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. 2025 Mar 31;11(2):00760-2024.
doi: 10.1183/23120541.00760-2024. eCollection 2025 Mar.

Implementing pulmonary arterial hypertension screening among TBX4 mutation carriers: a timely endeavour

David Montani  1   2   3 , Julien Grynblat  1   2   3   4 , Florence Coulet  5 , Damien Bonnet  4 , Antoine Beurnier  1   3   6 , Marc Humbert  1   2   3
Affiliations

Implementing pulmonary arterial hypertension screening among TBX4 mutation carriers: a timely endeavour

David Montani et al. ERJ Open Res. .

Abstract

Systematic genetic counselling for TBX4 carriers and their relatives enables screening for small patella syndrome and early diagnosis of pulmonary arterial hypertension https://bit.ly/4eKaPzY.

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Conflict of interest statement

Conflict of interest: D. Montani reports grants from Acceleron, Janssen and Merck MSD; consulting fees from Acceleron, Merck MSD, Janssen and Ferrer; and payment or honoraria for lectures, presentations, manuscript writing or educational events from Bayer, Janssen, Boerhinger, Chiesi, GSK, Ferrer and Merck MSD. D. Montani is an associate editor of this journal. D. Bonnet reports consulting fees from Jansen and Merck; and participation on a data safety monitoring board or advisory board with Lupin. M. Humbert reports grants from Acceleron, AOP Orphan, Janssen, Merck and Shou Ti; consulting fees from Acceleron, Aerovate, Altavant, AOP Orphan, Bayer, Chiesi, Ferrer, Janssen, Merck, MorphogenIX, Shou Ti and United Therapeutics; payment or honoraria for lectures, presentations, manuscript writing or educational events from Janssen and Merck; and participation on a data safety monitoring board or advisory board with Acceleron, Altavant, Janssen, Merck and United Therapeutics. The remaining authors have nothing to disclose.

Figures

FIGURE 1
FIGURE 1
a) Characteristics of TBX4 carriers. b) Family tree of all the PH cases and TBX4 carriers and their different mode of presentation. The arrow points at the index case. The green squares represent a patient with small patella syndrome. The black square represents a pulmonary arterial hypertension case. The grey square represents the mother of the index case who developed a respiratory disease associated with PH. c) Assessment among patients with TBX4 pathogenic or likely pathogenic variant. PAH: pulmonary arterial hypertension; NYHA-FC: New York Heart Association functional class; TRV: tricuspid regurgitation velocity; TAPSE: tricuspid annular plane systolic excursion; 6MWD: 6-min walk distance; BNP: brain natriuretic peptide; NT-proBNP: N-terminal pro-brain natriuretic peptide; mPAP: mean pulmonary arterial pressure; PAWP: pulmonary arterial wedge pressure; PVR: pulmonary vascular resistance; FEV1: forced expiratory volume in 1 s; FVC: forced vital capacity; TLC: total lung capacity; DLCO: diffusing capacity of the lung for carbon monoxide; ERA: endothelin receptor antagonist; PDE5i: phosphodiesterase type 5 inhibitor; LTx: lung transplant; PH: pulmonary hypertension; CPET: cardiopulmonary exercise testing; CT: computed tomography.
See this image and copyright information in PMC

References

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