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Y1 Cardiology > Structural Abnormalities > Flashcards

Structural Abnormalities Flashcards

1
Q

Congenital Heart Disease (def.)

A

A gross structural abnormality of the heart or intrathoracic great vessels that is actually or potentially of functional significance. Present at birth.

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2
Q

Incidence of congenital heart disease

A

4-13 per 100 live births.

Scotland 8/1000 (3/1000 major defect)

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3
Q

Spectrum of severity in congenital heart disease

A

MILD - asymptomatic, may resolve or progress
MODERATE - requires specialist intervention and monitoring
SEVERE - critically unwell or even death in newborn period or early infancy

MAJOR congenital heart disease requires surgery within the first year of life.

Know examples of each category.

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4
Q

When might congenital heart disease present?

A 
Antenatally 
Soon after birth 
Day 1-2 baby check 
Day 3-7 (sudden circulatory collapse, shock, cyanosis, sudden death) 
4-6 weeks cardiac failure 
6-8 week GP visit

murmurs etc may also be found incidentally at other clinical contact

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5
Q

Spectrum of presentation in congenital heart disease

A

Well baby with clinical sings

Unwell baby - cyanosis, shock, cardiac failure.

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6
Q

How is congenital heart disease found during antenatal scanning?

A

4 chamber heart view and outflow tract view (DA).

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7
Q

Why is sensitivity of antenatal scanning for congenital heart disease so variable?

A

Depends on training and experience of operator.

Depends on maternal characteristics.

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8
Q

Management post antenatal diagnosis of congenital heart disease

A

Expert team - delivery in cardiac surgical centre?

Prostaglandin infusion? Prepare in advance.

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9
Q

Newborn screening involves…

A

femoral pulses, heart sounds and checking for presence of murmurs (sometimes also pre-post ductal sats).

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10
Q

How effective is newborn screening?

A

More than half of infants with congenital heart disease are missed in this exam.
A third of infants with life threatening heart abnormalities leave undiagnosed.

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11
Q

How indicative are murmurs of underlying heart disease?

A

Around half of babies with a murmur have underlying HD. The other half are healthy babies.

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12
Q

Cyanosis in neonates

A

Any condition causing deoxygenated blood to bypass lungs and enter systemic system.
Any condition where mixed oxygenated and deoxygenated blood enters systemic system from the heart.
Clinically- blueish discolouration.

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13
Q

Differential diagnosis of Cyanosis

A 
Cardiac disease (little or no resp distress) 
Respiratory disease (increase breathing and CXR changes)
PPHN (very unwell, pre-post ductal differential)
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14
Q

Transposition of the Great Vessels (def)

A

Group of cyanotic congenital heart defects involving an abnormal spatial arrangement of any of the great vessels -> decreased oxygen in blood pumped to heart and body.

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15
Q

What might help neonate with TGV survive?

A

Foramen Ovale or congenital defect such as ASD may allow time for diagnosis and correction surgery- a balloon can be used to widen this shunt.
Ducts may also be involved (not dependent)

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16
Q

When do Ductus Arteriosus and Ductus Venosus close?

A

after birth- shunt remains for 2-7 days after birth.

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17
Q

Clinical signs of Duct Dependent Condition

A 
Pallor 
Prolonged CRT 
Poor/absent pulses 
Hepatomeglay 
Crepitations 
Increased work of breathing

Acidosis

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18
Q

Treatment of Duct Dependent Conditions

A

ABC as necessary
Prostaglandin E2 given to open duct
Multisystem support
Transfer to Cardiac Centre for definitive treatment (surgery)

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19
Q

Examples of systemic DDC

A

HPLH
Critical aortic stenosis
Interrupted aortic arch
Critical coarctation of aorta

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20
Q

Examples of pulmonary DDC

A

Tricuspid atresia

Pulmonary atresia

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21
Q

Pulmonary Atresia (def.)

A

Failure of formation of pulmonary valve. Associated with VSD.

Blood supply to the lungs - retrograde filling of the branch pulmonary arteries via DA when duct open so often ok, however is therefore problematic when DA closes.

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22
Q

Why is Cardiac Failure associated with large left to right shunts?

A

Large left to right shunts cause increase in pulmonary flow and therefore ventricular load.

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23
Q

When does Cardiac Failure usually present?

A

Few weeks old- when pulmonary pressure drops (left to right flow across defect increases).

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24
Q

Clinical signs of cardiac failure in babies

A 
Failure to thrive 
Slow/reduced feeding 
Breathlessness (feeding) 
Sweating 
Hepatomegaly 
Crepitations
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25
Q

Management of Major Congenital HD

A

Surgery- repair vs palliative
Developmental problems
Future surgery considered
Emotional and Social issues

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26
Q

How is Patent DA repaired?

