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SR G > Vascular > Flashcards

Vascular Flashcards

1
Q

PHACES

A

Unknown aetiology, sporadic
F predominance
Birth or few weeks of life

Criteria
IH face/scalp >5cm diameter PLUS 1M
Or if off face then 2M

P - posterior fossa and other brain anomalies - dandy walker malformation, cerebellar hypoplasia

Haemangioma - IH, at least 5cm, predilection V1, commoner left side. Commonly ulcerated, larger inc CNS

Arterial anomalies - hypoplasia, dysplasia, stenosis, occlusion, aberrant course. Persistent carotid vertebrobasilaramastomosis.

Cardiac anomalies - commonest coartation of aorta 67%, aberrant subclavian artery 20%

Eye anomalies - retinal vascular anomalies, optic nerve hypoplasia > cataracts, micropthalmia, sclerocornea

Stern defect/pit/cleft ; supraukbilical raphe

Other - ectopic thyroid, hypopitituitsm

Investigations
Fetal US first trimester may pick up CNS defects 
Opthal 
Derm 
Neuro - US MRI/MRA

Prognosis
Progressive cardiac and neuro sequelae

Ddx - sturge Webber, IH w/o syndrome

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2
Q

LUMBAR

A

Lower body IH, lipoma

Urogenital anomalies

Myopathy - tethered spinal cord, lipomeningocele

Bony defomities- sacral, hip dysplasia, leg length/width dyscrepancy

Anorectal anomalies - imprrforate anus, fistula

Renal - hypoplastic, single, pelvic

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3
Q

SACRAL

A

Spinal dysraphism

Anogenital

Cutaneous anomalies

Renal and urological

Lumbosacral IH

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4
Q

PELVIS

A

Perineal IH

External genitalia, malformations

Lipomyelomeningocele

Vesico renal abnormalities

Imperforate Anus

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5
Q

Approach to investigating infantile haemangioma

A 
Mulitple > 5
- need to check for visceral specifically hepatic hamangiomatosis
FBC, FOBT, urinalysis
Abdo USS +|- CT MRI
CXR, Echo
TFTS

SEGMENTAL
Facial - as per PHACES - opthal, echo, US/MRI MRA

Lower limb - LUMBAR - if under 3/12 US abdo pelvis and spine, if older need MRI.
MDT - urology, neurology, orthopaedics

Sacral - SACRAL
Pelvic - PELVIS

BEARD AREA - laryngoscopy ENT

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6
Q

Blue rubber bleb nevus syndrome

A
  • Sporadic (rare AD). Unknown aetiology.
  • M+F
  • Presents birth/early childhood.

• Skin

  • Multiple VM (soft compressible 0.1-5cm nodules). > May have c ombined lymphatic/venous malformation
  • Trunk and extremities
  • +/- pain +/- hyperhidrosis over lesions.
  • Increase size and number with age

• GIT

  • VM (esp small intenstive)
  • hemorrhage, anaemia
  • Reports of other viscera involvement
  • No prenatal dx
  • FBC
  • FOBT, endoscopy, MRI to map GIT lesions.

Normal life span if bleeding can be controlled. Lesions will persist and may enlarge over time.
Rx
- Skin – CO2, laser lesions, excision (tend to reoccur). Sirolimus under Ix
- GIT – reg screening, correct anaemia (Fe, transfusion), cauterize endoscopy, bowel resection if necessary.

DDx – multiple glomus tumours, maffuci syndrome, diffuse neonatal hemangiomatosis, Fabry disease.

