The etiology of cardiac hypertrophy in infants

Abstract This study aimed to describe the variety of etiologies currently identified in infants with cardiac hypertrophy (CH) and investigate whether there is a relation with hyperinsulinism, echocardiographic characteristics and prognosis. This retrospective cohort study included infants born betwe...

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Main Authors: Raymond Stegeman, Nina D. Paauw, Rosalie de Graaf, Rosa L. E. van Loon, Jacqueline U. M. Termote, Johannes M. P. J. Breur
Format: Article
Language:English
Published: Nature Portfolio 2021-05-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-021-90128-3
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author Raymond Stegeman
Nina D. Paauw
Rosalie de Graaf
Rosa L. E. van Loon
Jacqueline U. M. Termote
Johannes M. P. J. Breur
author_facet Raymond Stegeman
Nina D. Paauw
Rosalie de Graaf
Rosa L. E. van Loon
Jacqueline U. M. Termote
Johannes M. P. J. Breur
author_sort Raymond Stegeman
collection DOAJ
description Abstract This study aimed to describe the variety of etiologies currently identified in infants with cardiac hypertrophy (CH) and investigate whether there is a relation with hyperinsulinism, echocardiographic characteristics and prognosis. This retrospective cohort study included infants born between 2005 and 2018 with CH measured by echocardiography [interventricular septum (IVS) and/or left ventricular posterior wall (LVPW) thickness with Z-score ≥ 2.0]. Children with congenital heart disease or hypertension were excluded. Underlying diagnosis, echocardiographic and follow-up data were extracted from patient files. Seventy-one infants with CH were included. An underlying cause of CH was identified in two-thirds (n = 47). Most common etiologies of CH were malformation syndromes (n = 23, including Noonan n = 12) and maternal diabetes mellitus (n = 13). Less common causes were congenital hyperinsulinism (n = 3), metabolic- (n = 5), sarcomeric- (n = 2) and neuromuscular disease (n = 1). In half of the identified causes (n = 22) an association with hyperinsulinism was described, including maternal diabetes mellitus (n = 13), malformation syndromes with insulin resistance (n = 6) and congenital hyperinsulinism (n = 3). CH associated with hyperinsulinism was echocardiographically characterized by lower LVPW thickness, higher IVS:LVPW ratio and more frequent sole involvement of the IVS (all, p ≤ 0.02). CH associated with hyperinsulinism normalized more often (41 vs. 0%) with lower mortality rates (14 vs. 44%) compared to CH not associated with hyperinsulinism (all, p ≤ 0.03). Nowadays, an etiology of CH can be identified in the majority of infants. The development of CH is often associated with hyperinsulinism which is mainly characterized by focal hypertrophy of the IVS on echocardiography. Prognosis depends on the underlying cause and is more favorable in CH associated with hyperinsulinism.
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spelling doaj.art-8a59adf57ea541cf85c61b74b3c514272022-12-21T20:31:27ZengNature PortfolioScientific Reports2045-23222021-05-011111910.1038/s41598-021-90128-3The etiology of cardiac hypertrophy in infantsRaymond Stegeman0Nina D. Paauw1Rosalie de Graaf2Rosa L. E. van Loon3Jacqueline U. M. Termote4Johannes M. P. J. Breur5Department of Pediatric Cardiology, Wilhelmina Children’s Hospital, University Medical Center UtrechtDepartment of Pediatric Cardiology, Wilhelmina Children’s Hospital, University Medical Center UtrechtDepartment of Pediatric Cardiology, Wilhelmina Children’s Hospital, University Medical Center UtrechtDepartment of Genetics, University Medical Center UtrechtDepartment of Neonatology, Wilhelmina Children’s Hospital, University Medical Center UtrechtDepartment of Pediatric Cardiology, Wilhelmina Children’s Hospital, University Medical Center UtrechtAbstract This study aimed to describe the variety of etiologies currently identified in infants with cardiac hypertrophy (CH) and investigate whether there is a relation with hyperinsulinism, echocardiographic characteristics and prognosis. This retrospective cohort study included infants born between 2005 and 2018 with CH measured by echocardiography [interventricular septum (IVS) and/or left ventricular posterior wall (LVPW) thickness with Z-score ≥ 2.0]. Children with congenital heart disease or hypertension were excluded. Underlying diagnosis, echocardiographic and follow-up data were extracted from patient files. Seventy-one infants with CH were included. An underlying cause of CH was identified in two-thirds (n = 47). Most common etiologies of CH were malformation syndromes (n = 23, including Noonan n = 12) and maternal diabetes mellitus (n = 13). Less common causes were congenital hyperinsulinism (n = 3), metabolic- (n = 5), sarcomeric- (n = 2) and neuromuscular disease (n = 1). In half of the identified causes (n = 22) an association with hyperinsulinism was described, including maternal diabetes mellitus (n = 13), malformation syndromes with insulin resistance (n = 6) and congenital hyperinsulinism (n = 3). CH associated with hyperinsulinism was echocardiographically characterized by lower LVPW thickness, higher IVS:LVPW ratio and more frequent sole involvement of the IVS (all, p ≤ 0.02). CH associated with hyperinsulinism normalized more often (41 vs. 0%) with lower mortality rates (14 vs. 44%) compared to CH not associated with hyperinsulinism (all, p ≤ 0.03). Nowadays, an etiology of CH can be identified in the majority of infants. The development of CH is often associated with hyperinsulinism which is mainly characterized by focal hypertrophy of the IVS on echocardiography. Prognosis depends on the underlying cause and is more favorable in CH associated with hyperinsulinism.https://doi.org/10.1038/s41598-021-90128-3
spellingShingle Raymond Stegeman
Nina D. Paauw
Rosalie de Graaf
Rosa L. E. van Loon
Jacqueline U. M. Termote
Johannes M. P. J. Breur
The etiology of cardiac hypertrophy in infants
Scientific Reports
title The etiology of cardiac hypertrophy in infants
title_full The etiology of cardiac hypertrophy in infants
title_fullStr The etiology of cardiac hypertrophy in infants
title_full_unstemmed The etiology of cardiac hypertrophy in infants
title_short The etiology of cardiac hypertrophy in infants
title_sort etiology of cardiac hypertrophy in infants
url https://doi.org/10.1038/s41598-021-90128-3
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