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

ABSTRACT: 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.

SUBMITTER: Vincent M

PROVIDER: S-EPMC5364588 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature

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

Vincent Marie M Benbrik Nadir N Romefort Bénédicte B Colombel Agnès A Bézieau Stéphane S Isidor Bertrand B

Journal of medical case reports 20170324 1

<h4>Background</h4>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.<h4>Case presentation</h4>The first patient was a 39-week-old girl, the second patient was a 39-week-old girl, ...[more]

PMID: 28335811

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Project description:BackgroundA series of studies showed that endocardial radiofrequency ablation (ERFA) could reduce the left ventricular outflow tract (LVOT) gradient in patients with septal hypertrophy. This study aimed to determine the safety and efficacy of a modified ERFA approach guided by transthoracic echocardiography (TTE) as an alternative to ablation performed under a three-dimensional (3D) electroanatomical system or intracardiac echocardiography (ICE).MethodsTwenty-five patients with hypertrophic obstructive cardiomyopathy (HOCM) underwent ERFA of septal hypertrophy, guided by echocardiography. The LVOT gradient, left ventricular ejection fraction (LVEF), LV thickness, New York Heart Association (NYHA) class, and biochemical laboratory values were recorded before ablation and during follow-up.ResultsThe patients' peak and stress-induced LVOT gradients were significantly reduced after 12 months of follow-up (resting gradient: from 123.2±17.7 to 15.7±7.8 mmHg, P<0.05; provocative gradient: from 140.2±20.8 to 18.4±8.0 mmHg, P<0.05). Compared with baseline, the septal diameter was reduced slightly after 12 months, but the difference was not significant (24.8±3.5 vs. 24.2±3.4 mm, P>0.05). The reduction in LVOT gradient was associated with an improvement in NYHA functional classification (from 3.0±0.0 to 1.6±0.7, P<0.05), the 6-minute walking distance (413±129 m at baseline; 458±108 m immediately after ERFA; 471±139 m after 12 months, P<0.05), and pro B-type natriuretic peptide levels (from 924.00±139 to 137.45 ±75.73 pg/mL, P<0.05). After the procedure, the patients showed no worsening of LVEF compared with baseline (64%±5.3%), and no cases of bundle branch block nor complete heart block occurred.ConclusionsERFA guided by TTE provides a new treatment option for HOCM which can achieve symptomatic improvement as well as a significant and sustained reduction of the LVOT gradient. Moreover, by avoiding the use of the 3D electroanatomical system or ICE, this treatment has an acceptable cost.

Project description:IntroductionCongenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell's function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause of the disease that account for approximately 40% of cases. Less frequently KCNJ11 gene mutations are responsible for the disease. Mutations in other genes such as HADH account for smaller fractions of cases. In nearly half of the cases the cause remains unknown.Case presentationDuring the period between 2005 and 2010, a total of six patients with persistent hyperinsulinism were investigated at Mofid Children's Hospital. In this study all of the patients had early onset hyperinsulinemia. Five patients had consanguineous parents. After failure of medical treatment in three patients, They were undergone pancreatectomy. Two diffuse types and one focal type had been recognized in pathological analysis of intra-operative frozen specimens of pancreas in these patients. Genetic analysis was performed using polymerase chain reaction followed by Sanger sequencing for ABCC8, KCNJ11and HADH genes. In five patients homozygous mutations in these genes were identified that indicated an autosomal recessive pattern of inheritance. In one patient a heterozygous mutation in ABCC8 was identified, indicating possible autosomal dominant inheritance of the disease.ConclusionsCongenital hyperinsulinism can have different inheritance pattern. Autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. It appears that mutations in ABCC8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. PCR followed by Sanger sequencing proved to be an efficient method for mutation detection in three investigated genes. Despite early diagnosis, psychomotor retardation was seen in two patients.

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

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

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