Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Cardiovascular System > Genetic Cardiac Disease > Flashcards

Genetic Cardiac Disease Flashcards

1
Q

Connective tissue diseases

A
  • Marfan
  • Loeys-Dietz
  • Ehlers Danlos
  • FTAA
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Familial Arrhythmias syndromes

A
  • Long QT
  • Brugada
  • CPVT
  • ARVC
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Familial Cardiomyopathy syndromes

A
  • HCM

- DCM

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Features of Marfan syndrome

A
  • Autosomal dominant
  • Multisystem
  • Connective tissue
  • Fibrillin 1 gene
  • Chromosome 15q21
  • TGFbetaR 2 (and TGFbetaR1)
  • Chromosome 3p22 (9q33)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Physical features of Marfan syndrome aged 13

A
  • Tall stature/pectus carinatum/ arachnodactyly
  • Lens subluxation
  • Mild aortic root dilatation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Physical features of Marfan syndrome aged 5

A
  • Tall stature/pectus carinatum/ arachnodactyly
  • Aortic root at upper limit of normal
  • Father died aortic aneurysm
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Findings of Ghent 2010 for diagnosis of marfan

A

Cardiovascular system
- Aortic dilatation/dissection

Eyes
- Ectopia lentis

Systemic score >7

  • Skeletal
  • Skin
  • Respiratory
  • Dural ectasia
  • Mitral valve prolapse
  • Myopia

Family history
- Unequivocally affected relative

Fibrillin 1
- Mutation known to cause MFS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Features of Marfan in childhood (features are age varying)

A
  • Tall stature
  • Pes plenus
  • Pectus
  • Scoliosis
  • Face/palate
  • Myopia
  • Ectopia lentis
  • Aortic
  • Striae (stretch marks)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Mechanism of TGFb and fibrillin in Marfan in transgenic mice

A
  • TGFb and fibrillin are both secreted into the extra-cellular matrix and interact in vitro
  • Incorporation of fibrillin into microfibrils results in proteolytic release of TGFb
  • TGFb signalling affects cell proliferation, differentiation and apoptosis
  • Transgenic mice, deficient in Fibrillin have excess TGFb signalling and Marfan features
  • TGFb antibodies, or the TGFb antagonist Losartan rescue the Marfan phenotype in Fibrillin deficient mice
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Optimal management methods of Marfan

A

At least annual clinical review

  • Echocardiogram
  • Beta blockers
  • Angiotensin II receptor blockers
  • Prophyllactic aortic surgery if sinus of valsalva exceeds: 5.5cm or 5% growth per year (2mm in adults)
  • Monitor aortic root frequently in pregnancy if diameter exceeds 4cm
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are Marfan - like syndromes?

A
  • Loeys-Dietz syndrome
  • Familial thoracic aortic aneurysms
  • BAV/FTAA
  • MASS phenotype
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Features of Loeys-Dietz syndrome

A
  • Arterial dissection, tortuosity, bifid uvula/cleft palate, hypertelorism, skin and skeletal findings
  • TGFBR1/2, SMAD3, TGFB2, TGFB3
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Features of Familial thoracic aortic aneurysms

A
  • 29 gene TAAD gene panel

- TGFBR2, MYH11, ACTA2, SMAD3, COL3A1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Features of BAV/FTAA

A
  • Bicuspid aortic valve/familial thoracic aortic aneurysm

- NOTCH1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Features of MASS phenotype

A
  • Myopia, mitral valve prolapse, mild aortic dilatation (<2sd), striae, minor skeletal involvement
  • Fibrillinopathy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are long QT syndromes?

A
  • Romano-Ward syndrome

- Jarvell Lange-Neilsen

17
Q

Features of Romano-Ward syndrome

A
  • Syncope “seizure”, sudden death
  • Emotion, exercise, drugs
  • ECG shows prolonged QTc interval
  • Repolarisation anomalies (T/U waves)
  • Paroxysmal Polymorphic VT (Torsade de Pointes)
18
Q

What is Bazett’s formula?

A

QTc = QT/ Sqaure root of RR

19
Q

Features of Jarvell Lange-Neilson syndrome

A

Same as Romano-Ward syndrome but + congenital sensorineural deafness

20
Q

Know genotype predictions: precipitants of arrthymia and mutations associated with them

A

and Patterns on ECGs

21
Q

Which conditions should be excluded from dilated cardiomyopathy?

A
  • Ischaemic heart disease (angiography)
  • Hypertension
  • Skeletal muscle disease (neurology/genetics evaluation, CPK)
  • Alcohol abuse (history and biochemical evidence, but 9% have TTN mutation)
  • Exposure to cardiotoxic drugs (history)
  • Haemochromatosis (ferritin/genotyping)
22
Q

In dilated cardiomyopathy, when should mitochondrial disease be considered?

A

If there is:

  • Diabetes
  • Deafness
  • Retinitis pigmentosa - Skeletal muscle disease
  • Growth retardation
  • Cognitive disorder
23
Q

Testing techniques in genomics

A
  • Whole genome sequencing
  • Whole exome sequencing
  • Software filtering
24
Q

Diagnosis methods of Inherited Cardiac Conditions

A
  • Diagnosis in proband: cardiac phenotype, genetic testing
  • Family history
  • Assess relatives
  • Cascade screening of relatives
  • Prevention of avoidable morbidity and mortality
25
Q

What is the largest gene in the genome?

A

Titin

- 363 exons, 38138 amino acids

26
Q

Features of Brugada syndrome

A
  • SCD or VF/VT and Type 1Brugada ECG
  • Prolonged PR interval
  • Enlarged LV/poor LV function
  • More common in young men especially of far eastern origin
27
Q

Management of Brugada syndrome

A
  • Avoid fever, excess alcohol
  • Overeating (>vagal effects)
  • ICD
28
Q

2010 task force criteria of ARVC (Arrhythmogenic right ventricular cardiomyopathy)

A
  • Ecgo/MRI (RV dyskinesia)
  • ECG: epsilon waves, T wave inversion
  • SAECG: late potentials
  • Effort induced VT (LBBB)
  • Histology: fatty infiltration of RV
  • Family history/ pathogenic gene variant
29
Q

What genes should genetic testing include in dilated cardiomyopathy?

A
  • TTN
  • LMNA
  • MYH7
  • MYBPC3
  • TNNT2
  • TNNI3
  • SCN5A
    and perhaps other genes such as dystrophin

Cardiovascular System (36 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions