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Table 3 Clinical phenotypes of FBLN2 and PDGFD variant carriers. Sex ratios and mean ± SD diagnostic age and hemodynamic values have been calculated separately for FBLN2 and PDGFD variant carriers

From: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Case ID Sex Agedx (years) PAH subclass Ancestry Gene MPAP (mmHg) MPCWP (mmHg) WHO functional class Lung tx Other medical conditions
08-018 F 70 IPAH EUR FBLN2 58 14 III No HTN, kidney congenital anomaly, Paget’s disease
17-035 F 41 APAH (MCTD) EAS FBLN2 43 16 III No  
12-207* F 44 IPAH EUR FBLN2 NA NA NA No HTN, hypothyroidism
23-001 M 66 IPAH EUR FBLN2 68 10 III No HTN, OLD (smoker)
29-031 F 57 IPAH EUR FBLN2 84 15 NA No HTN, mitral valve disease, hypothyroidism, OA, COPD
34-005* M 69 IPAH EUR FBLN2 43 14 NA No HTN, CAD
W000210 F 52 IPAH EUR FBLN2 75 11 II No Hyposplenism
Mean ± SD 2.5:1 53 ± 11     62 ± 17 13 ± 2    
W000073* F 40 IPAH AFR PDGFD 73 NA III No PFO, bilateral chronic subdural hematoma, hypothyroidism
JM930 F 2 IPAH EUR PDGFD 39 NA NA No Bronchopulmonary dysplasia
E012465 F 55 IPAH EUR PDGFD 52 7 III No Hypothyroidism, IBS, major depression
E014342* F 40 IPAH EUR PDGFD 57 7 III No Emphysema
E014400 F 43 IPAH EUR PDGFD 57 4 III No Obesity, T2DM
E000844 F 39 IPAH EUR PDGFD 51 9 III No GERD, asthma, bicornate uterus
13-037 M 43 DTOX EUR PDGFD 47 7 II No None
23-025* F 41 IPAH EUR PDGFD 64 NA III No Hypothyroidism
E000820 F 73 IPAH EUR PDGFD 48 9 II No Fatty liver, hypothyroidism, ductal carcinoma, gallstones, superior vena cava and azygos vein thrombosis related to port-a-cath
E010173 F 74 IPAH EUR PDGFD 32 9 III No MPVD, PVD, obesity, T2DM, HTN, chronic renal impairment, hypothyroidism, OA, hypouricemia, major depression
Mean ± SD 9:1** 50 ± 14     53 ± 12 11 ± 10    
  1. *Cases with risk variants in additional PAH risk genes: 12-207 (ABCC8 and GGCX), 34-005 (GGCX), W000073 (TBX4), E014342 (BMPR2), 23-025 (ENG)
  2. **NS, Fisher’s exact test
  3. Abbreviations: CAD, coronary artery disease; COPD, chronic obstructive pulmonary disease; GERD, gastrooesophageal reflux disease; HTN, systemic hypertension; IBS, irritable bowel syndrome; MCTD, mixed connective tissue disease; MPVD, mixed pulmonary valve disease; OA, osteoarthritis; OLD, obstructive lung disease; PFO, patent foramen ovale; PVD, peripheral vascular disease; T2DM, type 2 diabetes mellitus
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Genome Medicine

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