Record number:
95
Adverse Occurrence type:
MPHO Type:
Alerting signals, symptoms, evidence of occurrence:
Birth of a child with hypertrophic cardiomyopathy (HCM) after donor insemination; the child died at age 2 years. This led to an investigation which found 9 genetically affected children.
Demonstration of imputability or root cause:
Definite. Donor tested positive for the heavy chain mutation. Other children were also gene positive. Three out of nine expressed phenotypic evidence of HCM (including a child who died at age 2 of heart failure and two children with extreme left ventricular hypertrophy). Other chlildren have increased risk of sudden death.
Imputability grade:
3 Definite/Certain/Proven
Keywords:
References:
Suggest references:
AAA