| Demographic Data |
| Relation to Proband |
daughter |
| Age at Sampling |
14 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
12 YR |
| Age at Diagnosis(If not a control) |
12 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Hispanic/Latino |
| Racial Category |
More than one race |
| 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: |
No Data |
| Family History |
| Family History of HHT: |
Present Absent Unknown |
| If Present, List Affected Family Members: |
MOTHER, MATERNAL GRANDMOTHER, BROTHER |
| Diagnostic Criteria |
| HHT Clinical Diagnosis: |
Definite Possible Uncertain Unknown |
| HHT Mutation: |
endoglin
alk1
smad4
unknown
|
| HHT Specific Mutation: |
HETEROZYGOUS FOR THE EX9_10DEL PATHOGENIC MUTATION IN THE ENG GENE. |
| 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 |
No Data |
| Family History |
| Family history of Cerebrovascular Disease |
present absent Unknown
Notes: MOTHER, MATERNAL GRANDMOTHER, BROTHER HAVE 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 |
No Data |
| 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: HETEROZYGOUS FOR THE EX9_10DEL PATHOGENIC MUTATION IN THE ENG GENE. |
| 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 |
No Data |
| Montreal Cognitive Assessment(MoCA) score |
No Data |