A

Catheter procedure where device closes the duct, with a couple of follow up appointments to ensure flow stopped and the device is in the correct position.

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27
Q

How is VSD repaired?

A

Closure can be done using a patch.
Follow up during childhood and adolescence to check for rhythm or valve problems. Generally, these patients are expected to have a normal life.

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28
Q

How is HLHS treated?

A

This requires a 3 stage complex surgery. There is significant mortality at each stage and between.
The end result is RV supplying the systemic circulation. This will fail over time and the patient will eventually need a transplant.

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29
Q

Arrhythmia is a common manifestation of genetic conditions- three categories?

A

Inherited Arrhythmia Syndromes
Inherited Cardiomyopathies
Inherited multisystem diseases with CVS involvement (myotonic dystrophy)

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30
Q

Two groups of arrhythmogenic inherited cardiac conditions

A

Channelopathies and cardiomyopathies

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31
Q

Examples of Channelopathies

A 
Congenital Long QT syndrome
Brugada Syndrome
Catecholaminergic Polymorphic Ventricular tachycardia (CPVT)
Short QT syndrome
Progressive familial conduction disease
Familial AF 
Familial WPW
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32
Q

Examples of Cardiomyopathies

A

Hypertrophic cardiomyopathy
Arrhythmogenic Right Ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy

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33
Q

How are inherited cardiac conditions (arrhythmic) diagnosed?

A

Clinical testing
Genetic testing

Family Screening

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34
Q

Risk management of Inherited Arrhythmic Conditions involves…

A

Lifestyle
Pharmacological agents
Non-pharmacological intervention

35
Q

The surface ECG =

A

summation of all ion currents across the cell membrane

36
Q

What are the main proteins responsible for LQTS, Brugada and CPVT?

A

LQTS - Potassium voltage gated channel member 1 (KVLQT1)
Brugada - Sodium channel (voltage gated type V a subunit)
CPVT - Ryanodine receptor 2

37
Q

What triggers polymorphic VT (torsades de pointes)?

A

adrenergic stimulation

38
Q

Autosomal Dominant LQTS

A

Isolated LQT: Romano-Ward syndrome

Extra cardiac features: Anderson-Tawil Syndrome, Timothy syndrome

39
Q

Autosomal Recessive LQTS

A

Associated with deafness: Jervell and Lange-Nielsen syndrome

40
Q

Mechanism of QT prolongation

A

less repolarising and more depolarising current prolongs APD.

41
Q

Molecular basis of LQTS (how does it trigger polymorphic ventricular tachycardia)?

A

Genetic mutation causes reduced or dysfunctional ionic current. This prolongs cardiac repolarisation and therefore QT interval.
This triggers polymorphic ventricular tachycardia.

42
Q

How is LQTS diagnosed?

A

QTc >480 ms in repeated 12 lead ECGs, or
LQTS risk score >3

Presence of confirmed pathogenic LQTS mutation (irrespective of QT duration)

(ECG QTc <460 ms in unexpained syncopal episode considered)

43
Q

Torsades de Pointes

A

specific form of polymorphic ventricular tachycardia occurring in the context of QT prolongation; it has a characteristic morphology in which the QRS complexes “twist” around the isoelectric line. For TdP to be diagnosed, the patient has to have evidence of both PVT and QT prolongation.

44
Q

Risk of sudden cardiac death in LQTS

A

Age dependant
Gender (pre-adolescent males and adult females)
Increasing QT duration
Prior syncope, and response to beta-blockers

45
Q

What lifestyle changes are recommended in patients with LQTS?

A

Avoidance of QT prolonging drugs
Correction of electrolyte abnormalities that may occur during vomiting, diarrhoea, metabolic conditions.
Avoidance of genotype specific triggers.

46
Q

Examples of genotype specific triggers in LQTS

A

LQTS1 - strenuous swimming

LQTS2- exposure to loud noises

47
Q

What arrhythmic abnormalities is Brugada Syndrome associated with?

A

Increases risk of polymorphic VT and VF.

Atrial fibrillation is common.

48
Q

What are the characteristics of a diagnostic ECG of Brugada Syndrome?

A 
ST elevation (type 1 morphoogy >2mm) and RBBB in V1-V3
ECG findings may be intermittent, change over time
Diagnostic ECG changes may seen only with provocative testing with flecainide or ajmaline (drugs that block the cardiac sodium channel)
49
Q

What might trigger VF in a patient with Brugada Syndrome?

A

Usually rest or sleep
Fever
Excessive alcohol, large meals
Genotype and family history of SCD does not influence prognosis

50
Q

What is the incidence of arrhythmia in patient with Brugada syndrome?

