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Cardiology > Genetic Heart Disease > Flashcards

Genetic Heart Disease Flashcards

1
Q

What causes a genetic cardiac disease? [3]

A

Some are inherited, these are multifactorial as theyre based on multiple genes
Some are random
Some are caused by enviromental teratogens.

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2
Q

What teratogens can cause congenital heart disease? [4]

A

FARM

  • Foetal Alcohol
  • Anti-Convulsants
  • Rubella
  • Maternal Diabetes
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3
Q

What is the Nuchal Translucency (NT) test? [2]

A

An ultrasound during pregnancy which measures the buildup of fluid in the back of the babys neck.
A thicker than normal fluid buildup can indicate down syndrome, Edwards syndrome (trisomy 18) and heart problems.

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4
Q

What is Down Syndrome?

A

Trisomy in chromosome 21 due to non-disjunction

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5
Q

What are the effects of Down Syndrome? [5]

A

ASD/VSD/Tetralogy of Fallot/PDA

  • > Intellectual Disability
  • > Physical Growth Delays
  • > Facial Characteristics
  • > Duodenal Atresia (absence/closure of part of the duodenum causing intestinal obstruction in newborns & increased amniotic fluid in pregnancy)
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6
Q

What is Turner’s Syndrome?

A

No sex chromosome from the father -> 45, X

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7
Q

What are the effects of Turner’s Syndrome? [5]

A

Coarctation of the Aorta

  • > Short Stature
  • > Puffy Hands
  • > Neck Webbing
  • > Gonadal Dysgenesis (loss of germ cells in embryos leads to infertility & a sexually infantile female appearance)
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8
Q

What is Noonan Syndrome? [2]

A

A mutation in the PTPN11 gene on chromosome 12 (autosomal Dominant inheritance).
This is a gene in the MAPK pathway (mitogen activated protein kinase)

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9
Q

What are the effects of Noonan Syndrome? [5]

A

Pulmonary Stenosis & Septal Defects

  • > Short Stature
  • > Neck Webbing
  • > Facial Characteristics
  • > Cryptorchidism (missing 1 or more testicles)
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10
Q

What conditions are associated with Noonan syndrome due to all affecting different genes in the MAPK pathway? And their symptoms? [3]

A

Cardiofaciocutaneous (CFC)

  • Problems with the Ectoderm
  • Developmental Delay

Leopard Syndrome:

  • Multiple Lentigenes (small proliferation of melanocytes, looks just like freckles, harmless)
  • Deafness

Costello Syndrome:

  • Thickened Skin Folds
  • Susceptible to Warts
  • Cancer Risk
  • CARDIOMYOPATHY
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11
Q

What is 22q11 deletion syndrome?

A

A microdeletion syndrome where a small segment of chromosome 22, q (long) arm, band 1, sub-band 1 is deleted.

It encompasses DiGeorge syndrome and Shpintzen (velocardiofacial) syndrome.

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12
Q

What is William’s Syndrome? [2]

Cardiac disease in Williams

A 
A microdeletion syndrome where 27~ contiguous genes on chromosome 7 are deleted.
 Including those for LIM kinase & elastin.
Aortic Stenosis (supravalvular)
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13
Q

What are the effects of Foetal Alcohol Syndrome (FAS)

A

ASD/VSD

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14
Q

What are the effects of Foetal anticonvulsant syndrome [4] and the specific drugs causing it [3]

A

Folate Deficiency which can cause VSD

  • > Characteristic Face
  • > Malformation Patterns
  • > Developmental Delay
  • Valproate
  • Phenytoin
  • Carbamazepine
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15
Q

What are Romano-ward and Jervell Lange-Neilsen syndromes?

A

Long QT syndromes

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16
Q

What are the features of Romano-Ward [3] & Jervell Lange-Neilsen Syndromes?

A

Both:

  • Syncope
  • Seizure
  • Sudden Death

Jervell Lange-Neilsen also has congenital Sensorineural Deafness.

17
Q

What are the triggers for episodes of Romano-Ward and Jervell Lange-Neilsen syndromes? [3]

A
  • Emotion
  • Exercise
  • Drugs
18
Q

What is Brugada syndrome?

A

A condition causing a Right Bundle Branch Block (RBBB) which shows up as ST elevation on ECG leads V1-3

19
Q

What are the cardiac features of Marfan’s Syndrome? [3]

A
  • Mitral Valve Prolapse leading to MR
  • Aortic Root dilatation (can be aneurysm)
  • Aortic Dissection
20
Q

How is suspected Marfan’s investigated? [5]

A

Echo - to inspect aortic root and clarify the murmurs
MRI - Of the Lumbar Spine for Dural Ectasia
Pelvic X-Ray - For Protrusio Acetabuli
CXR - Pneumothorax
Genetics Test - Fibrillin 1 mutation.

21
Q

How is Marfans Managed? [5]

A

Firstly, with an annual clinical review in which clinical features are assessed for progression and an echo is used to check on the aortic root & valves.

Also B blockers - CCBs - ARBs - ACEIs to control stress on heart

Warfarin if the mitral valve is replaced by a prosthetic (see valvular disease)

Lifestyle changes - Avoid heavy exertion & contact sports

Prophyllactic Aortic Surgery

22
Q

When would we conduct prophyllactic aortic surgery on a marfans patient?

A

When the sinus of valsalva > 5.5cm or grows 5% a year.

Or if >4cm in a pregnant woman

23
Q

What are some marfan-related syndromes? [4]

A

Loeys-Dletz Syndrome
Marfan Syndrome Type 2 (non-ocular)
Familial Thoracic Aortic Aneurysms
MASS Phenotype (marfans without skeletal involvement)

24
Q

How do we treat Long QT syndrome? [3]

A

K+ Supplements

Na+ Channel Blockers - Type 1b anti arrythmics

Cardiology (29 decks)

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