Skip to main content
main-content

01.12.2017 | Case report | Ausgabe 1/2017 Open Access

Journal of Medical Case Reports 1/2017

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

Zeitschrift:
Journal of Medical Case Reports > Ausgabe 1/2017
Autoren:
Marie Vincent, Nadir Benbrik, Bénédicte Romefort, Agnès Colombel, Stéphane Bézieau, Bertrand Isidor
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​s13256-017-1231-5) contains supplementary material, which is available to authorized users.

Abstract

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.

Case presentation

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.

Unsere Produktempfehlungen

e.Med Interdisziplinär

Kombi-Abonnement

Mit e.Med Interdisziplinär erhalten Sie Zugang zu allen CME-Fortbildungen und Fachzeitschriften auf SpringerMedizin.de. Zusätzlich können Sie eine Zeitschrift Ihrer Wahl in gedruckter Form beziehen – ohne Aufpreis.

e.Med Allgemeinmedizin

Kombi-Abonnement

Mit e.Med Allgemeinmedizin erhalten Sie Zugang zu allen CME-Fortbildungen und Premium-Inhalten der allgemeinmedizinischen Zeitschriften, inklusive einer gedruckten Allgemeinmedizin-Zeitschrift Ihrer Wahl.

Zusatzmaterial
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
Literatur
Über diesen Artikel

Weitere Artikel der Ausgabe 1/2017

Journal of Medical Case Reports 1/2017 Zur Ausgabe