Left Ventricular Noncompaction 2

Watchlist

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

MYH7, MYBPC3, PRDM16, LMNA, ACTC1, MIB1, DTNA, LDB3, TPM1, PLEKHM2, TNNT2, MIB2, MYH7B, PKP2, YWHAE, SLC39A8, SCN5A, NONO, SDHD, SDHA, MIPEP, VCL, TRIM8, COA6, SDHAF1, TAZ, HCN4, NNT, TTN, SKI

MYH7, MYBPC3, PRDM16, LMNA, ACTC1, MIB1, DTNA, LDB3, TPM1, PLEKHM2, TNNT2, MIB2, MYH7B, PKP2, YWHAE, SLC39A8, SCN5A, NONO, SDHD, SDHA, MIPEP, VCL, TRIM8, COA6, SDHAF1, TAZ, HCN4, NNT, TTN, SKI, RYR2, KCNQ1, EMD, DMD, ACTB

Drugs

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For a phenotypic description and a discussion of genetic heterogeneity of left ventricular noncompaction (LVNC), see 604169.

Mapping

In a family originally reported by Sasse-Klaassen et al. (2003), Sasse-Klaassen et al. (2004) reported linkage studies demonstrating a locus for autosomal dominant LVNC in 11p15. A peak 2-point LOD score of 5.06 was obtained with marker D11S902 at theta = 0. Haplotype analysis defined a critical interval of 6.4 centimorgans between D11S1794 and D11S928, corresponding to a physical distance of 6.8 megabases. No disease-causing mutation was identified in 2 prime positional candidate genes located in the critical region of mapping: the gene encoding muscle LIM protein (CSRP3; 600824), mutation in which causes dilated (CMD1M; 607482) and hypertrophic (CMH12; 612124) cardiomyopathy, and the gene encoding SOX6 (607257).