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Left ventricular noncompaction 8(LVNC8)

MedGen UID:
815618
Concept ID:
C3809288
Disease or Syndrome
Synonym: LVNC8
 
Gene (location): PRDM16 (1p36.32)
 
Monarch Initiative: MONDO:0014152
OMIM®: 615373

Definition

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.

Left 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. [from MedlinePlus Genetics]

Clinical features

From HPO
Cardiac arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Finding
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Left ventricular diastolic dysfunction
MedGen UID:
696562
Concept ID:
C1273070
Disease or Syndrome
Abnormal function of the left ventricule during left ventricular relaxation and filling.
Left ventricular systolic dysfunction
MedGen UID:
226908
Concept ID:
C1277187
Disease or Syndrome
Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.
Left ventricular noncompaction
MedGen UID:
450531
Concept ID:
C1960469
Disease or Syndrome
Left 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.\n\nSome 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.

Professional guidelines

PubMed

Wanert C, El Louali F, Al Dybiat S, Nguyen K, Zaffran S, Ovaert C
Arch Cardiovasc Dis 2023 Jun-Jul;116(6-7):309-315. Epub 2023 May 16 doi: 10.1016/j.acvd.2023.04.008. PMID: 37246080
Schweiger M, Vanderpluym C, Jeewa A, Canter CE, Jansz P, Parrino PE, Miera O, Schmitto J, Mehegan M, Adachi I, Hübler M, Zimpfer D
Am J Transplant 2015 Feb;15(2):453-60. Epub 2015 Jan 21 doi: 10.1111/ajt.13003. PMID: 25612114
Frischknecht BS, Attenhofer Jost CH, Oechslin EN, Seifert B, Hoigné P, Roos M, Jenni R
J Am Soc Echocardiogr 2005 Aug;18(8):865-72. doi: 10.1016/j.echo.2005.03.011. PMID: 16084340

Recent clinical studies

Etiology

Erhart L, Kaufmann BA, Gencer B, Haager PK, Müller H, Kobza R, Held L, Stämpfli SF
Cardiol J 2023;30(5):781-789. Epub 2022 Nov 17 doi: 10.5603/CJ.a2022.0105. PMID: 36385602Free PMC Article
Demir E, Ceylan N, Bayraktaroğlu S, Çinkooğlu A, Candemir A, Candemir YB, Güneş MT, Yeniyol Ş, Yılmaz EB, Zoghi M, Akıllı A, Gürgün C, Nalbantgil S
Echocardiography 2022 Dec;39(12):1608-1615. Epub 2022 Nov 29 doi: 10.1111/echo.15498. PMID: 36447302
Schiebel K, Finsterer J, Lazarevic P, Stöllberger C
J Stroke Cerebrovasc Dis 2022 Sep;31(9):106623. Epub 2022 Jul 6 doi: 10.1016/j.jstrokecerebrovasdis.2022.106623. PMID: 35803121
Guigui SA, Horvath SA, Arenas IA, Mihos CG
J Echocardiogr 2022 Sep;20(3):144-150. Epub 2022 Jan 8 doi: 10.1007/s12574-021-00560-7. PMID: 34997537
van Waning JI, Caliskan K, Hoedemaekers YM, van Spaendonck-Zwarts KY, Baas AF, Boekholdt SM, van Melle JP, Teske AJ, Asselbergs FW, Backx APCM, du Marchie Sarvaas GJ, Dalinghaus M, Breur JMPJ, Linschoten MPM, Verlooij LA, Kardys I, Dooijes D, Lekanne Deprez RH, IJpma AS, van den Berg MP, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, Majoor-Krakauer D
J Am Coll Cardiol 2018 Feb 20;71(7):711-722. doi: 10.1016/j.jacc.2017.12.019. PMID: 29447731

