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Left ventricular systolic dysfunction

MedGen UID:
226908
Concept ID:
C1277187
Disease or Syndrome
Synonyms: Dysfunction, LV Systolic; Left Ventricular Systolic Dysfunction; LV Systolic Dysfunction; LV Systolic Dysfunctions; Systolic Dysfunction, LV
SNOMED CT: Left ventricular systolic dysfunction (134401001)
 
HPO: HP:0025169

Definition

Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent. [from HPO]

Conditions with this feature

Dilated cardiomyopathy 1DD
MedGen UID:
416441
Concept ID:
C2750995
Disease or Syndrome
An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the RBM20 gene, encoding RNA-binding protein 20.
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
MedGen UID:
461766
Concept ID:
C3150416
Disease or Syndrome
MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with impaired intellectual development and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) (Godfrey et al., 2007). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).
Left ventricular noncompaction 8
MedGen UID:
815618
Concept ID:
C3809288
Disease or Syndrome
Some individuals with left ventricular noncompaction experience no symptoms at all; others have heart problems that can include sudden cardiac death. Additional signs and symptoms include abnormal blood clots, irregular heart rhythm (arrhythmia), a sensation of fluttering or pounding in the chest (palpitations), extreme fatigue during exercise (exercise intolerance), shortness of breath (dyspnea), fainting (syncope), swelling of the legs (lymphedema), and trouble laying down flat. Some affected individuals have features of other heart defects. Left ventricular noncompaction can be diagnosed at any age, from birth to late adulthood. Approximately two-thirds of individuals with left ventricular noncompaction develop heart failure.\n\nLeft ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly. Instead of the muscle being smooth and firm, the cardiac muscle in the left ventricle is thick and appears spongy. The abnormal cardiac muscle is weak and has an impaired ability to pump blood because it either cannot completely contract or it cannot completely relax. For the heart to pump blood normally, cardiac muscle must contract and relax fully.
Mitochondrial complex 2 deficiency, nuclear type 3
MedGen UID:
1751884
Concept ID:
C5436934
Disease or Syndrome
Mitochondrial complex II deficiency nuclear type 3 (MC2DN3) is an autosomal recessive multisystemic metabolic disorder with a highly variable phenotype. Some patients may have an encephalomyopathic picture with episodic developmental regression, loss of motor skills, hypotonia, ataxia, dystonia, and seizures or myoclonus. Other patients present in infancy with hypertrophic cardiomyopathy, which may be fatal. Laboratory studies show increased serum lactate and mitochondrial complex II deficiency in muscle and fibroblasts (summary by Jackson et al., 2014 and Alston et al., 2015). For a discussion of genetic heterogeneity of MC2DN, see MC2DN1 (252011).
Hypotaurinemic retinal degeneration and cardiomyopathy
MedGen UID:
1779589
Concept ID:
C5542181
Disease or Syndrome
Hypotaurinemic retinal degeneration and cardiomyopathy (HTRDC) is an autosomal recessive disorder characterized by low plasma taurine, childhood-onset progressive retinal degeneration, and cardiomyopathy (Ansar et al., 2020).
Intellectual disability and myopathy syndrome
MedGen UID:
1808193
Concept ID:
C5676904
Disease or Syndrome
Intellectual disability and myopathy syndrome (IDMYS) is an autosomal recessive developmental disorder characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and white matter abnormalities on brain imaging. Variable additional features may include sensorineural hearing loss, dysmorphic facies, and progressive heart disease (summary by Smeland et al., 2019).

Professional guidelines

PubMed

Ravikumar N, Sayed MA, Poonsuph CJ, Sehgal R, Shirke MM, Harky A
Curr Probl Cardiol 2021 Apr;46(4):100767. Epub 2020 Dec 11 doi: 10.1016/j.cpcardiol.2020.100767. PMID: 33388489
Rose JJ, Wang L, Xu Q, McTiernan CF, Shiva S, Tejero J, Gladwin MT
Am J Respir Crit Care Med 2017 Mar 1;195(5):596-606. doi: 10.1164/rccm.201606-1275CI. PMID: 27753502Free PMC Article
Grimard BH, Safford RE, Burns EL
Am Fam Physician 2016 Mar 1;93(5):371-8. PMID: 26926974

