Implementing pulmonary arterial hypertension screening amongTBX4mutation carriers: a timely endeavour

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  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:…