovasc Med (Hagerstown) 2015 Nov;16(11):751-60. doi: 10.2459/JCM.0000000000000163. PMID: 25022933
Maron BJ, Klues HG
Am J Cardiol 1994 Jun 1;73(15):1098-104. doi: 10.1016/0002-9149(94)90290-9. PMID: 8198037
Brookfield L, Bharati S, Denes P, Halstead RD, Lev M
Chest 1988 Nov;94(5):989-93. doi: 10.1378/chest.94.5.989. PMID: 2972532

Clinical prediction guides

Özpak E, Van Heuverswyn F, Timmermans F, De Pooter J
J Cardiovasc Electrophysiol 2023 Nov;34(11):2255-2261. Epub 2023 Sep 17 doi: 10.1111/jce.16073. PMID: 37717221
Wang S, Zhu C
Asian Cardiovasc Thorac Ann 2022 Jan;30(1):92-97. Epub 2021 Sep 27 doi: 10.1177/02184923211041285. PMID: 34569255
Katayama M, Panse PM, Kendall CB, Daniels JR, Cha SS, Fortuin FD, Sweeney JP, DeValeria PA, Lanza LA, Belohlavek M, Chaliki HP
J Ultrasound Med 2018 Jan;37(1):217-224. Epub 2017 Jul 25 doi: 10.1002/jum.14320. PMID: 28741721
Yan LR, Zhao SH, Wang HY, Duan FJ, Wang ZM, Yang YJ, Guo XY, Cai C, Xu ZM, Li YS, Fan CM
J Cardiovasc Med (Hagerstown) 2015 Nov;16(11):751-60. doi: 10.2459/JCM.0000000000000163. PMID: 25022933
Braunlin E, Rosenfeld H, Kampmann C, Johnson J, Beck M, Giugliani R, Guffon N, Ketteridge D, Sá Miranda CM, Scarpa M, Schwartz IV, Leão Teles E, Wraith JE, Barrios P, Dias da Silva E, Kurio G, Richardson M, Gildengorin G, Hopwood JJ, Imperiale M, Schatz A, Decker C, Harmatz P; MPS VI Study Group
J Inherit Metab Dis 2013 Mar;36(2):385-94. Epub 2012 Jun 5 doi: 10.1007/s10545-012-9481-2. PMID: 22669363Free PMC Article

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