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Left ventricular noncompaction 7(LVNC7)

MedGen UID:
767410
Concept ID:
C3554496
Disease or Syndrome
Synonym: LVNC7
 
Gene (location): MIB1 (18q11.2)
 
Monarch Initiative: MONDO:0014042
OMIM®: 615092

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
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.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLeft ventricular noncompaction 7

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
Masso AH, Uribe C, Willerson JT, Cheong BY, Davis BR
Tex Heart Inst J 2020 Jun 1;47(3):183-193. doi: 10.14503/THIJ-19-7157. PMID: 32997774Free PMC Article
Fuchs TA, Erhart L, Ghadri JR, Herzog BA, Giannopoulos A, Buechel RR, Stämpfli SF, Gruner C, Pazhenkottil AP, Niemann M, Kaufmann PA, Tanner FC
PLoS One 2020;15(7):e0235751. Epub 2020 Jul 10 doi: 10.1371/journal.pone.0235751. PMID: 32649698Free PMC Article

Recent clinical studies

Etiology

Stöllberger C, Finsterer J
Rev Cardiovasc Med 2021 Dec 22;22(4):1413-1420. doi: 10.31083/j.rcm2204146. PMID: 34957781
Masso AH, Uribe C, Willerson JT, Cheong BY, Davis BR
Tex Heart Inst J 2020 Jun 1;47(3):183-193. doi: 10.14503/THIJ-19-7157. PMID: 32997774Free 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
Miyake CY, Kim JJ
Card Electrophysiol Clin 2015 Jun;7(2):319-30. Epub 2015 Apr 10 doi: 10.1016/j.ccep.2015.03.007. PMID: 26002396
Gati S, Rajani R, Carr-White GS, Chambers JB
JACC Cardiovasc Imaging 2014 Dec;7(12):1266-75. doi: 10.1016/j.jcmg.2014.09.005. PMID: 25496545

Diagnosis

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
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
Børresen MF, Blixenkrone-Møller E, Kock TO, Sillesen AS, Vøgg ROB, Pihl CA, Norsk JB, Vejlstrup NG, Christensen AH, Iversen KK, Bundgaard H, Axelsson Raja A
Circ Cardiovasc Imaging 2022 Jun;15(6):e014159. Epub 2022 Jun 21 doi: 10.1161/CIRCIMAGING.121.014159. PMID: 35727876
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
Engberding R, Stöllberger C, Ong P, Yelbuz TM, Gerecke BJ, Breithardt G
Dtsch Arztebl Int 2010 Mar;107(12):206-13. Epub 2010 Mar 26 doi: 10.3238/arztebl.2010.0206. PMID: 20386670Free PMC Article

Therapy

Lehmonen L, Putaala J, Pöyhönen P, Kuusisto J, Pirinen J, Sinisalo J, Järvinen V
Int J Cardiovasc Imaging 2022 Nov;38(11):2395-2402. Epub 2022 May 30 doi: 10.1007/s10554-022-02643-7. PMID: 36434329Free PMC Article
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
Ivanov A, Dabiesingh DS, Bhumireddy GP, Mohamed A, Asfour A, Briggs WM, Ho J, Khan SA, Grossman A, Klem I, Sacchi TJ, Heitner JF
Circ Cardiovasc Imaging 2017 Sep;10(9) doi: 10.1161/CIRCIMAGING.117.006174. PMID: 28899950
Peters F, Khandheria BK, Botha F, Libhaber E, Matioda H, Dos Santos C, Govender S, Meel R, Essop MR
J Card Fail 2014 Oct;20(10):709-715. Epub 2014 Jul 29 doi: 10.1016/j.cardfail.2014.07.007. PMID: 25079299
Stöllberger C, Blazek G, Dobias C, Hanafin A, Wegner C, Finsterer J
Am J Cardiol 2011 Oct 1;108(7):1021-3. Epub 2011 Jul 23 doi: 10.1016/j.amjcard.2011.05.039. PMID: 21784395

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
Stöllberger C, Finsterer J
Expert Rev Cardiovasc Ther 2019 Feb;17(2):95-109. Epub 2018 Dec 31 doi: 10.1080/14779072.2019.1561280. PMID: 30570401
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
Miyake CY, Kim JJ
Card Electrophysiol Clin 2015 Jun;7(2):319-30. Epub 2015 Apr 10 doi: 10.1016/j.ccep.2015.03.007. PMID: 26002396
Engberding R, Stöllberger C, Ong P, Yelbuz TM, Gerecke BJ, Breithardt G
Dtsch Arztebl Int 2010 Mar;107(12):206-13. Epub 2010 Mar 26 doi: 10.3238/arztebl.2010.0206. PMID: 20386670Free PMC Article

Clinical prediction guides

Stöllberger C, Finsterer J
Rev Cardiovasc Med 2021 Dec 22;22(4):1413-1420. doi: 10.31083/j.rcm2204146. PMID: 34957781
Casas G, Limeres J, Oristrell G, Gutierrez-Garcia L, Andreini D, Borregan M, Larrañaga-Moreira JM, Lopez-Sainz A, Codina-Solà M, Teixido-Tura G, Sorolla-Romero JA, Fernández-Álvarez P, González-Carrillo J, Guala A, La Mura L, Soler-Fernández R, Sao Avilés A, Santos-Mateo JJ, Marsal JR, Ribera A, de la Pompa JL, Villacorta E, Jiménez-Jáimez J, Ripoll-Vera T, Bayes-Genis A, Garcia-Pinilla JM, Palomino-Doza J, Tiron C, Pontone G, Bogaert J, Aquaro GD, Gimeno-Blanes JR, Zorio E, Garcia-Pavia P, Barriales-Villa R, Evangelista A, Masci PG, Ferreira-González I, Rodríguez-Palomares JF
J Am Coll Cardiol 2021 Aug 17;78(7):643-662. doi: 10.1016/j.jacc.2021.06.016. PMID: 34384546
Choquet C, Kelly RG, Miquerol L
Pediatr Cardiol 2019 Oct;40(7):1331-1338. Epub 2019 Jul 24 doi: 10.1007/s00246-019-02161-9. PMID: 31342111
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
Gati S, Rajani R, Carr-White GS, Chambers JB
JACC Cardiovasc Imaging 2014 Dec;7(12):1266-75. doi: 10.1016/j.jcmg.2014.09.005. PMID: 25496545

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
Bhaskaran A, Campbell T, Virk S, Bennett RG, Kizana E, Kumar S
J Cardiovasc Electrophysiol 2021 May;32(5):1421-1429. Epub 2021 Apr 12 doi: 10.1111/jce.15026. PMID: 33792994
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
Kayvanpour E, Sedaghat-Hamedani F, Gi WT, Tugrul OF, Amr A, Haas J, Zhu F, Ehlermann P, Uhlmann L, Katus HA, Meder B
Clin Res Cardiol 2019 Nov;108(11):1297-1308. Epub 2019 Apr 12 doi: 10.1007/s00392-019-01465-3. PMID: 30980206

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