Dataset Information

Surgical outcome of isolated congenital supravalvular pulmonary stenosis: a case series.

ABSTRACT:

Background

Supravalvular stenosis of main pulmonary artery is a rare anomaly characterized by the presence of constriction band just above the pulmonary valve. It is mostly acquired after intervention on the pulmonary trunk or less commonly is congenital in origin associated with complex congenital cardiac malformations and very rarely can present as an isolated native congenital supravalvular pulmonary stenosis (SPS).

Case summary

We present a series of four cases of isolated congenital SPS who underwent surgical correction at our tertiary care institute over 8?years. Mean age of the patients was 2.25?±?0.96?years with all of them being males. Mean peak systolic gradient across the stenosis was 82?±?21.48?mmHg ranging from 60?mmHg to 110?mmHg. There was no early and medium-term mortality with 100% survival at mean follow-up of 31?months (range 7-85?months).

Discussion

Surgical correction of congenital SPS carries excellent early and mid-term results with almost no mortality and very low risk of re-intervention for restenosis.

SUBMITTER: Kumar V

PROVIDER: S-EPMC6601161 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature

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Publications

Surgical outcome of isolated congenital supravalvular pulmonary stenosis: a case series.

Kumar Vikas V Mahajan Sachin S Jaswal Vivek V Thingnam Shyam Kumar Singh SKS

European heart journal. Case reports 20190601 2

<h4>Background</h4>Supravalvular stenosis of main pulmonary artery is a rare anomaly characterized by the presence of constriction band just above the pulmonary valve. It is mostly acquired after intervention on the pulmonary trunk or less commonly is congenital in origin associated with complex congenital cardiac malformations and very rarely can present as an isolated native congenital supravalvular pulmonary stenosis (SPS).<h4>Case summary</h4>We present a series of four cases of isolated con ...[more]

PMID: 31449596

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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.

Dataset Information

Surgical outcome of isolated congenital supravalvular pulmonary stenosis: a case series.

Background

Case summary

Discussion

Publications

Surgical outcome of isolated congenital supravalvular pulmonary stenosis: a case series.

Similar Datasets

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