Diagnosis

Bagnall RD, Singer ES, Wacker J, Nowak N, Ingles J, King I, Macciocca I, Crowe J, Ronan A, Weintraub RG, Semsarian C
Circ Genom Precis Med 2022 Dec;15(6):e003686. Epub 2022 Oct 11 doi: 10.1161/CIRCGEN.121.003686. PMID: 36252119
de Frutos F, Ochoa JP, Navarro-Peñalver M, Baas A, Bjerre JV, Zorio E, Méndez I, Lorca R, Verdonschot JAJ, García-Granja PE, Bilinska Z, Fatkin D, Fuentes-Cañamero ME, García-Pinilla JM, García-Álvarez MI, Girolami F, Barriales-Villa R, Díez-López C, Lopes LR, Wahbi K, García-Álvarez A, Rodríguez-Sánchez I, Rekondo-Olaetxea J, Rodríguez-Palomares JF, Gallego-Delgado M, Meder B, Kubanek M, Hansen FG, Restrepo-Córdoba MA, Palomino-Doza J, Ruiz-Guerrero L, Sarquella-Brugada G, Perez-Perez AJ, Bermúdez-Jiménez FJ, Ripoll-Vera T, Rasmussen TB, Jansen M, Sabater-Molina M, Elliot PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators
J Am Coll Cardiol 2022 Oct 11;80(15):1447-1461. Epub 2022 Aug 22 doi: 10.1016/j.jacc.2022.07.023. PMID: 36007715
Schiebel K, Finsterer J, Lazarevic P, Stöllberger C
J Stroke Cerebrovasc Dis 2022 Sep;31(9):106623. Epub 2022 Jul 6 doi: 10.1016/j.jstrokecerebrovasdis.2022.106623. PMID: 35803121
van Waning JI, Caliskan K, Hoedemaekers YM, van Spaendonck-Zwarts KY, Baas AF, Boekholdt SM, van Melle JP, Teske AJ, Asselbergs FW, Backx APCM, du Marchie Sarvaas GJ, Dalinghaus M, Breur JMPJ, Linschoten MPM, Verlooij LA, Kardys I, Dooijes D, Lekanne Deprez RH, IJpma AS, van den Berg MP, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, Majoor-Krakauer D
J Am Coll Cardiol 2018 Feb 20;71(7):711-722. doi: 10.1016/j.jacc.2017.12.019. PMID: 29447731
Clarke SL, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, Martin RP, Tsai-Goodman B, Garratt V, Ashworth M, Bowen VM, McCurdy KR, Damin MK, Spencer CT, Toth MJ, Kelley RI, Steward CG
Orphanet J Rare Dis 2013 Feb 12;8:23. doi: 10.1186/1750-1172-8-23. PMID: 23398819Free PMC Article

Therapy

Zahedivash A, Hanisch D, Dubin AM, Trela A, Chubb H, Motonaga KS, Goodyer WR, Maeda K, Reinhartz O, Ma M, Martin E, Ceresnak SR
Circ Arrhythm Electrophysiol 2022 Feb;15(2):e010557. Epub 2022 Jan 28 doi: 10.1161/CIRCEP.121.010557. PMID: 35089800
Migliore F, Silvano M, Zorzi A, Bertaglia E, Siciliano M, Leoni L, De Franceschi P, Iliceto S, Corrado D
J Cardiovasc Med (Hagerstown) 2016 Jul;17(7):485-93. doi: 10.2459/JCM.0000000000000395. PMID: 27136702
Bhatia NL, Tajik AJ, Wilansky S, Steidley DE, Mookadam F
J Card Fail 2011 Sep;17(9):771-8. doi: 10.1016/j.cardfail.2011.05.002. PMID: 21872148
Chachques JC
Expert Rev Cardiovasc Ther 2009 Aug;7(8):911-9. doi: 10.1586/erc.09.84. PMID: 19673669
Frischknecht BS, Attenhofer Jost CH, Oechslin EN, Seifert B, Hoigné P, Roos M, Jenni R
J Am Soc Echocardiogr 2005 Aug;18(8):865-72. doi: 10.1016/j.echo.2005.03.011. PMID: 16084340

Prognosis

Kim MJ, Cha S, Baek JS, Yu JJ, Seo GH, Kang M, Do HS, Lee SE, Lee BH
BMC Med Genomics 2023 Oct 30;16(1):270. doi: 10.1186/s12920-023-01639-z. PMID: 37904158Free PMC Article
Demir E, Ceylan N, Bayraktaroğlu S, Çinkooğlu A, Candemir A, Candemir YB, Güneş MT, Yeniyol Ş, Yılmaz EB, Zoghi M, Akıllı A, Gürgün C, Nalbantgil S
Echocardiography 2022 Dec;39(12):1608-1615. Epub 2022 Nov 29 doi: 10.1111/echo.15498. PMID: 36447302
Bagnall RD, Singer ES, Wacker J, Nowak N, Ingles J, King I, Macciocca I, Crowe J, Ronan A, Weintraub RG, Semsarian C
Circ Genom Precis Med 2022 Dec;15(6):e003686. Epub 2022 Oct 11 doi: 10.1161/CIRCGEN.121.003686. PMID: 36252119
de Frutos F, Ochoa JP, Navarro-Peñalver M, Baas A, Bjerre JV, Zorio E, Méndez I, Lorca R, Verdonschot JAJ, García-Granja PE, Bilinska Z, Fatkin D, Fuentes-Cañamero ME, García-Pinilla JM, García-Álvarez MI, Girolami F, Barriales-Villa R, Díez-López C, Lopes LR, Wahbi K, García-Álvarez A, Rodríguez-Sánchez I, Rekondo-Olaetxea J, Rodríguez-Palomares JF, Gallego-Delgado M, Meder B, Kubanek M, Hansen FG, Restrepo-Córdoba MA, Palomino-Doza J, Ruiz-Guerrero L, Sarquella-Brugada G, Perez-Perez AJ, Bermúdez-Jiménez FJ, Ripoll-Vera T, Rasmussen TB, Jansen M, Sabater-Molina M, Elliot PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators
J Am Coll Cardiol 2022 Oct 11;80(15):1447-1461. Epub 2022 Aug 22 doi: 10.1016/j.jacc.2022.07.023. PMID: 36007715
van Waning JI, Caliskan K, Hoedemaekers YM, van Spaendonck-Zwarts KY, Baas AF, Boekholdt SM, van Melle JP, Teske AJ, Asselbergs FW, Backx APCM, du Marchie Sarvaas GJ, Dalinghaus M, Breur JMPJ, Linschoten MPM, Verlooij LA, Kardys I, Dooijes D, Lekanne Deprez RH, IJpma AS, van den Berg MP, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, Majoor-Krakauer D
J Am Coll Cardiol 2018 Feb 20;71(7):711-722. doi: 10.1016/j.jacc.2017.12.019. PMID: 29447731

