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Pediatr Cardiol. 2008 Jul;29(4):846-50. doi: 10.1007/s00246-007-9177-9. Epub 2008 Jan 4.

Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations.

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Department of Pediatrics, Cardiology Division, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.


We report an African American family with hypertrophic cardiomyopathy in which an individual with severe disease has alterations in two sarcomeric protein genes, cardiac beta-myosin heavy chain (MYH7) and troponin I (TNNI3). Each of her children has only one of these mutations. Although novel, the MYH7 mutation disrupts a conserved amino acid, and other missense substitutions at this position are known to cause disease. The TNNI3 alteration, replacing proline with serine (Pro82Ser), has been previously implicated in elderly-onset hypertrophic cardiomyopathy, although its pathogenicity is not clear. Proline in this position is conserved in all species, and its alteration to a serine is likely to result in a dramatic change in protein structure. We analyzed DNA from a panel of 100 healthy African Americans and found 3% carry the heterozygous TNNI3 missense allele that was identified in this family. Based on these findings, we propose that the TNNI3 Pro82Ser alteration is likely a disease-modifying mutation in a severely affected individual, and, furthermore, carriers of this alteration (3% of African Americans) might be at increased risk of late-onset cardiac hypertrophy.

[Indexed for MEDLINE]

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