Title :

Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation

Author(s) :

Thoré, Pierre [Auteur]
Service de Pneumologie [CHRU Nancy]
Girerd, Barbara [Auteur]
Pôle des Cardiopathies Congénitales du Nouveau-Né à L'adulte - Centre Constitutif Cardiopathies Congénitales Complexes M3C, Groupe Hospitalier Paris Saint-Joseph, Hôpital Marie-Lannelongue, Inserm U999, Université Paris-Saclay
Jaïs, Xavier [Auteur]
Pôle des Cardiopathies Congénitales du Nouveau-Né à L'adulte - Centre Constitutif Cardiopathies Congénitales Complexes M3C, Groupe Hospitalier Paris Saint-Joseph, Hôpital Marie-Lannelongue, Inserm U999, Université Paris-Saclay
Savale, Laurent [Auteur]
Pôle des Cardiopathies Congénitales du Nouveau-Né à L'adulte - Centre Constitutif Cardiopathies Congénitales Complexes M3C, Groupe Hospitalier Paris Saint-Joseph, Hôpital Marie-Lannelongue, Inserm U999, Université Paris-Saclay
Ghigna, Maria-Rosa [Auteur]
Pôle des Cardiopathies Congénitales du Nouveau-Né à L'adulte - Centre Constitutif Cardiopathies Congénitales Complexes M3C, Groupe Hospitalier Paris Saint-Joseph, Hôpital Marie-Lannelongue, Inserm U999, Université Paris-Saclay
Eyries, Mélanie [Auteur]
CHU Pitié-Salpêtrière [AP-HP]
Levy, Marilyne [Auteur]
Hôpital Necker - Enfants Malades [AP-HP]
Ovaert, Caroline [Auteur]
Hôpital de la Timone [CHU - APHM] [TIMONE]
Servettaz, Amélie [Auteur]
Hôpital universitaire Robert Debré [Reims] [CHU Reims]
Guillaumot, Anne [Auteur]
Centre Hospitalier Régional Universitaire de Nancy [CHRU Nancy]
Dauphin, Claire [Auteur]
CHU Gabriel Montpied [Clermont-Ferrand]
Chabanne, Céline [Auteur]
Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Pontchaillou]
Boiffard, Emmanuel [Auteur]
Centre Hospitalier Départemental - Hôpital de La Roche-sur-Yon [CHD Vendée]
Cottin, Vincent [Auteur]
Centre de Référence des Maladies Pulmonaires Rares [Hôpital Louis Pradel - HCL]
Perros, Frédéric [Auteur]
Pôle des Cardiopathies Congénitales du Nouveau-Né à L'adulte - Centre Constitutif Cardiopathies Congénitales Complexes M3C, Groupe Hospitalier Paris Saint-Joseph, Hôpital Marie-Lannelongue, Inserm U999, Université Paris-Saclay
Hôpital Bicêtre [AP-HP, Le Kremlin-Bicêtre]
Simonneau, Gérald [Auteur]
Sitbon, Olivier [Auteur]
Pôle des Cardiopathies Congénitales du Nouveau-Né à L'adulte - Centre Constitutif Cardiopathies Congénitales Complexes M3C, Groupe Hospitalier Paris Saint-Joseph, Hôpital Marie-Lannelongue, Inserm U999, Université Paris-Saclay
Hôpital Bicêtre [AP-HP, Le Kremlin-Bicêtre]
Soubrier, Florent [Auteur]
Centre Chirurgical Marie Lannelongue [CCML]
Bonnet, Damien [Auteur]
Hôpital Necker - Enfants Malades [AP-HP]
Remy, Martine [Auteur]
METRICS : Evaluation des technologies de santé et des pratiques médicales - ULR 2694
Chaouat, Ari [Auteur]
Centre Hospitalier Régional Universitaire de Nancy [CHRU Nancy]
Humbert, Marc [Auteur]
Pôle des Cardiopathies Congénitales du Nouveau-Né à L'adulte - Centre Constitutif Cardiopathies Congénitales Complexes M3C, Groupe Hospitalier Paris Saint-Joseph, Hôpital Marie-Lannelongue, Inserm U999, Université Paris-Saclay
Hôpital Bicêtre [AP-HP, Le Kremlin-Bicêtre]
Montani, David [Auteur]
Pôle des Cardiopathies Congénitales du Nouveau-Né à L'adulte - Centre Constitutif Cardiopathies Congénitales Complexes M3C, Groupe Hospitalier Paris Saint-Joseph, Hôpital Marie-Lannelongue, Inserm U999, Université Paris-Saclay

Journal title :

European Respiratory Journal

Abbreviated title :

Eur. Respir. J.

Volume number :

55

Publication date :

2020-02-29

ISSN :

1399-3003

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Introduction TBX4 mutation causes small patella syndrome (SPS) and/or pulmonary arterial hypertension (PAH). The characteristics and outcomes of PAH associated with TBX4 mutations are largely unknown. Methods We report ...
Show more >Introduction TBX4 mutation causes small patella syndrome (SPS) and/or pulmonary arterial hypertension (PAH). The characteristics and outcomes of PAH associated with TBX4 mutations are largely unknown. Methods We report the clinical, functional, radiologic, histologic and haemodynamic characteristics and outcomes of heritable PAH patients carrying a TBX4 mutation from the French pulmonary hypertension (PH) network. Results 20 patients were identified in 17 families. They were characterised by a median age at diagnosis of 29 years (0–76 years) and a female to male ratio of three. Most of the patients (70%) were in New York Heart Association (NYHA) functional class III or IV with a severe haemodynamic impairment (median pulmonary vascular resistance (PVR) of 13.6 (6.2–41.8) Wood units). Skeletal signs of SPS were present in 80% of cases. Half of the patients had mild restrictive or obstructive limitation and diffusing capacity of the lung for carbon monoxide (DLCO) was decreased in all patients. High-resolution computed tomography (HRCT) showed bronchial abnormalities, peri-bronchial cysts, mosaic distribution and mediastinal lymphadenopathies. PAH therapy was associated with significant clinical improvement. At follow-up (median 76 months), two patients had died and two had undergone lung transplantation. One-year, three-year and five-year event-free survival rates were 100%, 94% and 83%, respectively. Histologic examination of explanted lungs revealed alveolar growth abnormalities, major pulmonary vascular remodelling similar to that observed in idiopathic pulmonary arterial hypertension (IPAH) and accumulation of cholesterol crystals within the lung parenchyma. Conclusion PAH due to TBX4 mutations may occur with or without skeletal abnormalities across a broad age range from birth to late adulthood. PAH is usually severe and associated with bronchial and parenchymal abnormalities.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
CHU Lille

Collections :

• METRICS : Evaluation des technologies de santé et des pratiques médicales - ULR 2694

Submission date :

2023-11-15T09:19:03Z
2024-01-11T14:39:45Z