Congenital heart defects Flashcards

1
Q

Teratogen

A

Any agent or substance which can cause malformation of an embryo or birth defects.

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2
Q

Critical period of heart development

A

From about day 20 to 50.

However, deviation from normal pattern of development at any one time may produce one or more cardiovascular defects.

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3
Q

Clinical features of congenital heart defects

A
  • Vary from asymptomatic through full spectrum to incompatible with life.
  • Susceptible to infective endocarditis.

Common symptoms

  • Breathlessness
  • Failure to attain normal growth or development

Clinical signs (Vary with anatomical lesions)

  • Clubbing
  • Cyanosis
  • Murmurs, thrills
  • Cardiomegaly
  • Radio-femoral delay
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4
Q

Classification of congenital heart disease

A

Embryological origin of classification

  • Abnormalities of position
  • Abnormalities of interatrial septum
  • Abnormalities of interventricular septum
  • Abnormalities in the division of the truncus arteriosus
  • Abnormal transformation of aortic arches
  • Persistence of fetal circulation

Clinical classification

  • Cyanotic
  • Acyanotic
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5
Q

Abnormalities of position

A
  • Dextrocardia (isolated)
  • Dextrocardia (situs inversus)
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6
Q

Isolated dextrocardia symptoms

A

Often associated with other (severe) cardiac anomalies (e.g. transposition of great vessels, single ventricle).

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7
Q

Situs inversus symptoms

A

Usually none.

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8
Q

Abnormalities of interatrial septum

A

Atrial septal defect

  • Secundum type (most common)
  • *Primum *type
  • Patent foramen ovale
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9
Q

Clinical presentation of ASD

A

Female: Male = 2:1

Symptoms

  • Often asymptomatic for many years
  • Dyspnoea, chest infections, cardiac failure, arrhythmias (especially AF)
  • Eisenmenger’s syndrome (rarely)

Clinical signs

  • Fixed splitting of S2
  • Systolic flow murmur over pulmonary valve (often no murmur)
  • Secundum type - often associated valve abnormalities/murmurs

Management

  • Surgical repair
  • Cardiac catheterisation - implantable closure device
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10
Q

Abnormalities of interventircular septum

A
  • VSD most common CHD
  • Membranous VSD
  • Muscular VSD
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11
Q

Clinical presentation of VSD

A

Symptoms

  • May be asymptomatic if small
  • Tachypnoea, indrawing of lower ribs on spiration
  • Cardiac failure (4-6 weeks)
  • Eisenmenger’s syndrome

Signs

  • Harsh pansystolic murmur, maximal at LSE
  • Murmur often louder when defect is small
  • Third or fourth heart sound
  • Often palpable systolic thrill
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12
Q

VSD management

A
  • Cardiac failure treated medically with digoxin and diuretics
  • Persistent failure is indicated for surgical closure (percutaneous closure devices).
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13
Q

Abnormalities in the division of the truncus arteriosus

A
  • Persistent truncus arteriosus
  • Complete transposition of the great vessels
  • Pulmonary valve anomalies
  • Tetralogy of the fallot
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14
Q

Tetralogy of the fallot

A
  1. Pulmonary stenosis (outflow obstruction)
  2. R ventricular hypertrophy
  3. Over-riding aorta
  4. VSD
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15
Q

Abnormalities in the division of the truncus arteriosus clinical features and management

A
  • All severe
  • Cyanosis characteristically develops shortly after birth
  • Dyspnoea/apnoea
  • Clubbing

Management

  • Early surgical intervention
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16
Q

Abnormal transformation of aortic arches

A
  • Coarctation of the aorta
  • Double aortic arch
17
Q

Coartctation of the aorta clinical features and management

A

Male: female = 2:1

Symptoms: depends on site of coarctation

Signs:

  • Radio-femoral delay (radio-radial delay)
  • Weak femoral pulse
  • Midsystolic murmur over praecordium and back
  • Upper limb HTN
  • Upper body may be better developed than lower body

Management:

  • Surgical correction
  • Balloon dilation
18
Q

Main problem with double aortic arch

A

Main syptoms: problem with swallowing or regurgitation

19
Q

Persistence of fetal circulation

A
  • PDA
  • PFO (see ASD)
20
Q

PDA clinical presentation

A

Symptoms

  • Often asymptomatic in infancy
  • Dyspnoea
  • Progressive symptoms of cardiac failure

Signs

  • Collapsing pulse
  • Continuous loud ‘machinery’ murmur maximal at first left intercostal space
  • Progressive signs of cardiac failure
  • Eissenmenger’s Syndrome - late

Management

  • Cardiac catheterisation - implantable occlusive device
21
Q

Acyanotic CHD

A
  1. VSD
  2. ASD
  3. PDA
  4. Coarctationo of the aorta
22
Q

Cyanotic CHD

A
  1. Tetralogy of Fallot
  2. Transposition of Great Vessels
  3. Persistent Truncus Arteriosis
23
Q

Eisenmenger’s syndrome

A

Pulmonary HTN and reversal of left to right shunt to right to left shunt.

Chronic left-to-right shunting through congenital heart defect (e.g. VSD, PDA). Produces severe pulmonary HTN.

Because deoxygenated blood mied in systemic circulation –> cyanosis.

24
Q

Clinical features of Eisenmenger’s syndrome

A

Symptoms

  • Dyspnoea
  • Featigue

Signs

  • Cyanosis
  • Clubbing
  • Loud P2
  • Polycythaemia –> stroke

Management

  • Heart - lung transplant usually required
25
Q

Causes of congenital heart defects

A

Genetic/chromosomal syndromes (20%)

  • ​Down syndrome
  • Turner syndrome
  • Trisomy 13 (Patau syndrome)
  • Marfan syndrome

Drugs/chemicals

  • Retinoic acid
  • Alcohol (foetal alcohol syndrome)

Infections

  • Rubella

Other (the vast majority)

26
Q

What type of CHD does down syndrome cause?

A

Endocardial cushion defects (ASD, VSD, atrioventricular canal defects).

27
Q

What type of CHD does Turner syndrome cause?

A

Coarctation of the aorta

Bicuspid aortic valve

28
Q

What type of CHD does trisomy 13 cause?

A

ASD, VSD.

Patent ductus arteriosis - PDA.

Dextrocardia (isolated)``

29
Q

What type of CHD does Marfan’s cause?

A

Aortic and mitral valve abnoramalities.

Aortic dissection

30
Q

CHD in retinoic acid

A

Septal defects most common.

31
Q

CHD and alcohol

A

VSD, ASD

32
Q

CHD in rubella

A

PDA