A

1% in asymptomatic patients

  1. 2% in patients with syncope
  2. 5% if previous cardiac arrest
51
Q

What lifestyle changes are recommended in Brugada Syndrome?

A

Avoidance of drugs that may induce ST elevation in right precordial leads
Avoidance of excess alcohol intake and large meals
prompt treatment of fever with antipyretic drugs

ICD implantation recommended in cardiac arrest survivors and those with spontaneous sustained VT

52
Q

Drugs to avoid in Brugada Syndrome

A

Anti-arrhythmic drugs
Psychotropics
Analgesics
Anaesthetics

53
Q

What is Brugada Syndrome?

A

Genetic abnormality where the heart looks and functions normally but sudden electrical activity can lead to arrhythmia.
In a third of cases, this is due to the SCN5A gene.

54
Q

What is Catecholaminergic Polymorphic Ventricular Tachycardia?

A

CPVT is a rare inherited heart rhythm disturbance found in young people and children.

Within your heart cells, proteins regulate the release of calcium ions. If these proteins function abnormally, it can lead to a rise in the level of calcium inside your cells.

This rise in calcium can cause arrhythmias.

55
Q

What can trigger PVT/SVT in CPVT?

A

Emotional stress
Physical activity

(adrenergic induced)

56
Q

What would an ECG look like in CPVT?

A

Both the ECG and ECHO would be normal.

57
Q

Autosomal dominant and recessive genetics of CPVT

A

Dominant- Ryanodine Receptor mutation (RyR2)

Recessive- Cardiac calsequestrin gene (CASQ2)

58
Q

Wha lifestyle changes are recommended in CPVT?

A

Avoidance of competitive sports, strenuous exercise and stressful environments
Beta blockers are recommended in all patients, and possibly genetically positive family members
ICD implantation recommended in CA arrest survivors and those with recurrent syncope or VT

59
Q

When would Flecainide be used in CPVT?

A

Alongside beta blockers where;
Recurrent Syncope
Polymorphic/bidirectional VT
Risk/contraindications for ICD

60
Q

What is the primary genetic cause of hypertrophic cardiomyopathy?

A

Mutation in the sarcomeric protein genes accounts for 60% of hypertrophic cardiomyopathy/

Other causes include inborn errors of metabolism, AMP kinase, carnitine disorders, lysosomal storage disorders, mitochondrial diseases, neuromuscular diseases, malformation syndromes, amyloidosis, newborn of diabetic mother and drug induced.

61
Q

How is Hypertrophic Cardiomyopathy diagnosed?

A
  1. Clinical evaluation
  2. Diagnostic red flags
  3. Further testing/genetic testing depending on what previous tests suggest
  4. Consideration of genetic/non-genetic causes
  5. Arrival at specific genetic/acquired disorder
62
Q

Signs and symptoms suggestive of specific diagnosis in relation to Hypertrophic Cardiomyopathy.

A

Learning difficulties/mental retardation- mitochondrial disease, Noonan/LEOPARD/Costello, Danon disease.

Sensorineural deafness- mitochondrial diseases, Anderson-Fabry, LEOPARD.

Visual impairment- mitochondrial diseases, TTR related amyloidosis, Danon diseases, Anderson-Fabry disease.

Gait disturbance- Friedreich’s ataxia.

Paraesthesia/sensory abnormalities/neuropathic pain- amyloidosis, Anderson-Fabry disease.

Carpal tunnel syndrome- TTR related amyloidosis.

Muscle weakness- mitochondrial diseases, glycogen storage disorders, FHLI mutations, Friedreich’s ataxia.

Palpebral ptosis- mitchondrial diseases, Noonan/LEOPARD, myotonic dystrophy.

Lentigines/cafe au lair spots- LEOPARD/Noonan syndrome

Angiokeratomata/hypohidrosis- Anderson-Fabry disease

63
Q

ECG abnormalities suggestive of specific disease (cardiomyopathies)

A

see notes for european heart journal guidelines

64
Q

HOCM clinical presentations

A 
Sudden death 
Heart failure 
Angina 
Atrial Fibrillation 
Asymptomatic
65
Q

How is heart failure treated in hypertrophic cardiomyopathy?

A

LVOTO > 50 mmHg = management of LVOTO
LVOTO <50 mmHg = AF? rate control anticoagulation.
LVEF >50% = Beta blockers, verapamil or diltiazem, low dose loop and thiazide diuretics.
LVEF <50% = beta blockers, ACEi, MRA, low dose loop and thiazide diuretics.

Thereafter, consider cardiac transplant.

