Genetic Heart Disease COPY Flashcards

1
Q

What are the main teratogens behind genetic heart disease?

A

FARM
- Foetal Alcohol
- Anti-Convulsants
- Rubella
- Maternal Diabetes

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2
Q

What is the mutation behind Down’s Syndrome?

A

Trisomy 21

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3
Q

What are the effects of Down’s Syndrome

A

Cardiac: Associated with ASD/VSD/Tetralogy/PDA
Other: Duodenal Atresia - Facial Characteristics - Intellectual disability - Growth delays

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4
Q

What are the effects of Turner’s Syndrome?

A

Cardiac: Coarctation of the Aorta
Other: Neck Webbing - Gonadyl Dysgenesis - Short Stature - All female - Puffy Hands

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5
Q

What is the mutation behind Turner’s Syndrome?

A

45,X

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6
Q

What is the mutation behind Williams Syndrome?

A

Elastin Gene deletion of Chromosome 7

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7
Q

What are the signs of williams syndrome?

A

Cardiac: Aortic Stenosis
Other: Face - Hypercalcaemia

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8
Q

What is the mutation behind Noonan Syndrome & Costello Syndrome?

A

PTPN11 gene mutation on chromosome 12

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9
Q

Effects of Noonan and [Costello Syndromes]?

A

Cardiac: Pulm Stenosis + [Cardiomyopathy]
Other: Cryptorchidism - Short - Face - Neck Webbing [Thick Skin Folds]

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10
Q

What is the mutation behind Digeorge Syndrome?

A

22q11 microdeletion

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11
Q

Effects of DIgeorge Syndrome?

A

CATCH22
Cardiac: PTA/Tetralogy/VSD
Other: Abnormal Facies - Thymic Hypoplasia - Cleft Palate - Hypothyroidism - Increased likelihood of psychiatric disorders e.g. bipolar, schizo, depression

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12
Q

What id Brugada Syndrome?

A

A familial Arrythmia
ST elevation and episodic Vfib and Vtac

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13
Q

What is Romano-Ward Syndrome?

A

The most common variation of Long QT Syndromes, a familial arrythmia.

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14
Q

Efects of Romano-ward syndrome?

A
  • Long QT & T wave abnormalities
  • Episodic Vtac, Vfib & Torsades de Pointes

Brought on by emotion, drugs or exercise:: Appears as syncope, ‘seizures’ & sudden death

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15
Q

How do we treat Long QT syndrome?

A

K+ Supplements
Na+ Channel Blockers - Type 1b anti arrythmics

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