The hypertensive neonate

Flynn, Joseph T.

doi:10.1016/j.siny.2020.101138

Cited by 6 publications

(8 citation statements)

References 80 publications

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“…with normal weight, size and head circumference. Before postnatal day 10, the child developed polypnea associated with heart failure and systemic hypertension (systolic blood pressure: 128 mm Hg, above the 99th percentile) 2. Echocardiography, renal ultrasound with Doppler and renal angiography were normal.…”

Section: Resultsmentioning

confidence: 99%

“…In addition, in isolated increased NT with normal karyotype, aCGH and RASopathy-associated genes, arterial pressure should be carefully followed in postnatal period, and systemic hypertension should lead to NPR1 genetic investigation. The benefits of an accurate genetic diagnosis include more tailored management of systemic hypertension, heart involvement and improved surveillance 2 21. A precise genetic diagnosis enables an accurate genetic information to the affected individuals and their family members.…”

Section: Discussionmentioning

confidence: 99%

“…Incidence of neonatal systemic hypertension (NSH) is around 1% 1. There are many causes of NSH including either acquired or congenital causes 2. The most common renovascular abnormality associated with systemic hypertension in neonates is thrombus formation secondary to umbilical artery catheter placement.…”

Section: Introductionmentioning

confidence: 99%

“…Both autosomal dominant and recessive polycystic kidney diseases, tuberous sclerosis and Wilms tumour may present with NSH. Bronchopulmonary dysplasia (BPD)-associated NSH is reported with an incidence of 43% of infants with BPD 2. Coarctation of the aorta may be detected in the neonate and has been frequently implicated as a cause of NSH.…”

Section: Introductionmentioning

confidence: 99%

“… 1 There are many causes of NSH including either acquired or congenital causes. 2 The most common renovascular abnormality associated with systemic hypertension in neonates is thrombus formation secondary to umbilical artery catheter placement. Congenital causes of NSH are usually associated with other organ involvement with autosomal dominant or recessive inheritances.…”

Section: Introductionmentioning

confidence: 99%

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BiallelicNPR1loss of function variants are responsible for neonatal systemic hypertension

et al. 2023

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BackgroundEarly-onset isolated systemic hypertension is a rare condition of unknown genetic origin. Renovascular, renal parenchymal diseases or aortic coarctation are the most common causes of secondary systemic hypertension in younger children and neonates. We investigated the genetic bases of early-onset isolated systemic hypertension.MethodsWhole-exome sequencing (WES) was followed by variant filtering and Sanger sequencing for validation and familial segregation of selected variants in a large consanguineous family. mRNA expression was performed to evaluate the impact of the predicted pathogenic variant on gene expression. WES or Sanger sequencing was performed in additional unrelated affected individuals.ResultsIn one consanguineous family with four children presenting with isolated neonatal-onset systemic hypertension, we identified homozygous stop–gain variant in theNPR1gene (NM_000906.4:c.1159C>T (p.Arg387Ter)) in the affected individuals. This variant leads to a dramatic reduction of NPR1 RNA levels.NPR1gene analysis of additional families allowed the identification of another family with two affected children carrying homozygous frameshift variant inNPR1(NM_000906.4:c.175del (p.Val59TrpfsTer8)).ConclusionWe show for the first time that biallelic loss of function ofNPR1is responsible for isolated neonatal-onset systemic hypertension in humans, which represents a new autosomal recessive genetic cause of infantile systemic hypertension or cardiogenic shock. This is consistent with studies reporting early-onset systemic hypertension and sudden death in Npr1-deficient mice.NPR1gene analysis should be therefore investigated in infants with early-onset systemic hypertension with or without cardiogenic shock of unknown origin.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%