Congenital and Genetic Heart Disease Flashcards Preview

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Flashcards in Congenital and Genetic Heart Disease Deck (21)
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1

What are some of the CAUSES of CONGENITAL HEART DISEASE?

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

2

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

Atrioventricular Septal Defect (15%)

3

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

> Nuchal Translucency

4

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

Coarctation of Aorta

5

What are some of the SIGNS of Turner Syndrome?

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

6

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

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

*Due to Excess Nuchal Folds

7

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

Main Signs of 22q11 Deletion:

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

8

What TWO SYNDROMES does 22q11 deletion encompass?

1) DiGeorge Syndrome
2) Shprintzen Syndrome

9

What are the MAIN SYMPTOMS of 22q11 deletion syndrome?

1) Renal Impairment
2) Psychiatric Problems

10

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

Aortic Stenosis

11

What are the SIGNS of MARFAN SYNDROME?

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

12

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

Aortic Root Dilatation

*Leading to Aortic Dissection

13

How is MARFAN syndrome caused?

Single Gene Mutation

Fibrillin - 1 Gene on Chromosome 15

14

What CRITERIA is used to DIAGNOSE MARFAN syndrome?

Ghent 2010 Criteria

15

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

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

Scoliosis/Kyphosis
Pectus Deformity
Pneumothorax
Mitral Valve Prolapse, etc

16

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

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

17

How should a patient with Marfan's be MANAGED?

*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

18

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

*Mechanical

Advantage - Lasts Longer (>40 years)

Disadvantage - Lifelong Warfarin

19

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

Advantage - No Anticoagulation Needed

Disadvantage - May Require Further Surgery

20

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

*Autosomal Dominant Inheritance

Mutation of Beta-Myosin Heavy Chain Protein (MYH7)

21

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

Young Athletes