Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study

Table 2 Cardiac and lung function of individual patients at baseline and after elosulfase alfa treatment

ID	Cardiac abnormalities at baseline^e	Ejection fraction (%)^a			Lung function^b FEV₁/FVC (%)^c
		Baseline	Elosulfase alfa treatment		Baseline	Elosulfase alfa treatment
		Baseline	Follow-up	Duration	Baseline	Follow-up	Duration
Founder pathogenic variant group
1	No	70	NT		73	NT
3	No	NA	65	6.5 years	91	91	2 years
7	No	NA	65	4.5 years	85	85	6 years
17	NA	NA	NT		NA	NT
18	No	>50	60	3 years	88	86	3 years
20	Yes	NA	67	4 years	81	88	7 years
21	Yes	75	NA		84	NA
22	NA	NA	NA		87	92	2.5 years
24	No	NA	70	6 months	NA	80	2 years
26	No	NA	61	2 years	86	82	6 years
27	No	NA	65	5 years	83	83	5 years
29	No	59	49	5 years	91	91	6.5 years
30	No	60	NA		NA
31	Yes^d	NA	70	6 months	NA	86	2 years
32	No	74	NT		NA	NT
33	No	NA	NT		86	NT
34	NA	NA	60	1 year	89	89	6 years
Non-founder pathogenic variant group
2	Yes	NA	NA		91	90	1.5 years
4	NA	NA	NA		NA	NA
5	No	NA	59	1 year	NA	NA
6	Yes	67	NA		NA	NA
8	Yes	78	82	3 years	84	100	3 years
9	Yes	70	65	3 years	79	77	3 years
11	Yes	70	65	1 year	NA	NA
12	No	55	55	3 years	NA	68	3 years
13	No	NA	NA		NA	NA
14	NA	60	NT		71	NT
15	NA	78	NT		101	NT
16	NA	69	NT		71	NT
19	Yes	NA	NA		85	86	4 years
23	No	NA	NA		NA	NA
25	Yes	62	NA		98	NA
28	Yes	NA	79	1 year	NA	92	1 year

For patients who received elosulfase alfa, the baseline measurement (closest measurement prior to, or on the day of, first treatment) was included. For other patients, the first measurement recorded is included in the table
FEV₁ forced expiratory volume in 1 s, FVC forced vital capacity, ID patient identification number, NA not available, NT no elosulfase alfa treatment
^aNormal range 55–70%
^bPulmonary abnormalities included the following: Patients 8, 9, 25, and 29 had difficulty sustaining respiratory efforts
^cNormal range ≥ 70%
^dBaseline echographic examination of subject 31 was performed 4 months after initiating elosulfase alfa
^eCardiac abnormalities included the following: Patient 2 had a mitral valve insufficiency and aortic valve stenosis; Patient 6 had a thickened aortic valve and mitral valve with trivial mitral regurgitation; Patient 8 had ascending aorta dilatation that worsened overtime; Patient 9 had atrioventricular valve sclerosis; Patient 11 had mitral valve thickening and aortic valve replacement; Patient 19 had pulmonary valve stenosis and pulmonary artery dilation; Patient 20 had mild pulmonary and tricuspid regurgitation; Patient 21 had atrioventricular valve sclerosis; Patient 25 had moderate mitral valve regurgitation and left ventricular outflow obstruction; Patient 28 had a slight reformation of the mitral valve; and Patient 31 had a bicuspid aortic valve and aortic root dilation

ISSN: 1750-1172