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B3. Cardiovascular system > Genetic Heart Disease > Flashcards

Genetic Heart Disease Flashcards

1
Q

What causes a genetic cardiac disease?

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?

A

Maternal:

  • Anti-epileptics (Foetal Anticonvulsant Syndrome)
  • Rubella
  • Smoking
  • Drinking (Foetal Alcohol Syndrome)
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3
Q

What is the Nuchal Translucency (NT) test?

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?

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?

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?

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?

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?

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 are the features of 22q11 deletion syndrome?

A

CATCH22:

Cardiac Malformation (tetralogy of fallot)
Abnormal facies
Thymic Hypoplasia
Cleft Palate
Hypoparathyridism
22q11 deletion syndrome

Can also have speech delay/palatal dysfunction, renal issues and psychiatric problems.

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13
Q

What is hypoparathyridism?

A

under-function of the parathyroid glands -> under-production of the parathyroid hormone
Can lead to low serum calcium levels causing cramping/twitching/tetany

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14
Q

What is William’s Syndrome?

A

A microdeletion syndrome where 27~ contigous genes on chromosome 7 are deleted. Including those for LIM kinase & elastin.

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15
Q

What are the features of william’s syndrome?

A

Aortic Stenosis (supravalvular)

  • > Hypercalcemia
  • > 5th finger clinodactyly (curvature towards 4th finger)
  • > Characteristic Face
  • > Cocktail Party Manner (very sociable, outgoing and interact easily with stranger)
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16
Q

What are the effects of Foetal Alcohol Syndrome (FAS)

A

ASD/VSD

17
Q

What are the effects of Foetal anticonvulsant syndrome, and the specific drugs causing it?

A

Folate Deficiency which can cause VSD

  • > Characteristic Face
  • > Malformation Patterns
  • > Developmental Delay

Valproate - Phenytoin - Carbamazepine

18
Q

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

A

Long QT syndromes characterised by a prolonged QT segment on an ECG.

19
Q

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

A

Both:
Syncope - Seizure - Sudden Death

Jervell Lange-Neilsen also has congenital Sensorineural Deafness.

20
Q

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

A

Emotion - Exercise - Drugs

21
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

22
Q

What is Marfan’s syndrome?

A

A multisystem connective tissue disorder involving a deletion in chromosome 15, q arm, band 2, sub band 1. (15q21) which is the fibrillin 1 gene.

23
Q

How do we diagnose marfan’s syndrome?

A

The Ghent criteria requires atleast 2 of:

  • A family history with it
  • 7+ points on the clinical finding list
  • A +ve fibrillin 1 gene mutation
24
Q

What are the features of the Ghent Criteria?

A
  • Fingers reach round wrist due to long digits (arachnodactyly)
  • Thumb sign
  • Pectus carinatum
  • Pectus Excavatum
  • Flat Foot
  • Hindfoot deformity
  • Spontaneous Pneumothorax
  • Dural Ectasia (ballooning of dural sac)
  • Scoliosis/Kyphosis
  • Reduced elbow flexion
  • Protrusio Acetabuli (an overly deep femoral socket that may protrude into the pelvis)
  • Striae (unexplained stretch marks)
  • Myopia (short-sightedness) due to ectopia lentis (lens subluxation i.e. partial dislocation)
  • Mitral Valve Prolapse
  • Tall/ arm span greater than height
  • Facial Features
25
Q

What are the cardiac features of Marfan’s Syndrome?

A
  • Mitral Valve Prolapse leading to MR
  • Aortic Root dilatation (can be aneurysm)
  • Aortic Dissection
26
Q

How is Marfan’s Inherited?

A

Autosomal Dominant

27
Q

How is suspected Marfan’s investigated?

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.

28
Q

How is Marfans Managed?

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

29
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

30
Q

Can Marfan Patients have kids?

A

Yes, theyll have a 50% chance of having it with one affected parent .
Women with Marfans have regular echos through pregnancy to monitor the size of the aortic root as theyre at serious risk of dissection, prophyllactic surgery is possible >4cm.

31
Q

What are some marfan-related syndromes?

A

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

B3. Cardiovascular system (49 decks)

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