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

doi:10.1016/j.jaccas.2021.05.019

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

JACC Case Rep. 2021 Sep 15;3(12):1447-1452. doi: 10.1016/j.jaccas.2021.05.019.

Authors

Sanskriti Shrivastava¹, Teresa M Kruisselbrink¹, Akanksha Mohananey¹, Brittany C Thomas¹, Sudhir S Kushwaha¹, Naveen L Pereira¹

Affiliation

¹ Department of Cardiovascular Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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.).

Keywords: PAH, pulmonary arterial hypertension; RV, right ventricle; SPS, small patella syndrome; TBX-4; TBX-4, T-box transcription factor-4; next-generation sequencing; pulmonary artery hypertension; small patella syndrome.

Publication types

Case Reports