Recent clinical studies

Etiology

Khurshid S, Frankel DS
Cardiol Clin 2023 Aug;41(3):449-461. doi: 10.1016/j.ccl.2023.03.010. PMID: 37321694
Khurshid S, Frankel DS
Card Electrophysiol Clin 2021 Dec;13(4):741-753. Epub 2021 Sep 23 doi: 10.1016/j.ccep.2021.06.009. PMID: 34689900
Barbar T, Mahmood SS, Liu JE
Cardiol Clin 2019 Nov;37(4):441-447. doi: 10.1016/j.ccl.2019.07.009. PMID: 31587785
Moioli M, Valenzano Menada M, Bentivoglio G, Ferrero S
Arch Gynecol Obstet 2010 Feb;281(2):183-8. Epub 2009 Aug 5 doi: 10.1007/s00404-009-1170-5. PMID: 19655159
Cleland JG, Daubert JC, Erdmann E, Freemantle N, Gras D, Kappenberger L, Tavazzi L; Cardiac Resynchronization-Heart Failure (CARE-HF) Study Investigators
N Engl J Med 2005 Apr 14;352(15):1539-49. Epub 2005 Mar 7 doi: 10.1056/NEJMoa050496. PMID: 15753115

Diagnosis

Farrell AS, Kuller JA, Goldstein SA, Dotters-Katz SK
Obstet Gynecol Surv 2021 Aug;76(8):485-492. doi: 10.1097/OGX.0000000000000903. PMID: 34449851
Ravikumar N, Sayed MA, Poonsuph CJ, Sehgal R, Shirke MM, Harky A
Curr Probl Cardiol 2021 Apr;46(4):100767. Epub 2020 Dec 11 doi: 10.1016/j.cpcardiol.2020.100767. PMID: 33388489
Douglass EJ, Blauwet LA
Cardiol Clin 2021 Feb;39(1):119-142. doi: 10.1016/j.ccl.2020.09.008. PMID: 33222808
Geske JB, Anavekar NS, Nishimura RA, Oh JK, Gersh BJ
J Am Coll Cardiol 2016 Nov 29;68(21):2329-2347. doi: 10.1016/j.jacc.2016.08.050. PMID: 27884252
Grimard BH, Safford RE, Burns EL
Am Fam Physician 2016 Mar 1;93(5):371-8. PMID: 26926974

Therapy

Khurshid S, Frankel DS
Cardiol Clin 2023 Aug;41(3):449-461. doi: 10.1016/j.ccl.2023.03.010. PMID: 37321694
Shaddy R, Burch M, Kantor PF, Solar-Yohay S, Garito T, Zhang S, Kocun M, Bonnet D
Circ Heart Fail 2023 Mar;16(3):e009816. Epub 2023 Jan 5 doi: 10.1161/CIRCHEARTFAILURE.122.009816. PMID: 36601956Free PMC Article
Prabhu S, Taylor AJ, Costello BT, Kaye DM, McLellan AJA, Voskoboinik A, Sugumar H, Lockwood SM, Stokes MB, Pathik B, Nalliah CJ, Wong GR, Azzopardi SM, Gutman SJ, Lee G, Layland J, Mariani JA, Ling LH, Kalman JM, Kistler PM
J Am Coll Cardiol 2017 Oct 17;70(16):1949-1961. Epub 2017 Aug 27 doi: 10.1016/j.jacc.2017.08.041. PMID: 28855115
Gaggin HK, Januzzi JL Jr
Biochim Biophys Acta 2013 Dec;1832(12):2442-50. Epub 2013 Jan 9 doi: 10.1016/j.bbadis.2012.12.014. PMID: 23313577
Cleland JG, Daubert JC, Erdmann E, Freemantle N, Gras D, Kappenberger L, Tavazzi L; Cardiac Resynchronization-Heart Failure (CARE-HF) Study Investigators
N Engl J Med 2005 Apr 14;352(15):1539-49. Epub 2005 Mar 7 doi: 10.1056/NEJMoa050496. PMID: 15753115

