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Left ventricular noncompaction 2(LVNC2)

MedGen UID:
322827
Concept ID:
C1836118
Disease or Syndrome
Synonym: LVNC2
 
Monarch Initiative: MONDO:0012285
OMIM®: 609470

Clinical features

From HPO
Left ventricular noncompaction cardiomyopathy
MedGen UID:
866782
Concept ID:
C4021133
Disease or Syndrome
Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.

Professional guidelines

PubMed

Bogle C, Colan SD, Miyamoto SD, Choudhry S, Baez-Hernandez N, Brickler MM, Feingold B, Lal AK, Lee TM, Canter CE, Lipshultz SE; American Heart Association Young Hearts Pediatric Heart Failure and Transplantation Committee of the Council on Lifelong Congenital Heart Disease and Heart Health in the Young (Young Hearts)
Circulation 2023 Jul 11;148(2):174-195. Epub 2023 Jun 8 doi: 10.1161/CIR.0000000000001151. PMID: 37288568
Khan RS, Pahl E, Dellefave-Castillo L, Rychlik K, Ing A, Yap KL, Brew C, Johnston JR, McNally EM, Webster G
J Am Heart Assoc 2022 Jan 4;11(1):e022854. Epub 2021 Dec 22 doi: 10.1161/JAHA.121.022854. PMID: 34935411Free PMC Article
Miszalski-Jamka K, Jefferies JL, Mazur W, Głowacki J, Hu J, Lazar M, Gibbs RA, Liczko J, Kłyś J, Venner E, Muzny DM, Rycaj J, Białkowski J, Kluczewska E, Kalarus Z, Jhangiani S, Al-Khalidi H, Kukulski T, Lupski JR, Craigen WJ, Bainbridge MN
Circ Cardiovasc Genet 2017 Aug;10(4) doi: 10.1161/CIRCGENETICS.117.001763. PMID: 28798025Free PMC Article

Recent clinical studies

Etiology

Bogle C, Colan SD, Miyamoto SD, Choudhry S, Baez-Hernandez N, Brickler MM, Feingold B, Lal AK, Lee TM, Canter CE, Lipshultz SE; American Heart Association Young Hearts Pediatric Heart Failure and Transplantation Committee of the Council on Lifelong Congenital Heart Disease and Heart Health in the Young (Young Hearts)
Circulation 2023 Jul 11;148(2):174-195. Epub 2023 Jun 8 doi: 10.1161/CIR.0000000000001151. PMID: 37288568
Schaufelberger M
Heart 2019 Oct;105(20):1543-1551. Epub 2019 Jul 15 doi: 10.1136/heartjnl-2018-313476. PMID: 31308064Free PMC Article
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
Miszalski-Jamka K, Jefferies JL, Mazur W, Głowacki J, Hu J, Lazar M, Gibbs RA, Liczko J, Kłyś J, Venner E, Muzny DM, Rycaj J, Białkowski J, Kluczewska E, Kalarus Z, Jhangiani S, Al-Khalidi H, Kukulski T, Lupski JR, Craigen WJ, Bainbridge MN
Circ Cardiovasc Genet 2017 Aug;10(4) doi: 10.1161/CIRCGENETICS.117.001763. PMID: 28798025Free PMC Article
Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program
Circ Cardiovasc Genet 2013 Aug;6(4):337-46. Epub 2013 Jul 16 doi: 10.1161/CIRCGENETICS.113.000039. PMID: 23861362Free PMC Article

Diagnosis

Bogle C, Colan SD, Miyamoto SD, Choudhry S, Baez-Hernandez N, Brickler MM, Feingold B, Lal AK, Lee TM, Canter CE, Lipshultz SE; American Heart Association Young Hearts Pediatric Heart Failure and Transplantation Committee of the Council on Lifelong Congenital Heart Disease and Heart Health in the Young (Young Hearts)
Circulation 2023 Jul 11;148(2):174-195. Epub 2023 Jun 8 doi: 10.1161/CIR.0000000000001151. PMID: 37288568
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
Khan RS, Pahl E, Dellefave-Castillo L, Rychlik K, Ing A, Yap KL, Brew C, Johnston JR, McNally EM, Webster G
J Am Heart Assoc 2022 Jan 4;11(1):e022854. Epub 2021 Dec 22 doi: 10.1161/JAHA.121.022854. PMID: 34935411Free PMC Article
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
Miszalski-Jamka K, Jefferies JL, Mazur W, Głowacki J, Hu J, Lazar M, Gibbs RA, Liczko J, Kłyś J, Venner E, Muzny DM, Rycaj J, Białkowski J, Kluczewska E, Kalarus Z, Jhangiani S, Al-Khalidi H, Kukulski T, Lupski JR, Craigen WJ, Bainbridge MN
Circ Cardiovasc Genet 2017 Aug;10(4) doi: 10.1161/CIRCGENETICS.117.001763. PMID: 28798025Free PMC Article

