Publications by authors named "Amber Ummels"
Article Synopsis
- Titin variants (TTNtv) are a common genetic cause of dilated cardiomyopathy, found in about 25% of family cases and 0.5% of the general population, but their effects on asymptomatic carriers are not well understood.
- A study analyzed the mortality rates of individuals at risk for TTNtv and their relatives by comparing them to the general Dutch population, using detailed genealogical methods.
- Results indicated that while overall mortality for TTNtv carriers was not significantly higher, there was a notable increase in mortality for those born after 1965 and those aged 60 and older, suggesting that TTNtv may lead to greater health issues as life expectancy increases.
We present 2 cases with multiple de novo supernumerary marker chromosomes (sSMCs), each derived from a different chromosome. In a prenatal case, we found mosaicism for an sSMC(4), sSMC(6), sSMC(9), sSMC(14) and sSMC(22), while a postnatal case had an sSMC(4), sSMC(8) and an sSMC(11). SNP-marker segregation indicated that the sSMC(4) resulted from a maternal meiosis II error in the prenatal case.
View Article and Find Full Text PDFBackground: Interpretation of genetic screening results in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) often is difficult. Pathogenicity of variants with uncertain clinical significance may be predicted by software algorithms. However, functional assessment can unambiguously demonstrate the effect of such variants.
View Article and Find Full Text PDFObjectives: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by fibrofatty replacement of cardiomyocytes. In around 50% of index patients, a genetic predisposition is demonstrated. The purpose of this study was to examine a plakophilin-2 (PKP2) splice site mutation, c.
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