Prognosis

Tran P, Banerjee P
Curr Heart Fail Rep 2020 Apr;17(2):21-27. doi: 10.1007/s11897-020-00452-4. PMID: 32086714Free PMC Article
Singh T, Samson R, Ayinapudi K, Motwani A, Le Jemtel TH
Cardiol Rev 2019 Jul/Aug;27(4):198-201. doi: 10.1097/CRD.0000000000000237. PMID: 31180939
Ammirati E, Cipriani M, Moro C, Raineri C, Pini D, Sormani P, Mantovani R, Varrenti M, Pedrotti P, Conca C, Mafrici A, Grosu A, Briguglia D, Guglielmetto S, Perego GB, Colombo S, Caico SI, Giannattasio C, Maestroni A, Carubelli V, Metra M, Lombardi C, Campodonico J, Agostoni P, Peretto G, Scelsi L, Turco A, Di Tano G, Campana C, Belloni A, Morandi F, Mortara A, Cirò A, Senni M, Gavazzi A, Frigerio M, Oliva F, Camici PG; Registro Lombardo delle Miocarditi
Circulation 2018 Sep 11;138(11):1088-1099. doi: 10.1161/CIRCULATIONAHA.118.035319. PMID: 29764898
Velazquez EJ, Lee KL, Jones RH, Al-Khalidi HR, Hill JA, Panza JA, Michler RE, Bonow RO, Doenst T, Petrie MC, Oh JK, She L, Moore VL, Desvigne-Nickens P, Sopko G, Rouleau JL; STICHES Investigators
N Engl J Med 2016 Apr 21;374(16):1511-20. Epub 2016 Apr 3 doi: 10.1056/NEJMoa1602001. PMID: 27040723Free PMC Article
Cleland JG, Daubert JC, Erdmann E, Freemantle N, Gras D, Kappenberger L, Tavazzi L; Cardiac Resynchronization-Heart Failure (CARE-HF) Study Investigators
N Engl J Med 2005 Apr 14;352(15):1539-49. Epub 2005 Mar 7 doi: 10.1056/NEJMoa050496. PMID: 15753115

Clinical prediction guides

Khurshid S, Frankel DS
Cardiol Clin 2023 Aug;41(3):449-461. doi: 10.1016/j.ccl.2023.03.010. PMID: 37321694
Hsiang CW, Lin C, Liu WC, Lin CS, Chang WC, Hsu HH, Huang GS, Lou YS, Lee CC, Wang CH, Fang WH
Can J Cardiol 2022 Jun;38(6):763-773. Epub 2022 Jan 7 doi: 10.1016/j.cjca.2021.12.019. PMID: 35007705
Khurshid S, Frankel DS
Card Electrophysiol Clin 2021 Dec;13(4):741-753. Epub 2021 Sep 23 doi: 10.1016/j.ccep.2021.06.009. PMID: 34689900
Cavefors O, Holmqvist J, Bech-Hanssen O, Einarsson F, Norberg E, Lundin S, Omerovic E, Ricksten SE, Redfors B, Oras J
ESC Heart Fail 2021 Dec;8(6):5415-5423. Epub 2021 Oct 4 doi: 10.1002/ehf2.13633. PMID: 34605611Free PMC Article
Gopal DM, Sam F
J Cardiovasc Transl Res 2013 Aug;6(4):516-27. Epub 2013 Apr 23 doi: 10.1007/s12265-013-9462-3. PMID: 23609585Free PMC Article

Recent systematic reviews

Russo V, Sperlongano S, Gallinoro E, Rago A, Papa AA, Golino P, Politano L, Nazarian S, Nigro G
J Card Fail 2020 Oct;26(10):849-856. Epub 2019 Aug 12 doi: 10.1016/j.cardfail.2019.07.548. PMID: 31415861
Egbe AC, Adigun R, Anand V, West CP, Montori VM, Murad MH, Akintoye E, Osman K, Connolly HM
Can J Cardiol 2019 Dec;35(12):1784-1790. Epub 2019 Aug 8 doi: 10.1016/j.cjca.2019.07.634. PMID: 31732195
Tam TS, Wu MH, Masson SC, Tsang MP, Stabler SN, Kinkade A, Tung A, Tejani AM
Cochrane Database Syst Rev 2017 Feb 28;2(2):CD008996. doi: 10.1002/14651858.CD008996.pub2. PMID: 28245343Free PMC Article
McKelvie RS
BMJ Clin Evid 2011 Aug 30;2011 PMID: 21878135Free PMC Article
McKelvie RS
BMJ Clin Evid 2010 Feb 25;2010 PMID: 21718583Free PMC Article

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