Therapy

Bogle C, Colan SD, Miyamoto SD, Choudhry S, Baez-Hernandez N, Brickler MM, Feingold B, Lal AK, Lee TM, Canter CE, Lipshultz SE; American Heart Association Young Hearts Pediatric Heart Failure and Transplantation Committee of the Council on Lifelong Congenital Heart Disease and Heart Health in the Young (Young Hearts)
Circulation 2023 Jul 11;148(2):174-195. Epub 2023 Jun 8 doi: 10.1161/CIR.0000000000001151. PMID: 37288568
Kazmirczak F, Martin CM, Shenoy C
Circulation 2020 Feb 25;141(8):696-701. Epub 2020 Feb 24 doi: 10.1161/CIRCULATIONAHA.119.043716. PMID: 32091931Free PMC Article
Kido K, Guglin M
J Cardiovasc Pharmacol Ther 2019 Jan;24(1):31-36. Epub 2018 Jun 18 doi: 10.1177/1074248418783745. PMID: 29911432
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
Mangrolia N, Watson T, Gopalan D, Ray KK
J Cardiovasc Med (Hagerstown) 2011 Jun;12(6):430-3. doi: 10.2459/JCM.0b013e3283410295. PMID: 21119528

Prognosis

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
Khan RS, Pahl E, Dellefave-Castillo L, Rychlik K, Ing A, Yap KL, Brew C, Johnston JR, McNally EM, Webster G
J Am Heart Assoc 2022 Jan 4;11(1):e022854. Epub 2021 Dec 22 doi: 10.1161/JAHA.121.022854. PMID: 34935411Free PMC Article
Schaufelberger M
Heart 2019 Oct;105(20):1543-1551. Epub 2019 Jul 15 doi: 10.1136/heartjnl-2018-313476. PMID: 31308064Free PMC Article
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
Stöllberger C, Finsterer J
J Am Soc Echocardiogr 2004 Jan;17(1):91-100. doi: 10.1016/S0894-7317(03)00514-5. PMID: 14712196

Clinical prediction guides

Khan RS, Pahl E, Dellefave-Castillo L, Rychlik K, Ing A, Yap KL, Brew C, Johnston JR, McNally EM, Webster G
J Am Heart Assoc 2022 Jan 4;11(1):e022854. Epub 2021 Dec 22 doi: 10.1161/JAHA.121.022854. PMID: 34935411Free PMC Article
Stöllberger C, Finsterer J
Rev Cardiovasc Med 2021 Dec 22;22(4):1413-1420. doi: 10.31083/j.rcm2204146. PMID: 34957781
Adabifirouzjaei F, Igata S, DeMaria AN
Prog Cardiovasc Dis 2021 Sep-Oct;68:60-69. Epub 2021 Jul 13 doi: 10.1016/j.pcad.2021.07.007. PMID: 34265334
Schaufelberger M
Heart 2019 Oct;105(20):1543-1551. Epub 2019 Jul 15 doi: 10.1136/heartjnl-2018-313476. PMID: 31308064Free PMC Article
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

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
Hirono K, Takarada S, Miyao N, Nakaoka H, Ibuki K, Ozawa S, Origasa H, Ichida F
Open Heart 2022 May;9(1) doi: 10.1136/openhrt-2021-001908. PMID: 35613828Free PMC Article
Aung N, Doimo S, Ricci F, Sanghvi MM, Pedrosa C, Woodbridge SP, Al-Balah A, Zemrak F, Khanji MY, Munroe PB, Naci H, Petersen SE
Circ Cardiovasc Imaging 2020 Jan;13(1):e009712. Epub 2020 Jan 21 doi: 10.1161/CIRCIMAGING.119.009712. PMID: 31959004Free PMC Article
Ross SB, Jones K, Blanch B, Puranik R, McGeechan K, Barratt A, Semsarian C
Eur Heart J 2020 Apr 7;41(14):1428-1436. doi: 10.1093/eurheartj/ehz317. PMID: 31143950
Kido K, Guglin M
J Cardiovasc Pharmacol Ther 2019 Jan;24(1):31-36. Epub 2018 Jun 18 doi: 10.1177/1074248418783745. PMID: 29911432

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