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 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 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",

author = "Sanskriti Shrivastava and Kruisselbrink, \{Teresa M.\} and Akanksha Mohananey and Thomas, \{Brittany C.\} and Sudhir Kushwaha and Pereira, \{Naveen L.\}",

note = "Publisher Copyright: {\textcopyright} 2021 The Authors",

year = "2021",

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doi = "10.1016/j.jaccas.2021.05.019",

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AU - Shrivastava, Sanskriti

AU - Kruisselbrink, Teresa M.

AU - Mohananey, Akanksha

AU - Thomas, Brittany C.

AU - Kushwaha, Sudhir

AU - Pereira, Naveen L.

PY - 2021/9/15

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N2 - 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.)

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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UR - https://www.scopus.com/pages/publications/85122723763#tab=citedBy

U2 - 10.1016/j.jaccas.2021.05.019

DO - 10.1016/j.jaccas.2021.05.019

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JF - JACC: Case Reports

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ER -

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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