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[Pseudo-inherited form of left heart obstructive defects revealing maternal phenylketonuria]
1Service de cardiologie pédiatrique, hôpital Necker-Enfants malades, Paris.
Insights
Maternal phenylketonuria can cause heart defects and microcephaly in offspring. Identifying maternal hyperphenylalaninemia is crucial for recurrent malformations not explained by genetic conditions.
Area of Science:
- Genetics
- Developmental Biology
- Maternal Health
Background:
- Phenylketonuria (PKU) in mothers, if unmanaged, can lead to adverse fetal outcomes.
- Maternal PKU can cause intrauterine growth retardation, microcephaly, and congenital malformations in offspring.
Observation:
- Two families presented with recurrent left heart malformations and microcephaly.
- These cases mimicked Mendelian inheritance patterns but were linked to maternal phenylketonuria.
Findings:
- Maternal hyperphenylalaninemia is a significant teratogen.
- It can manifest as recurrent heart malformations with extra-cardiac defects, including microcephaly and intrauterine growth retardation.
Implications:
- Consider maternal hyperphenylalaninemia in cases of recurrent fetal malformations, especially with microcephaly or growth retardation.
- This highlights the importance of maternal metabolic health screening for preventing congenital anomalies.
Abstract:
If an adequate diet is not given to mothers with phenylketonuria, their offsprings often exhibit intra-uterine growth retardation with associated microcephaly and various malformations. Here, we report two families in whom we observed recurrent left heart malformations associated with microcephaly masquerading as a mendelian condition and revealing a maternal phenylketonuria. These observations suggest that when confronted to recurrent heart malformations with extra-cardiac defects that are not due either to an inherited chromosomal anomaly or to a well characterized mendelian disease, a maternal teratogen should be identified and more particularly maternal hyperphenylalaninemia if an intra-uterine growth retardation or a microcephaly is part of the syndrome.