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7
Q

List the imaging you can order for the following

  • CM
  • LM
  • VM
  • AVM
A

CM: +/- US

LM:
US, lymphography
CT + contrast
MRI WITHOUT gadolinum

VM
US, phlebography
CT + contrast; CTA (angiography)
MRI WITH gadolinium

AVM
US
CT + contrast; CT angio
MRI
Arteriography
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8
Q

What extracutaneous features would you investigate in a segmental CM

  • V1 distribution
  • V2 and V3
A

V1 - screen for neuro (MRI) + opthal involvement + soft tissue underneath

V2/V3 - dental/maxillary overgrowth (inc gingival hypertrophy)

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9
Q

What would be the concern and how would you investigate a PWS (CM) with a blue hue

  • On the forehead
  • On the cheek
A

Need to exclude combined CVM (capillary venous malformation)

CT, MRI, MRA

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10
Q

What would you want to rule out and investigate with a neonate with a non segmental red patch on the head and neck

A

Non segmental –> therefore not a CM (PWS)
Need to exclude an QVM (fast flow)

Examine
Warm –> stage 1
Thrill or bruit –> stage 2

Doppler US
CT
MRI, MRA
Angio

If stage 1 or 2 may be able to pre-embolise + EOL

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11
Q

Describe a nevus simplex and natural history

A

This is a type of benign CM (capillary malformation) typically present at birth
Can be on glabella in V shape “angel kiss”
Nape of neck “stork bite”

Can look more erythematous when baby cries

Typically fade 1-3 years

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12
Q

What is cutis marmorata telangiectasia congenita (CMTC)?
How does it present?
What are the concerning features?
Prognosis

A

This is a type of benign capillary malformation that may have extracutaneous features

Presents at birth on one or more extremities +/- trunk
Erythematous/violaceous reticulate vascular pattern
Can ulcerate and scar
Does not resolve with warming unlike physicologic cutis marmorata

Ipsilateral limb hyoplasia
Mental retardation
Glaucoma
Patent ductus arteriosis

May improve over time.

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13
Q

Describe the classification of telangiectasia disorders

A

These are benign capillary malformations

Non syndromic
Generalized hereditary telangiectasia
Essential Telangiectasia

Syndromic
Ataxia telangiectasia
HHT (not these are actually AVMs)

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14
Q

List classification subtypes of Capillary Malformations

A

CMs= PWS
Telangiectasia
Nevus simplex
Cutis marmorata telangiectasia congenita

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15
Q

Describe inheritance, features HHT (Hereditary, hemorrhagic telangiectasia

A

AD
HHT1 - Endoglin - more neuro/pulmonary
HHT2 - ALK1 - more liver

PIG(L)ET
Pulmonary
Intracranial
GIT
Epistaxis
Teles

Epistaxis in childhood
Adolscence develop acral and mucosal teles (actually AVMs)
Can have AVMs in GIT, pulmonary and CNS

Screening

  • Genetics
  • FBC, Fe studies, coags regularly
  • TTE - pulmonary AVMs
  • Scopes/Abdo US
  • MRI brain
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16
Q

Ataxia telangiectasia
Inheritance
Clinical presentation

A

Ataxia TAAILangiectasia

Teles - bulbar> malar then upper body (not mucosal)

Ataxia - progressive neurological involvement - cerebeallar ataxia, impaired intelect
Aged facies

IgA deficiency + recurrent sinopulmonary infections

Lymphoma in kids + Breast ca 5 x risk in carriers.

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17
Q

What is phakomatosis pigmentovascularis

A

CM + pigmented lesion
5 types

  1. CM + epidermal nevus
  2. Phakomatosis cesioflammea CM + mongolian spot (commonest)
  3. CM + Nevus spilus
  4. CM + CALM
  5. Cutis marmorata + melanocytic prolif

Nevus anaemicus commonly assoc

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18
Q

Sturge Webber

  • Inheritance
  • Clinical
  • Ix
A

Sturge Webber syndrome

Sporadic GNAQ mutation

  1. PWS - V1 highest risk opthalmic divison of trigeminal nerve
  2. Soft tissue/skeletal hypertrophy beneath
  3. Leptomeningeal CM –> seizures, intellectual impairement, stroke like symptoms (MRI tram tract calcifications of pia mata)
  4. Ocular - ipsilateral glaucoma

