Demographic Data |
Relation to Proband |
proband |
Age at Sampling |
34 YR |
Gender |
Female |
Age of Onset(If not a control) |
10 YR |
Age at Diagnosis(If not a control) |
29 YR |
Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
Racial Category |
White |
Country |
USA |
Diagnosed By |
No Data |
|
Data Elements |
Clinical Element Type: Hereditary Hemorrhagic Telangiectasia (HHT) |
(Baseline) |
Smoking History |
Smoking History: |
Never Previous Current |
Pack-years, if applicable: |
15 |
Family History |
Family History of HHT: |
Present Absent Unknown |
If Present, List Affected Family Members: |
FATHER, SISTER, PATERNAL GRANDFATHER, SON |
Diagnostic Criteria |
HHT Clinical Diagnosis: |
Definite Possible Uncertain Unknown |
HHT Mutation: |
endoglin alk1 smad4 unknown
|
HHT Specific Mutation: |
EXON 10, C. 1306C>T, HETEROXYGOUS, P.Q436X |
Brain AVM Present: |
Yes No Unknown |
Other AVM Present |
Pulmonary Liver Gastrointestinal Other
|
If other, please specify |
No Data |
Notes: |
No Data |
Medical History |
Hypertension |
Present Absent |
Diabetes mellitus |
Present Absent |
Atrial fibrillation |
Present Absent |
Myocardial infarction |
Present Absent |
Other Risk Factors: |
No Data |
Clinical Element Type: Cerebrovascular Disease |
(Baseline) |
Longitudinal Data |
Is this data Longitudinal (Follow-Up) Data? |
yes no |
Smoking History |
smoking history |
never former smoker current smoker |
years smoking |
15 |
Family History |
Family history of Cerebrovascular Disease |
present absent Unknown Notes: FATHER, SISTER, PATERNAL GRANDFATHER, SON HHT |
Family History of Aneurysm |
present absent Unknown |
Aneurysm Location of affected Family Member |
No Data |
Specific diagnosis |
Cerebrovascular diagnosis |
silent cerebral infarction transient ischemic attack unruptured intracranial aneurysm symptomatic ischemic stroke symptomatic intracerebral hemorrhage aneurysmal subarachnoid hemorrhage vascular cognitive impairment arteriovenous malformations (AVM) other Unaffected primary blood relative of proband Cerebral Cavernous Malformation (CCM) Hereditary Hemorrhagic Telangiectasia (HHT)
|
Prior Medical History |
Pre-existing history of dementia |
Present Absent |
Pre-hemorrhage history of ischemic stroke |
Present Absent Not Applicable |
TOAST criteria |
ischemic stroke subtype based on TOAST |
not applicable |
AVM subtype criteria |
AVM type |
unruptured ruptured not applicable |
Spetzler-Martin score |
No Data |
Size |
No Data |
AVM Location |
No Data |
Venous drainage |
No Data |
Drainage Location |
cortical subcortical/deep posterior fossa
|
Confirmation of diagnosis |
did a neurologist confirm the cerebrovascular diagnosis |
yes no |
Medical History |
hypertension |
yes no |
diabetes mellitus |
yes no |
atrial fibrillation |
yes no |
myocardial infarction |
yes no |
Other risk factors |
yes no |
Genetic Data of Subject |
Mutation/s in subject's DNA (if present, describe) |
present absent unknown Notes: ENG, EXON 10, C. 1306C>T, HETEROXYGOUS, P.Q436X |
Medical History |
Hypertension treated with medication |
yes no |
Blood pressure (at time of blood draw) |
No Data |
Other diagnosis |
Parkinson's disease |
yes no |
Alzheimer's disease |
yes no |
Epilepsy |
yes no |
Amyotrophic lateral sclerosis |
yes no |
Dementia |
yes no |
Other Neurological Diagnosis(es) |
yes no |
Optional data |
State Examination (MMSE) score |
No Data |
Neurological examination |
No Data |
Handedness |
Right Left Ambidextrous |
Montreal Cognitive Assessment(MoCA) score |
No Data |