Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man

Sanskriti Shrivastava, Teresa M. Kruisselbrink, Akanksha Mohananey, Brittany C. Thomas, Sudhir S. Kushwaha, Naveen L. Pereira

Research output: Contribution to journalArticlepeer-review

Abstract

Small patella syndrome presents with small or absent patellae and may result in pulmonary arterial hypertension, typically in children. A pathogenic canonical splice site variant, c.1021+1G>A in the T-box transcription factor 4 (TBX4) gene, currently not included in commercial gene panel, was detected in an adult with pulmonary arterial hypertension and absent patellae. (Level of Difficulty: Advanced.)

Original languageEnglish (US)
Pages (from-to)1447-1452
Number of pages6
JournalJACC: Case Reports
Volume3
Issue number12
DOIs
StatePublished - Sep 15 2021

Keywords

  • next-generation sequencing
  • pulmonary artery hypertension
  • small patella syndrome
  • TBX-4

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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