CT + contrast
MRI + gadolinium
EEG
Opthal review

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19
Q

Klippel Trenauny

A

PIK3CA
Sporadic

CM +/- varicose veins +/- lymphatic malformation
Overgrowth of affected limb - PROGRESSIVE

Complications

  • Clot/DVT/PE
  • Bleed
  • Secondary infection
  • Difficulty mobilising

Need aspirin/heparin
Compression/sclero

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20
Q

DCMO = diffuse capillary malformation with overgrowth

A

GNA11

Widespread CM + limb overgrowth

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21
Q

Proteus syndrome

A

Proteus sounds like a greek god acting (AKT1 mutation)

Facies
Bony 
Overgrowth
Lipomas
Lung cysts
Ocular
CM
Cerebriform palms
Subcut massess (probably LM)
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22
Q

CLOVES

A 
PIK3A
Congenital
Lipomatous
Overgrowth
Vascular anomalies = CM
Epidermal nevi
Scoliosis/skeletal abnormalities
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23
Q

CLAPO

A

CM of lower lip
LM tongue/neck
Asymmetry and
Partial overgrowth of face/extremities

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24
Q

Beckwidth Widerman

A

Sporadic KIP2

Heliacl ear pits and lobe creases
WHA - Wilms>hepatoblastoma>adrenal
Hypoglycemia
Large tongue + PWS
Omphalocele
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25
Q

Von Hippel Lindau

A 
AD VHL gene
Presents 4th decade
CM head and neck
CNS/retinal haemangioblastomas
Cancer - RCC, pheochromoctyoma
26
Q

Salient points on history for vascular lesion in child

A

Present at birth or not?
Is it rapidly growing?
Is it symptomatic - bleeding, ulcerating?
Is there inc warmth, trill, ausculate bruit?
Family history?

27
Q

ISSVA classification of vascular birthmarks

A

Vascular Tumours vs VMs

Vascular Tumours
Benign - IH, Congenital haemangioma (RICH, NICH, PICH), Tufted angioma, PG, Spindle cell haemangioma
Locally aggressive - kaposiform haemangioendothelioma, other

VM's
Simplex - CM, VM, LM, AVM
Combined
Of named major vessels
Assoc with other anomalies (syndromic)

Unclassified (a few others)
Angiokeratomas

28
Q

What is commonest soft tissue tumour of infancy?

A

Hamangioma of infancy

29
Q

Describe clinical features (inc natural history) if VMs

A

CM - small pink/erythematous patches, grow proportionally with child and can become nodular with age.
VM - blue hue, compressible, fills with dependency
LM - collections of small vesicles (or large deeper nodule), may have blood-lymph level
AVM - fast flow lesions, 4 stages - DED cardiac
-Dormant - red warm macule
- Exapanion - warm mass + Palpable thrill
- Destruction - pain, ulceration +/- bone lysis/fracture
-Cardiac decompensation

F=M
Present at birth
Grow with the child; persists life long
May worsen with puberty, trauma, pregnancy

30
Q

Describe immunophenotype + histology of VMs

A

GLUT-1 negative

CM: ectatic capillaries
VM: LM: distorted interconnected channels
AVM: AV fistula inc capillaries

31
Q

Haem complications of VMs

A

VM & LM

  • Localised intravasc coagulation –> risk DVT
  • Occasional DIC

Rx

  • Prevention: Aspirin
  • Treatment LMWH
32
Q

Mutations underling VMs

A

Vascular malformations are typically sporadic
CMS - GNAQ > GNA11
VM - TEK (50%) > PIK3A (25%)
LM - PIK3A

33
Q

Infantile haemangiomas (benign vascular tumours)
Clinical features
Natural history

A

Clinical features

F 2-5 x inc risk

Precursor lesion 50%
-red telangiectatic OR blue bruis-like OR anaemic macules

Becomes apparent in first few weeks of life

50% Superficial haemangioma: Bright red strawberry like papules/plaques (when proliferatng)

