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

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

Cardiovascular Medicine

Research output: Contribution to journal › Article › peer-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 language	English (US)
Pages (from-to)	1447-1452
Number of pages	6
Journal	JACC: Case Reports
Volume	3
Issue number	12
DOIs	https://doi.org/10.1016/j.jaccas.2021.05.019
State	Published - Sep 15 2021

Keywords

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

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

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10.1016/j.jaccas.2021.05.019

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title = "Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man",

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 = "TBX-4, next-generation sequencing, pulmonary artery hypertension, small patella syndrome",

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AU - Kruisselbrink, Teresa M.

AU - Mohananey, Akanksha

AU - Thomas, Brittany C.

AU - Kushwaha, Sudhir S.

AU - Pereira, Naveen L.

PY - 2021/9/15

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AB - 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.)

KW - TBX-4

KW - next-generation sequencing

KW - pulmonary artery hypertension

KW - small patella syndrome

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

Abstract

Keywords

ASJC Scopus subject areas

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