Short Case DDx

Question 1

Outline signs of iron deficiency?

‘Mouth & Mind’

Answer 1

Pallor- conjunctiva, palmar
Irritability
Nail changes- koilonychia, brittle nails
Angular stomatitis
Psychomotor retardation
Pagophagia, Pica

Question 2

Outline signs of calcium deficiency?

‘Heart & muscle’

Answer 2

Chvostek (cheek), Trosseau (BP cuff) sign
Tetany
QT prolongation

Question 3

Outline signs of phosphate deficiency?

‘Bone and muscle’

Answer 3

Myopathy/rhabdo
Osteomalacia/Ricketts
Bone pain

Question 4

Outline signs of magnesium deficiency?

‘Crazy person’

Answer 4

Personality change
Seizures
Fasciculations & tremors

Question 5

Outline signs of zinc deficiency?

‘A to Z’

Answer 5

Acrodermatitis enteropathica
Alopecia

Question 6

Outline signs of copper deficiency?

Answer 6

Pallor
Bony changes

Opposite = Wilsons Disease

Question 7

Outline signs of B1/thiamine deficiency?

‘Alcoholics have no voice or heart’

Answer 7

Aphonic cry in infants (laryngeal paralysis)

Peripheral neuritis
Cardiomyopathy

Question 8

Outline signs of B2/riboflavin deficiency?

‘Cant see my breakfast of ballsack dandruff’

Answer 8

Photophobia, blurred vision
Poor growth
Angular stomatitis/glossitis
Seborrhoreic dermatitis (nose & scrotum)

Question 9

Outline signs of B3/Niacin deficiency?

‘B3 triple D’

Answer 9

Diarrhoea
Dermatitis
Dementia
Peripheral neuropathy, insomnia, psychosis

Question 10

Outline signs of B6/pyradoxine deficiency?

‘B6 for seizures & slowness’

Answer 10

Neuro- irritability/confusion/seizures
Stomatitis/glossitis

Question 11

Outline signs of B12 deficiency?

‘Big blood cells without feeling’

Answer 11

Anaemia
Peripheral neuropathy & demyelination

Question 12

Outline signs of Vitamin A deficiency?

Answer 12

Xeropthalmia
- Night blindness, dry conjunctiva
Poor dental enamel
Poor epiphysis formation
Dry skin
Infection prone
Poor growth

Question 13

Outline signs of Vitamin C deficiency?

Answer 13

Scurvy
- Leg pain/swelling at ends of long bones
- Bleeding/gum hypertrophy
- Anaemia, haemorrhage
- Poor wound healing
- Hyperchondriac/hysteria

Question 14

Outline signs of Vitamin D deficiency?

Answer 14

Poor tooth enamel
Frontal bossing
Delayed suture closure
Pectus carinatum/rachitic rosary
Femoral/tibeal bowing, splayed wrist

Question 15

Outline signs of Vitamin E deficiency?

Answer 15

Haemolytic anemia
Peripheral neuropathy
Retinal detatchment

Question 16

Outline signs of Vitamin K deficiency?

Answer 16

Bleeding
Impaired bony metabolism

Question 17

What are the 10 causes of cyanotic lesion?
(6 Ts, 1P, 1H, 2Ds)

Answer 17

TGA, TOF, TA, Tricuspid Ectasia/Ebstein’s, Truncus, TAPVD

PA

HLHS

DORV
DILV

Question 18

Outline signs of TGA, age of presentation & treatment?

Answer 18

3 wks age

Critically unwell, cyanotic- inadequete mixing
Mild cyanosis and well- adequete mixing- VSD/ASD & PS

Exam:
- Cyanosis
- +/- failure
- Loud S2, often no murmur

ECG: RVH/BVH + RAH
CXR: egg on a string

Procedure: arterial switch
- AS/PS, AR/PR, aortic root dilatation
- CA obstruction
- Ventricular dysfunction
- Arrythmias

Question 19

Outline signs of TOF, age of presentation & treatment?

Answer 19

Antenatal Dx, early in life, tet spells peak 2-4mo

Cyanotic, no failure (pulm stenosis)

Exam
- RV tap, thrill
- S2 single, 3-5/6 ESM on LUSE- pulm stenosis (decreases in tet spell)

CXR: boot shaped heart- cyanotic + oligaemic lung fields, right sided arch

Treatment
- Initial: knee to chest, oxygen, morphine, propanalol if tet spells
- Repair at 6mo: close VSD & widen RVOT
- +/- balloon dilatation of PV

Complications
- RBBB, CHB <1%
- Residual VSD/RVOTO
- PR/PS if patch, may require re-operation 20yrs, 30%
- +/- BT shunt

Question 20

Outline signs of Tricuspid Atresia, age of presentation & treatment?

Answer 20

Severe cyanosis at birth

Exam
- Cyanosis
- Murmur: VSD/PDA- LLSE ejection/pansystolic 2-3/6

ECG: superior axis
CXR: boot shaped heart, decreased PBF, large heart

Fontan repair
- 10 yr survival 80%

Question 21

Signs/presentation of Tricuspid atresia?

Answer 21

Tricuspid valve non-present (HLRH)

Cyanosis/ thrill if PS- single S2 +/- VSD or PDA murmur
Superior axis
RV enlargement, decreased PBF

Rx: vary from TV repair to fontan if severe RV insufficiency

Question 22

Outline signs of Ebstein’s Anomaly age of presentation & treatment?

Answer 22

Tricuspid valve displaced downwards & tethered

Holosystolic murmur LLSE (TR)/ mid diastolic (TS)
R) atrial enlargement
RBBB/RAH+/- WPW
VAries
- Cyanotic/CHF to very mild

• TV repair to Fontan +/- Starnes to close of RV (depends on size of RV)

Question 23

Outline signs of Truncus Arteriosus, age of presentation & treatment?

Answer 23

Cyanosis- if low PBF
CHF if high PBF

Associated Di George

Bounding pulses, wide pulse pressure
Hyperactive praecordium
Diastolic rumble if PBF, decrescendo murmur if truncal regurg

ECG BVH
CXR cardiomegaly

RV-TPA conduit as neonate
Upgraded 2-3yrs

Question 24

Outline signs of TAPVD, age of presentation & treatment?

Answer 24

Varies
Obstructed
- Critically unwell, cyanosis
- Loud P2 - possibly no murmur

Not obstructed
- Mild cyanosis/FTT
- S3-4 widely split (ASD)
- CXR: Snowman sign (pulm oedema and cardiomegaly)
-

Difficult to treat, significant

Question 25

Outline signs of Pulm Atresia, age of presentation & treatment?

Answer 25

Depends on size of RV/if alternative pathways

PA-VSD (presents like severe TOF)
- RV tap, thrill
- S2 single, 3-5/6 ESM on LUSE- pulm stenosis (decreases in tet spell)

PA-IVS
- Often needs 2 staged repair
- Shunt to PA to grow it, then definitive repair

Question 26

Outline signs of DORV, age of presentation & treatment?