TABLE 3

Published articles on pulmonary hypertension associated with neurofibromatosis type 1

First author [ref.]	Sex	Age years	CT scan	NYHA	P_O₂ mmHg	FVC %	FEV₁ %	D_LCO %	mP_pa mmHg	CI L·min·m⁻²	PVR Wood units	Treatment	Course
Porterfield [21]	Female	56	Interstitial markings in lower lobes. bullae in apex (radio)	III	33			7	35			Calcium antagonist
Samuels [22]	Male	51	Bilateral perfusion defects	III	57	77	71	49		3.4	3.0	Endarterectomy	Improvement after surgery
Aoki [23]	Female	16	Normal	II	67	116	84	79	49	2.1	15.1	Calcium antagonist and anticoagulants	Aggravation and then treatment with i.v. prostanoids. Death 2 years after the diagnosis
	Female	70	Normal	III	48				38	2.3	12.0	Anticoagulant and isosorbide dinitrate	Aggravation and then treatment with i.v. protanoids
García Hernandez [24]	Male	44	Normal	III	30	107	110		62			i.v. prostanoids	Improvement and then death some years after diagnosis
Engel [25]	Female	60	Lung cysts and T-7 schwannoma	III		85	90	48	50	2.3	10	ERA, PDE5 inhibitor and i.v. prostanoids	Clinical improvement
Engel [25]	Female	69	Normal	III		105	119	66	60	2.3	11	PDE5 inhibitor	Clinical improvement
Stewart [26]	Female	72	Mosaic perfusion	IV		66	73		35	2.7	5.4	Calcium antagonists and i.v. prostanoids	Death from respiratory failure
	Female	56	Mild ground-glass attenuation in the upper lobes and lung cysts	III		83	76	41	68	1.6		i.v. prostanoids	Death 2 years after diagnosis from respiratory failure
	Male	68	Lung cysts						49	2.4	5.4	Calcium antagonists	Death 6 years after diagnosis from RH failure
	Female	33	Mosaic perfusion			34	38		53	1.3	24.4	ERA and PDE5 inhibitor	Death 1 year after starting treatment
Simeoni [27]	Female	51	Nodular lesions and schwannoma in the upper mediastinum	III	72				65			ERA	Stable after 2 years of treatment
Montani [28]	Female	59	Normal	III	73		104	59	48	2.0	12.0	Anticoagulants, ERA and i.v. prostanoids	Death after 6 months
	Female	63	Moderate pulmonary fibrosis with large bullae	III	58	52	45	27	52	1.9	14.4	Anticoagulants, PDE5 inhibitor, ERA and i.v. prostanoids	Death after 42 months
	Female	53	Lung cysts and interstitial infiltrate	III			109	25	47	2.7	8.0	Anticoagulants, PDE5 inhibitor, ERA and i.v. prostanoids	Death after 46 months
	Female	69	Normal	III	67		103	39	54	2.3	14.4	PDE5 inhibitor and ERA, prostanoids declined	Alive at 36 months but more severe
	Male	66	Mosaic perfusion and mild emphysema	III	69 (3 L)		104	48	43	2.1	9.3	Anticoagulants, PDE5 inhibitor and ERA	Alive at 8 months
	Female	63	Lung cysts	III	51	69	69	23	36	3.3		Anticoagulants and ERA	Alive at 18 months. On a waiting list for lung transplant
	Female	53	Lung cysts	III	79 (4 L)	83	29	NA	31	4.7		No	Alive at 3 months
	Female	61	Lung cysts and interstitial infiltrate	III	40		95	24	37	2.3	7.1	Anticoagulants, ERA, i.v. prostanoids then lung transplantation	Alive 8 months after diagnosis and 1 month after lung transplantation
Gumbiene [29]	Female	30	Mosaic perfusion	IV		115	111	55	49	2.5	15	Anticoagulants, PDE5 inhibitor and ERA	Death after 3 months
Malviya [30]	Male	34	Mosaic perfusion	II					58	2.7	19	PDE5 inhibitor and balloon atrial septostomy	Alive 8 months after diagnosis
	Male	44	Mosaic perfusion and localised fibrotic lesion	IV		74	66	44	48	1.7	26.5	ERA and PDE5 inhibitor	Alive after 15 months and improved
Tamura [31]	Female	30	NA	II					39			i.v. prostanoid then PDE5 inhibitor and ERA then sorafenib	Alive 6 years after the diagnosis
Martignac [32]	Female	64	Lung cysts, ground-glass opacities and suspect mass	III	64		72	26	62	1.9	21.4	Anticoagulants, ERA and PDE5 inhibitor	Death after 4 months
Kamdar [33]	Female	69	NA						39		23	PDE5 inhibitor and i.v. prostanoid	Improvement and alive after 12 months
Giannakoulas [34]	Female	57	Normal						84	1.9	27.1	Anticoagulants, ARE and PDE5 inhibitor then balloon atrial septostomy followed by i.v. prostanoids	Improvement and alive after 24 months
Chaddha [35]	Female	63	Lung cysts, ground-glass opacities and interlobular septal thickening	IV					60	2.1	14	PDE5 inhibitor and i.v. prostanoids (stopped after pulmonary oedema)	Pulmonary oedema under vasodilator. Death after 3 months
Küçük [36]	Female	46	Mosaic perfusion pattern	II		91	100	93	85	2.9	16	Calcium antagonists and ERA	Improvement
Poble [37]	Female	55	Lung cysts	III	68	93	104	49	41	2	19	Anticoagulants, PDE5 inhibitor and ERA	Improvement and alive after 9 months
Palot [38]	Female	55	Intrathoracic meningocele and scoliosis	IV	53	51		68	30		4.9	Noninvasive ventilation	Improvement after 1 month

CT: computed tomography; NYHA: New York Heart Association; P_O₂: oxygen tension; FVC: forced vital capacity; FEV₁: forced expiratory volume in 1 s; D_LCO: diffusing capacity of the lung for carbon monoxide; mP_pa: mean pulmonary artery pressure; CI: cardiac index; PVR: pulmonary vascular resistance; NA: not available; ERA: endothelin receptor antagonist; PDE5: phosphodiesterase-5.