15% Deep: warm, rubbery mass under normal or blue coloured skin

Mixed 30%

PATTERN

  • Focal
  • Segemental (PHACES, LUMBAR, SACRAL)
  • Multiple/Multifocal (can be assoc with visceral involvement)

Natural history variable on subtype

  1. Proliferation - most 3/12 (deeper up to 12/12)
  2. Stabilization
  3. Involution - over 10 yrs (10% per year) 30% 3yr, 50% 5 yr, >90% 9 yr (newer studies report most reach final size by 4yo)

(Note IH are different from Congenital haemangiomas which are RICH/NICH)

34
Q

IH

- Histo and immunophenotype

A

GLUT-1 positive
Histo: dense lobular proliferation of endothelial cells forming vessels with small slit lumens.
Inc cell turnover markers eg Ki-67

35
Q

T/F

Kasabach Merritt phenomenon occurs in IH

A

False
Tufted angiomas
Kaposiform Haemangioendotheliomas

36
Q

Genetics of IH

A

There are rare familial cases (AD) linked to double hit loss of 5q

Germline VEGFR2 or TEM3
Somatic mutation VEGFR2 in some

37
Q

Risk factors for IH

A

Female
Premature or Low birth weight
Placental insufficiency - pre eclampsia, placenta privia
Chorionic villus sampling

38
Q

T/F

10% of children have Infantile haemangiomas

A

F

4-5%

39
Q

T/F

Most IH will reach full growth by 3 months old

A

T
80% of infantile haemangiomas reach final size by 3 months
Minotrity (usually mixed or deep) grow after 9 M

40
Q

What is IH-MAG

A

Infantiel haemangiomas with minimal OR arrested growth

Reticulate erythema; small red papules at periphery
<25% proliferative component
Doesnt really grow much more beyond this

Favours lower body
- can be assoc with LUMBAR or PHACES

41
Q

Danger signs or signs to treat infantile haemangioma

A
  1. Functional impairement
    - Face - PHACES
    - Eyelid
    - Nasal tip
    - Beard area –> laryngeal
    - Lower body –> LUMBAR/SACRAL
  2. Multiple
  3. Ulcerating
  4. Large/cosmetic appearance of concern –> reduce risk of scarring/residual fibrofatty change
42
Q

DDx of IH

A

CM, VM, LM, VLM
Congenital haemangioma
PG, tufted angioma, kapsoiform haemangioendothelioma

Non vasc - congenital fibrosarcoma, neurblastoma, DFSP

43
Q

IH complications

A 
Functional Impairement
Ulcerating/bleeding
Secondary infection
Fibrofatty change, Scarring & Disfigurement
Psychological sequelae
44
Q

T/F

50% of patient with segemental facial IH have PHACES

A

F

UP to 30%

45
Q

Risk factors for PHACES

A

IH >5cm

Fronto-temporal OR mandibular region

46
Q

What is the risk of infantile haemangioma on bear region

A

Concern is larygneal involvement

  • Difficulty feeding
  • Cough,stridor
  • Airway compromise

Represents an emergency

47
Q

Complications associated with multifocal infantile haemangioma

A

If >5 lesions concern is

  1. Visceral involvement esp liver > GIT, pulmonary & other organs
  2. Hypothyroidism

Ix
FBC, Fe studies
Screen for bleeding - FOBT, Urinalysis, scopes, abdo/liver US
TFTs

48
Q

Investigations to consider for infantile haemangiomas

A

For the actual lesion

  • US doppler (slow flow IH) if <4-6 months
  • MRI

Screen for complications:

Multiple

  • FBC, Fe studies
  • Screen for bleeding - FOBT, urinalysis, scopes, liver US
  • TFTs

Segmental H&N - PHACESS

  • MRI brain
  • Cardiac imaging (C in PHACE) - ECG/Echo
  • Opthal (E in PHACE)

Beard area
- ENT + larygoscope

Segemental lower body/spine

  • MRI Spine
  • Renal US, Anogenital imaging
49
Q

List rx options for Infantile Haemangiomas

A

None

However - if functionally imapired, ulcerating/symptomatic, cosmetic conern (large/location)