(see notes for more detail)

66
Q

Risk variables in the HCM Risk-SCD

A 
Age 
FH of SCD 
Unexplained syncope 
LV outflow gradient 
Max LV wall thickness 
LA diameter 
NSVT
67
Q

Recommendations for prevention of SCD in HCM

A

Avoidance of competitive sports
ICD implantation where VT or VF
HCM risk-SCD estimation of risk at five years (16+) - should be reevaluated every couple of years

(see notes for ICD recommendations)

68
Q

When is genetic counselling recommended in HCM?

A

When disease is not solely explained by non-genetic cause, whether of not genetic testing used to screen family.
Genetic counselling performed as part of MDT.

69
Q

Dilated Cardiomyopathy (def.)

A

Dilated cardiomyopathy (DCM) is a condition in which the heart’s ability to pump blood is decreased because the heart’s main pumping chamber, the left ventricle, is enlarged and weakened. In some cases, it prevents the heart from relaxing and filling with blood as it should.

70
Q

Incidence of DCM

A

1 in 2500 (7 per 100,000)
Low incidence in childhood
Males > females

71
Q

Genetic causes of DCM

A

Genetic mutations found in 20% of cases;
Sarcomere and desosomal genes
LaminA/C and desmin if there is conduction disease
Dystrophin if X-linked

72
Q

Risk prediction of DCM

A

LVEF = 35%

EPS not recommended

73
Q

Lamin A/C

A

Mutations in the Lamin A/C gene- present in 5-8% of familial DCM.
Associated with;
Progressive dilated cardiomyopathy
Atrioventricular block (first degree heart block)
SVT and VA
High risk of SCD
+/-Neuromuscular symptoms

(ICD considered where LMNA mutation and clinical risk factors)

74
Q

Clinical risk factors associated with DCM

A

Male
NSVT
Missense mutations
LVEF <45% at first evaluation

(ICD considered where LMNA mutation and clinical risk factors)

75
Q

Arrhythmogenic RV Cardiomyopathy (def.)

A

Fibro-fatty replacement of cardiomyocytes.
LV involvement in >50% of cases.
Autosomal dominant mutations in the genes for desmosomal proteins; autosomal recessive mutations in nondesmosomal genes.
1 in 1000-5000 prevalence
Cardiac mortality 0.9%/year.

76
Q

Risk factors for SCD in ARVC

A 
Family history of premature SCD
Severity of RV and LV function
Frequent non-sustained VT
ECG : QRS prolongation
VT induction on EPS
Male gender
Age of presentation
77
Q

Treatment recommendations in ARVC

A

Avoid competitive sports
Beta blockers (where PVC and NSVT)
ICD if history of SCD and VT
Amioderone considered is PVC or NSVT where contraindications to BB
Catheter ablation considered where patient unresponsive to therapy and prevent ICD shocks

ICD also considered where haemodynamically well tolerated VT balances risk of ICD, and in patients with one or more RF for VS with LE >1 year

78
Q

Why is pre-symptomatic identification of individuals at risk of SCD important?

A

SCD may be the only presentation.
Young age group at risk.
Effective therapies are available
- life style changes, beta blockers, ICDs,
Absence of co-morbidities, thus many years of benefit from therapeutic strategies.
Family members may also be at risk.

79
Q

What are complications associated with Transvenous Leads?

A 
Endocarditis
Perforation
Hemothorax
Pneumothorax
Thromboembolic events
Vascular complications
Lead fractures
Lead extraction complications
Lead dislodgement

(note- recommendations state ICD implantations should take into consideration the lifelong risk of complication and impact)

80
Q

When would subcutaneous defibrillators be considered as an alternative to transvenous defibrillators?

A

Where patient has indication for ICD when pacing therapy for bradycardia support, cardiac resynchronisation or antitachycardia pacing is not needed.
May also be considered when venous access is difficult, after the removal of transvenous ICD for infections or in young patients who require long term use.

81
Q

Issues with Inherited Cardiac Conditions in the young

A 
Psycho-social impact
Lifestyle
School
Sports
Pregnancy
ICD therapy
Employment
Life-insurance
Diagnosis and management : multidisciplinary approach
82
Q

What are the steps following SCD?

A

Making the diagnosis
Assessing relatives for disease and risk (DNA retention for genetic post mortem then genetic testing of family members)
Prevention of further events

83
Q

Cascade screening (def)

A

Cascade testing is the identification of close relatives of an individual with a disorder to determine whether the relatives are also affected or are carriers of the same disorder.
Produces a greater rate of case identification than general population screening.
Once a diagnosis is confirmed in an individual, testing is extended to first degree and second degree relatives.
If relatives test positive,
their first and second degree
relatives are approached and
offered testing, and so on.

Y1 Cardiology (9 decks)

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