Genotypephenotype Correlation

The FHC phenotype shows wide interfamilial and intra-familial heterogeneity depending on the major gene mutation, the complexity of the genotype, and the influence of modifier genes and environmental factors. Phenotypes resulting from MYH7 mutations are usually associated with early LVH onset. Particular MYH7 mutations are associated with high SCD risk: Arg403Gln, Arg719Trp, Arg453Cys, and Arg723Gly. The Gly256Glu, Val606Met, or Leu908Val MYH7 mutations have a good prognosis in regard to arrhythmic events.[23] Mutations in MYBPC3 correlate with mild hypertrophy in young patients, late onset of symptoms, and good prognosis before the age of 40 years.[24] Minimal LVH is found in TNNT2 mutations, but can be associated with high SCD risk.[25] Studies of MYBPC3 and TNNT2 mutations have shown incomplete penetrance and disease expression in adult patients, often associated with minimal or absent LVH.

Five percent of families present individuals with a complex genetic status as homozygotes, double heterozygotes, or compound heterozygotes.1-9-1 Compound and double heterozygotes for mutations in MYBPC3 and MYH7 develop a higher degree of LVH compared with single heterozygotes. Homozygotes for a mutation in

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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