Clinical prediction guides

Erhart L, Kaufmann BA, Gencer B, Haager PK, Müller H, Kobza R, Held L, Stämpfli SF
Cardiol J 2023;30(5):781-789. Epub 2022 Nov 17 doi: 10.5603/CJ.a2022.0105. PMID: 36385602Free PMC Article
Kiss AR, Gregor Z, Furak A, Tóth A, Horváth M, Szabo L, Czimbalmos C, Dohy Z, Merkely B, Vago H, Szucs A
Anatol J Cardiol 2021 Aug;25(8):565-571. doi: 10.5152/AnatolJCardiol.2021.25905. PMID: 34369884Free PMC Article
Kim H, Kim IC, Chung JW
Int J Cardiovasc Imaging 2021 Feb;37(2):467-477. Epub 2020 Sep 8 doi: 10.1007/s10554-020-02013-1. PMID: 32901347
van Waning JI, Caliskan K, Hoedemaekers YM, van Spaendonck-Zwarts KY, Baas AF, Boekholdt SM, van Melle JP, Teske AJ, Asselbergs FW, Backx APCM, du Marchie Sarvaas GJ, Dalinghaus M, Breur JMPJ, Linschoten MPM, Verlooij LA, Kardys I, Dooijes D, Lekanne Deprez RH, IJpma AS, van den Berg MP, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, Majoor-Krakauer D
J Am Coll Cardiol 2018 Feb 20;71(7):711-722. doi: 10.1016/j.jacc.2017.12.019. PMID: 29447731
Probst S, Oechslin E, Schuler P, Greutmann M, Boyé P, Knirsch W, Berger F, Thierfelder L, Jenni R, Klaassen S
Circ Cardiovasc Genet 2011 Aug 1;4(4):367-74. Epub 2011 May 6 doi: 10.1161/CIRCGENETICS.110.959270. PMID: 21551322

Recent systematic reviews

Fan P, Yang KQ, Han B, Kong D, Yin WH, Li JH, Yang ZX, Niu LL, Fu CS, Rong CZ, Lin YH, Wang H, Zhou XL, Gao LG, Qin XC, Tian T
Pediatr Res 2023 Aug;94(2):683-690. Epub 2023 Feb 9 doi: 10.1038/s41390-023-02515-3. PMID: 36759750
Bardhi E, Faralli I, Deroma M, Galoppi P, Ventriglia F, Giancotti A, Perrone G, Brunelli R
J Matern Fetal Neonatal Med 2021 Sep;34(17):2910-2917. Epub 2019 Oct 1 doi: 10.1080/14767058.2019.1671337. PMID: 31570025
van Waning JI, Moesker J, Heijsman D, Boersma E, Majoor-Krakauer D
J Am Heart Assoc 2019 Dec 3;8(23):e012993. Epub 2019 Nov 27 doi: 10.1161/JAHA.119.012993. PMID: 31771441Free PMC Article
Grigoratos C, Barison A, Ivanov A, Andreini D, Amzulescu MS, Mazurkiewicz L, De Luca A, Grzybowski J, Masci PG, Marczak M, Heitner JF, Schwitter J, Gerber BL, Emdin M, Aquaro GD
JACC Cardiovasc Imaging 2019 Nov;12(11 Pt 1):2141-2151. Epub 2019 Mar 13 doi: 10.1016/j.jcmg.2018.12.029. PMID: 30878415
Bertini M, Balla C, Pavasini R, Boriani G
J Cardiovasc Med (Hagerstown) 2018 Jul;19(7):324-328. doi: 10.2459/JCM.0000000000000657. PMID: 29877973

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