Key result
Compound heterozygous truncating mutations in the MYBPC3 gene were identified in two neonates with severe unexplained hypertrophic cardiomyopathy who died within the first weeks of life.
Population
n=2 neonates with severe unexplained hypertrophic cardiomyopathy (HCM) who died within the first weeks of life
Design
Case_series
Follow-up
within the first weeks of life
Authors
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May indicate MYBPC3 compound heterozygosity as a cause of fatal neonatal HCM; hypothesis-generating and requires validation in larger cohorts.
Case Report (n=2)
Compound heterozygous truncating mutations in the MYBPC3 gene can cause severe, fatal neonatal hypertrophic cardiomyopathy.
Deprez et al. (2006) conducted a case report in Severe unexplained hypertrophic cardiomyopathy (n=2). Compound heterozygous mutations in the MYBPC3 gene was evaluated on Presence of mutations in the MYBPC3 gene. Compound heterozygous truncating mutations in the MYBPC3 gene were identified in two neonates with severe unexplained hypertrophic cardiomyopathy who died within the first weeks of life.
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