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Genetic burden in neonatal and pediatric-onset pulmonary hypertension: A single-center retrospective study using

Chen Chen1, Hang Zhou2, Fang Fu2

  • 1Respiratory Department, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China; Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

Pediatrics and Neonatology
|November 14, 2024
PubMed

Insights

Trio whole-exome sequencing (trio-WES) identified genetic variants in 14 children with pulmonary hypertension. This genetic testing is valuable for diagnosing pediatric pulmonary hypertension and guiding treatment decisions.

Area of Science:

  • Genetics
  • Pediatrics
  • Cardiology

Background:

  • Pulmonary hypertension (PH) in neonates and children presents diagnostic challenges.
  • Identifying genetic factors is crucial for understanding PH etiology and progression.

Purpose of the Study:

  • To investigate genetic factors contributing to neonatal and pediatric pulmonary hypertension in a Chinese population.
  • To evaluate the diagnostic utility of trio whole-exome sequencing (trio-WES) in this cohort.

Main Methods:

  • Retrospective analysis of 51 children diagnosed with PH (20 pediatric PH, 31 persistent PH of the newborn).
  • Diagnosis confirmed by echocardiography and catheterization.
  • Trio-WES performed on patients and their parents.

Main Results:

  • Trio-WES identified 16 pathogenic/likely pathogenic variants in 10 genes in 14 patients.
  • Commonly affected genes included BMPR2, CHD7, FOXF1, and TNNI3.
  • Two patients had de novo pathogenic copy number variations.

Conclusions:

  • Trio-WES demonstrated significant diagnostic value in pediatric pulmonary hypertension.
  • The study supports the recommendation of trio-WES for diagnosing pediatric PH.
Abstract

Keywords:
BMPR2Exome sequencingFOXF1Pediatric pulmonary hypertensionTNNI3

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