Genetic Conditions

Question 1

Marfan’s Syndrome: Define

Answer 1

Disorder of Connective Tissue
Decreased extracellular microfibril formation 
Poor elastic fibres 
Autosomal Dominant 
Mutated Fibrillin 1 gene

Question 2

Marfan’s Syndrome: Characteristics:

Answer 2

Loose flexible joints
Lens dislocation (superiorly and medially)
Abnormally long limbs - Tall
Abnormally long fingers & toes
Aortic Dissection/Dilation 
Heart Defects - Mitral Valve Prolapse

Question 3

Marfan's Syndrome: Investigations: 
M
C
- Criteria 
- Score

Answer 3

MRI
CXR - Apical Blebs
GHENT 2010 Criteria:
CVS, Eyes, Family History, Fibrillin 1 mt
Systemic Score (2+):
Scholiosis/Kyphosis, Pectus Deformity, Thumb-wrist, foot-ankle, reduced elbow extension, myopia, mitral valve prolapse, pneumothorax, face, striae, protrusia

Question 4

Marfan’s Syndrome Syndrome: Treatment

Answer 4

MDT
Angiotensin Receptor Blocker (ARBS) (Sartan's)
Beta Blockers (Lol's)
Prophylactic Aortic Surgery 
Physiotherapy

Question 5

Wolff-Parkinson White Syndrome: Define

Answer 5

Congenital accessory conducting pathway between atria & ventricles -> atrioventricular re-entry tachycardia (AVRT)
Accessory pathway does not slow conduction - AF rapidly degenerates to Ventricular Fibrillation.

Question 6

Wolff-Parkinson White Syndrome: Associations

Answer 6

Hypertrophic Obstructive Cardiomyopathy
Mitral Valve Prolapse
Ebstein's anomaly
Thyrotoxicosis 
Ostium Secundum Atrial Septal Defect

Question 7

Wolff-Parkinson White Syndrome: Type & ECG Reading
Type A:
Type B:

Answer 7

Type A: left sided pathway - dominant R wave in V1

Type B: right sided pathway - NO dominant R wave in V1

Question 8

Wolff-Parkinson White Syndrome: Investigations:

Answer 8

ECG:
Dominant R wave (left sided pathway)
short PR interval
wide QRS - slurred upstroke delta wave
left axis deviation - right sided pathway
right axis deviation - left sided pathway

Question 9

Wolff-Parkinson White Syndrome: Management:

Answer 9

Anti-arrhythmic Drugs: 
Sotalol
Amiodarone
Flecanide 
Procedures: 
Radiofrequency ablation of accessory pathway*

Question 10

Postural Hypotension: Define

Answer 10

Fall in systolic BP > 20 mmHg on standing

Question 11

Postural Hypotension: Causes:

Answer 11

Hyovolaemia
Autonomic dysfunction - diabetes, parkinsons
Drugs/Drink Causes: 
Diuretics
Antihyperensives
L-Dopa
Phenothiazines
Antidepesents
Sedatives
Alcohol

Question 12

Teratogens:

Answer 12

Fetal Alcohol Syndrome
Antiepilectic Drugs
Rubella
Maternal Diabetes Melitus

Question 13

22q11 Deletion Syndromes
1.
2.

Answer 13

DiGeorge Syndrome

Shprintzen Syndrome

Question 14

22q11 Deletion Syndrome CATCH22PR

Answer 14

Cardiac malformation
Abnormal facies
Thymic hypoplasia 
Cleft palete
22q11 mutation
Pyschological impairment
Renal impairment

Question 15

22q11 Deletion Syndrome - DiGeorge Syndrome

Answer 15

Sporadic
Hypoparathyroidism
Outflow Tract cardiac malformation
Thymic Hypoplasia

Question 16

22q11 Deletion Syndrome - Sphrintzen Syndrome

Answer 16

Cleft Palete - Palatal Insufficiency
Outflow Tract cardiac malformation
Characteristic Face
Autosomal Dominant

Question 17

Noonan’s Syndrome: AD

Characteristics:

Answer 17

Autosomal Dominant 
*Bleeding problems*
*Pulmonary Stenosis*
Cryptorchidism 
Characteristic face
PTPN11 mutation
Short Stature
Neck Webbing 
Other similar conditions: 
*Cardio-Facio-Cutaneous* 
Leopard Syndrome
Costello Syndrome

Question 18

William Syndrome

Characteristic

Answer 18

*Aortic Stenosis* - supravalvular
Deletion of Elastin on Chr 7 
Deletion of Contiguous Genes
5th Finfer Clinodactyly
LIM Kinase
Characteristic Face
Broad Face
Short nose
Full Cheeks
Appearance - Elf-like
Hypercalcemia

Question 19

Down Syndrome: Characteristics: Trisomy 21

Answer 19

Learning Disability & Physical Features
Atrioventricular Septeal Defects (shunt - myxoma)
Duodenal Atresia (congential absence/closure of the lumen of duodenum)
Cystic Hygroma (armpits & neck) lyphatic lesion.

Question 20

Turners Syndrome Definition

Answer 20

Chromosomal 
Developmental in Females
*AORTIC COCARCTATION*
Short Stature (seen at 5yrs)
Ovarian Hypofunction (Gonadal Dysgenesis)
Puffy hands

Question 21

Turner’s Syndrome

Answer 21

Aortic Coarctation

Question 22

William Syndrome

Answer 22

Aortic Stenosis

Deletion of Elastin on Chr 7

Question 23

Noonan’s Syndrome

Answer 23

Bleeding problems

Pulmonary Stenosis

Question 24

22q11 Deletion: DiGeorge Syndrome & Sphrintzen Syndrome

Answer 24

Outflow Tract cardiac malformation

Question 25

Down Syndrome

Answer 25

Atrioventricular Septeal Defects (shunt - myxoma)*

Duodenal Atresia (congential absence/closure of the lumen of duodenum)