General - dressings

Topical Timolol 0.5% gel 1 drop BD> TCS - if early, flat, small
Oral Propranolol
Vascular laser (early and combined with propranolol)

Less common
SCS
Oral sirolimus
Vincristine
ACE-i

Surgery - if psychosocial effects can be minimised by early surgery
-Surgery for residual fibrofatty change

Life threatening
-Embolise + excise

50
Q

T/F
Oral propranolol is a selective B blocker
Blocks B1&B2 adrenergic receptors decrease VEGF and bFGF
Trgiggers apoptosis, inhibits growht of bessels and constricts existing ones

A

F - non selective

51
Q

CI to propranolol

A

Absolute
Allergy
2nd or 3rd degree HB
History Hypoglycemia

Relative

  • Bradycardic/hypotensive
  • Airway issues - eg wheeze
  • Intracranial abnormalities
  • Other systemic disease
52
Q

List SE of propranolol

A 
Acrocyanosis
Sleep disturbance
Irritability
Diarrhoea
Low BSL if not fed
Decreased HR/BP
Bronchospasm
53
Q

T/F

Propranolol should be started at 6 months old

A

F

Early in proliferative phase (several weeks of lfie)

54
Q

What preparation does propranolol come in

A

5mg/5ml

also 3.75mg/1ml

55
Q

What Ix need to be done before starting propranolol

A

History (CI)
- Allergy, hypoglycemia, hypotension/bradycardia/other cardiac issues, wheezing, intracranial abnormalities

Full examination - if suggestion of syndromic component or distribution concerning for complications (eg beard) –> sent to vascular anomalies MDT for Ix

If no risk factors; child is >8 weeks and >4kg safe to start in OPD
BP, HR
BSL - can be done routinely (not in Melbourne)
ECG/Echo - only if issues

56
Q

How to dose and monitor propranolol

A

In healthy child with no CI

Propranolol - GIVEN WITH FEEDS:
1mg/kg divided doses for 2 weeks
Then increase up to 2mg/kg/d in divided doses (can go up to 3mg/kg)

Consider HR/BP at baseline, 1 and 2 hours post first dose

Parents

  • written instructions to w/h if not feeding or unwell
  • No catch up doses

RV monthly whilst on rx adjust dose according to response and childs weight

RV patient monthly whilst on therapy until shows signs of involuting.
Once involuting - continue on therapy and review every 3 months until involutes compltely.

57
Q

What does a classic congenital haemangioma look like?

A

Blue nodule

telangiectasia, surrounding pale rim

58
Q

T/F

Propranolol is the treatment of choice for congenital haemangiomas

A

False - ineffective

Only works for infantile haemangiomas

59
Q

Natural history of congenital haemangiomas

A

Present and fully developed at birth (Like VMs, unlike IHs)

3 types
RICH - rapidly involuting, can ulcerate, scar, transient thrombocytopenia which resolves spont.
NICH - non involuting; proportional growht
PICH

60
Q

RICH vs NICH ROC

A

NICH - non involuting
- Needs excision

RICH - rapidly involuting

  • OBSERVE
  • can embolise
  • can excise
  • sclero for residual veins.
61
Q

What is kasabach merritt phenomenon and who does it occur in?

A

Occurs in tufted angiomas and kapsiform haemangioendotheliomas
- Present at birth, rapidly growing

Life threatening bleeding diathesis due to platelet trapping in the lesion

Thrombocytopenia
Hemolytic anaemia
Consumptive coagulopathy –> risk bleeding.

LIFE THREATENING

  • Vinblastine + Pred OR sirolimus
  • Aspirin can help platelets/control growht.
62
Q

Fabrys disease

A

XLR
Alpha galactosodase A deficiency/gene

Fever
Angiokeratoma corpris diffusum, abdo pain
Burning peripheral neuropathy of hands, feet
Renal failure
Young age of death
Stroke
Cloudy cornea, CVD

SR G (7 decks)

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