The online version of this article (doi:10.1186/s13256-017-1231-5) contains supplementary material, which is available to authorized users.
Macrosomia and hypertrophic cardiomyopathy are two features often associated in neonates of diabetic mothers. We report the cases of three patients with severe macrosomia and critical hypertrophic cardiomyopathy without severely unbalanced maternal diabetes. Only three patients with those two features and no uncontrolled maternal diabetes have been previously reported.
The first patient was a 39-week-old girl, the second patient was a 39-week-old girl, and the third patient was a 41-week-old boy. The two French girls and the French boy had severe macrosomia and hypertrophic cardiomyopathy, leading to the death of the boy. The outcome of the two girls was favorable, with a standardization of growth curves and ventricular hypertrophy. Their mothers presented with high body mass index but no severe documented maternal diabetes; glycemic imbalance was only suspected on postnatal analyses. There was no hydramnios during pregnancy and no other environmental factor, especially toxic exposure. Their parents are from Mayotte, Guadeloupe, and Guinea-Conakry. The usual genetics causes, Beckwith–Wiedemann syndrome, and chromosomal copy number variation, were also excluded.
This report suggests the implication of other factors in addition to glycemic disorders, including genetic factors, in the occurrence of macrosomia and severe hypertrophic cardiomyopathy in neonates. These three original observations indicate that gynecologists and neonatologists should pay attention to neonates from mothers with a high body mass index and when maternal diabetes is not documented.
Additional file 1: Table S1. Mothers’ oral glucose tolerance test (OGTT) of patients 1, 2, and 3. (XLS 20 kb)13256_2017_1231_MOESM1_ESM.xls
Sardesai MG, Gray AA, McGrath MM, Ford SE. Fatal hypertrophic cardiomyopathy in the fetus of a woman with diabetes. Obstet Gynecol. 2001;98(5 Pt 2):925–7. PubMed
Robinson B, Eshaghpour E, Ewing S, Baumgart S. Hypertrophic obstructive cardiomyopathy in an infant of a diabetic mother: support by extracorporeal membrane oxygenation and treatment with beta-adrenergic blockade and increased intravenous fluid administration. ASAIO J. 1998;44(6):845–7. CrossRefPubMed
Ali MM, Brown M, Karnitis VJ. Third trimester insulin levels are not correlated with fetal macrosomia or delivery complications. J Reprod Med. 2014;59(5-6):293–8. PubMed
- Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series
- BioMed Central