Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series.
BACKGROUND
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.


METHODS
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.


CONCLUSIONS
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.
Service de Génétique Médicale, Hôpital Hôtel-Dieu, CHU de Nantes, 1 place Alexis Ricordeau, 44093, Nantes, France. marie.vincent@chu-nantes.fr.
Marie
http://orcid.org/0000-0003-1010-5618
M
Vincent
Service de Cardiologie pédiatrique, Hôpital Mère-Enfant, CHU de Nantes, 38, boulevard Jean-Monnet, 44093, Nantes, France.
Nadir
N
Benbrik
Service de Cardiologie pédiatrique, Hôpital Mère-Enfant, CHU de Nantes, 38, boulevard Jean-Monnet, 44093, Nantes, France.
Bénédicte
B
Romefort
Service de Biologie de la Reproduction, Hôpital Mère-Enfant, CHU de Nantes, 38, boulevard Jean-Monnet, 44093, Nantes, France.
Agnès
A
Colombel
Service de Génétique Médicale, Hôpital Hôtel-Dieu, CHU de Nantes, 1 place Alexis Ricordeau, 44093, Nantes, France.
Stéphane
S
Bézieau
Service de Génétique Médicale, Hôpital Hôtel-Dieu, CHU de Nantes, 1 place Alexis Ricordeau, 44093, Nantes, France.
Bertrand
B
Isidor
D000328:Adult; D001724:Birth Weight; D015992:Body Mass Index; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000196:embryology / Q000503:physiopathology; D056915:DNA Copy Number Variations; D016640:Diabetes, Gestational / Q000097:blood / Q000503:physiopathology*; D005260:Female; D005320:Fetal Macrosomia / Q000175:diagnosis* / Q000503:physiopathology; D005323:Fetal Monitoring; D005951:Glucose Tolerance Test; D006801:Humans; D007003:Hypoglycemia / Q000150:complications*; D007223:Infant; D008297:Male; D009035:Mothers; D011247:Pregnancy; D011256:Pregnancy Outcome; D011254:Pregnancy in Diabetics / Q000097:blood / Q000503:physiopathology*
Case report; Genetic; Hypertrophic cardiomyopathy; Macrosomia; Maternal diabetes