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Table 1 Baseline characteristics

From: High output cardiac failure in 3 patients with hereditary hemorrhagic telangiectasia and hepatic vascular malformations, evaluation of treatment

 

Patient 1a

Patient 2a

Patient 3

Age (years)

65

80

66

Sex

Female

Female

Female

HHT-type

2

2

VUSd

Gene mutation

ACVLR-1-c.1022A>T

ACVLR-1-c.1022A>T

ACVLR-1-c.941A>Cb

Height (cm)

161

163

160

Weight (kg)

53

60

47

Body Mass Index

21

23

18

PAVM

Yesc

No

No

GI-AVM

Yes

Yes

No

Epistaxis

Yes, mild

Yes, mild

Yes, severe

  1. aPatients are related
  2. bNot formerly known to be pathogenic
  3. c5 cm in diameter, embolized in 2009
  4. dHaving a variant of unknown significance in the ACVRL1 gene, means that we found a mutation but we do not know if it is a disease causing mutation or just a polymorphic variant. The conclusion for this patient is that the patient has HHT based on the clinical Curaçao criteria, but we cannot say for sure she has HHT type two
  5. ACVLR-1 activin receptor-like kinase 1, VUS variance of unknown significance, PAVM pulmonary arteriovenous malformation, GI-AVM gastrointestinal-AVM