Left Ventricular Noncompaction : A Distinct Genetic Cardiomyopathy?
作者： Eloisa Arbustini , Valentina Favalli , Nupoor Narula , Alessandra Serio , Maurizia Grasso
DOI: 10.1016/J.JACC.2016.05.096
关键词:
摘要: Left ventricular noncompaction (LVNC) describes a wall anatomy characterized by prominent left (LV) trabeculae, thin compacted layer, and deep intertrabecular recesses. Individual variability is extreme, trabeculae represent sort of individual "cardioprinting." By itself, the diagnosis LVNC does not coincide with that "cardiomyopathy" because it can be observed in healthy subjects normal LV size function, acquired reversible. Rarely, intrinsically part cardiomyopathy; paradigmatic examples are infantile tafazzinopathies. When associated dilation dysfunction, hypertrophy, or congenital heart disease, genetic cause may overlap. The prevalence athletes, its possible reversibility, increasing suggests cautious use term cardiomyopathy, which morphology but functional profile cardiomyopathy.
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Guillermo Luxán, Jesús C Casanova, Beatriz Martínez-Poveda, Belén Prados, Gaetano D'Amato, Donal MacGrogan, Alvaro Gonzalez-Rajal, David Dobarro, Carlos Torroja, Fernando Martinez, José Luis Izquierdo-García, Leticia Fernández-Friera, María Sabater-Molina, Young-Y Kong, Gonzalo Pizarro, Borja Ibañez, Constancio Medrano, Pablo García-Pavía, Juan R Gimeno, Lorenzo Monserrat, Luis J Jiménez-Borreguero, José Luis de la Pompa, Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy Nature Medicine. ,vol. 19, pp. 193- 201 ,(2013) , 10.1038/NM.3046
Matteo Vatta, Bhagyalaxmi Mohapatra, Shinawe Jimenez, Ximena Sanchez, Georgine Faulkner, Zeev Perles, Gianfranco Sinagra, Jiuann-Huey Lin, Thuy M Vu, Qiang Zhou, Karla R Bowles, Andrea Di Lenarda, Lisa Schimmenti, Michelle Fox, Michelle A Chrisco, Ross T Murphy, William McKenna, Perry Elliott, Neil E Bowles, Ju Chen, Giorgio Valle, Jeffrey A Towbin, Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. Journal of the American College of Cardiology. ,vol. 42, pp. 2014- 2027 ,(2003) , 10.1016/J.JACC.2003.10.021
Sha Tang, Anjan Batra, Yu Zhang, Eric S. Ebenroth, Taosheng Huang, Left ventricular noncompaction is associated with mutations in the mitochondrial genome. Mitochondrion. ,vol. 10, pp. 350- 357 ,(2010) , 10.1016/J.MITO.2010.02.003
Sem Briongos-Figuero, Fernando Ruiz-Rejón, José Julio Jiménez-Nacher, Alicia Megías, Forma asociada familiar de miocardiopatía no compactada y poliquistosis renal Revista Espanola De Cardiologia. ,vol. 63, pp. 488- 489 ,(2010) , 10.1016/S0300-8932(10)70071-3
Ray E. Hershberger, Joann Lindenfeld, Luisa Mestroni, Christine E. Seidman, Matthew R.G. Taylor, Jeffrey A. Towbin, Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline Journal of Cardiac Failure. ,vol. 15, pp. 83- 97 ,(2009) , 10.1016/J.CARDFAIL.2009.01.006
Richard D Bagnall, Laura K Molloy, Jonathan M Kalman, Christopher Semsarian, Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death BMC Medical Genetics. ,vol. 15, pp. 99- 99 ,(2014) , 10.1186/S12881-014-0099-0
Manuel Hermida-Prieto, Lorenzo Monserrat, Alfonso Castro-Beiras, Rafael Laredo, Rafaela Soler, Jesus Peteiro, Esther Rodríguez, Beatriz Bouzas, Nemesio Álvarez, Javier Muñiz, Marisa Crespo-Leiro, Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations American Journal of Cardiology. ,vol. 94, pp. 50- 54 ,(2004) , 10.1016/J.AMJCARD.2004.03.029
Barry J. Maron, Michael J. Ackerman, Rick A. Nishimura, Reed E. Pyeritz, Jeffrey A. Towbin, James E. Udelson, Task force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome Journal of the American College of Cardiology. ,vol. 45, pp. 1340- 1345 ,(2005) , 10.1016/J.JACC.2005.02.011
Susanne Probst, Erwin Oechslin, Pia Schuler, Matthias Greutmann, Philipp Boyé, Walter Knirsch, Felix Berger, Ludwig Thierfelder, Rolf Jenni, Sabine Klaassen, Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. Circulation-cardiovascular Genetics. ,vol. 4, pp. 367- 374 ,(2011) , 10.1161/CIRCGENETICS.110.959270
Sabine Sasse-Klaassen, Susanne Probst, Brenda Gerull, Erwin Oechslin, Peter Nürnberg, Arnd Heuser, Rolf Jenni, Hans Christian Hennies, Ludwig Thierfelder, Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15 Circulation. ,vol. 109, pp. 2720- 2723 ,(2004) , 10.1161/01.CIR.0000131865.21260.56