Key result
A male fetus with a familial arg94his TAZ gene mutation exhibited cardiomegaly, endocardial fibroelastosis, and subendocardial vacuolization of myocytes as early as 18 weeks' gestation.
Population
1 male fetus at 18 weeks' gestation positive for a known familial arg94his TAZ gene mutation
Design
Case_report
Authors
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Earliest fetal TAZ cardiomyopathy pathology described; hypothesis-generating and should not yet change prenatal practice.
Case Report (n=1)
This case provides the earliest fetal pathologic description of a TAZ cardiomyopathy, demonstrating characteristic cardiac pathology findings as early as 18 weeks' gestation.
Brady et al. (2006) conducted a case report in X-linked fetal cardiomyopathy / TAZ gene mutation (n=1). arg94his TAZ gene mutation was evaluated on Fetal cardiac pathology findings. A male fetus with a familial arg94his TAZ gene mutation exhibited cardiomegaly, endocardial fibroelastosis, and subendocardial vacuolization of myocytes as early as 18 weeks' gestation.
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