Congenital and Genetic Heart Disease

Question 1

What are some of the CAUSES of CONGENITAL HEART DISEASE?

Answer 1

1) Chromosomal, i.e. Trisomies/Monosomies
2) Microdeletions, i.e. 22q11 deletion
3) Single Gene Mutation, i.e. Noonan or Marfan
4) Teratogens, i.e. Rubella, Alcohol or Maternal Diabetes

Question 2

What is a potential CONGENITAL HEART DISEASE suffered by individuals with DOWN syndrome(DS)?

Answer 2

Atrioventricular Septal Defect (15%)

Question 3

What is a potential SIGN that a developing foetus may have DS?

Answer 3

> Nuchal Translucency

Question 4

What is a potential CONGENITAL HEART DISEASE suffered by individuals with TURNER syndrome (45, X)?

Answer 4

Coarctation of Aorta

Question 5

What are some of the SIGNS of Turner Syndrome?

Answer 5

1) Short Stature
2) Neck Webbing
3) Gonadal Dysgenesis

Question 6

In what other, common, genetic syndromes would NECK WEBBING be a common SIGN?

Answer 6

1) Noonan Syndrome
2) Cardio-Facio-Cutaneous (CFC)
3) Leopard Syndrome
4) Costello Syndrome

*Due to Excess Nuchal Folds

Question 7

What does the MNEMONIC - CATCH22 - stand for, in relation to 22q11 Deletion Syndrome?

Answer 7

Main Signs of 22q11 Deletion:

Cardiac Malformation
Abnormal Facies
Thymic Hypoplasia
Cleft Palate
Hypoparathyroidism
22q11 deletion

Question 8

What TWO SYNDROMES does 22q11 deletion encompass?

Answer 8

1) DiGeorge Syndrome

2) Shprintzen Syndrome

Question 9

What are the MAIN SYMPTOMS of 22q11 deletion syndrome?

Answer 9

1) Renal Impairment

2) Psychiatric Problems

Question 10

What is a potential CONGENITAL HEART DISEASE suffered by individuals with WILLIAMS syndrome (WS)?

Answer 10

Aortic Stenosis

Question 11

What are the SIGNS of MARFAN SYNDROME?

Answer 11

1) Tall Stature
2) Pectus Carinatum
3) Arachnodactyly (Long Spidery Fingers)
4) Lens Subluxation (Dislocation)
5) Scoliosis/Kyphosis

Question 12

What is a potential CONGENITAL HEART DISEASE suffered by individuals with MARFAN syndrome?

Answer 12

Aortic Root Dilatation

*Leading to Aortic Dissection

Question 13

How is MARFAN syndrome caused?

Answer 13

Single Gene Mutation

Fibrillin - 1 Gene on Chromosome 15

Question 14

What CRITERIA is used to DIAGNOSE MARFAN syndrome?

Answer 14

Ghent 2010 Criteria

Question 15

Give some EXAMPLES of the SYSTEMIC CRITERIA that must be fulfilled to bestow a diagnosis of Marfan syndrome:

Answer 15

• 2 +ve System Findings needed
• Score > or equal to 7 needed

Scoliosis/Kyphosis
Pectus Deformity
Pneumothorax
Mitral Valve Prolapse, etc

Question 16

What INVESTIGATIONS could be carried out for the diagnosis of Marfan Syndrome?

Answer 16

1) Echocardiography - for Aortic Root Diameter
2) CXR - for Pneumothorax
3) ECG - for Murmur
4) MRI of Lumbar Spine - for Dural Ectasia
5) Pelvic X-Ray - for Protrusio Acetabulae
6) Genetic Testing - FBN-1 Gene Mutation

Question 17

How should a patient with Marfan’s be MANAGED?

Answer 17

*Annual Reviews

1) Echo - Monitor Aortic Root; Should Not Exceed 4cm Diameter
2) Beta-Blockers
3) ACEIs or ARBs
4) Prophylactic Aortic Root Surgery
5) Given Lifestyle Advice, i.e. Avoid Contact Sports/Heavy Exertion

Question 18

What are the ADVANTAGES and DISADVANTAGES of VALVULAR REPLACEMENT in AORTIC ROOT SURGERY?

Answer 18

*Mechanical

Advantage - Lasts Longer (>40 years)

Disadvantage - Lifelong Warfarin

Question 19

What are the ADVANTAGES and DISADVANTAGES of VALVULAR SPARING in AORTIC ROOT SURGERY?

Answer 19

Advantage - No Anticoagulation Needed

Disadvantage - May Require Further Surgery

Question 20

What is a COMMON CAUSE of HYPERTROPHIC CARDIOMYOPATHY (HOCM)?

Answer 20

*Autosomal Dominant Inheritance

Mutation of Beta-Myosin Heavy Chain Protein (MYH7)

Question 21

HOCM is a condition known to cause SUDDEN cardiac DEATH in which COHORT of the population?

Answer 21

Young Athletes