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Lecture 4.1 - Congenital heart diseases

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What is the primary method of detection for congenital heart defects in the prenatal period?

Prenatal ultrasound

Which of the following congenital heart defects is characterized by a left-to-right shunt and increased pulmonary blood flow?

Atrial Septal Defect

What is the common feature of congenital heart defects such as Atrial Septal Defect, Ventricular Septal Defect, and Patent Ductus Arteriosus?

Increased pulmonary blood flow

What is the primary reason why congenital heart defects do not typically cause cyanosis in the fetal period?

The placenta provides adequate oxygenation

Which of the following syndromes is a common cause of congenital heart defects, including Atrial Septal Defect and Ventricular Septal Defect?

Down syndrome

What is the typical gestational age at which congenital heart defects are screened for?

20 weeks

What is the primary reason for right ventricular dilation in patients with Atrial Septal Defect?

Excess blood in the right atrium and right ventricle

Which of the following is a characteristic of Primum ASD?

Septum primum doesn't reach septum intermedium

What is the effect of increased pulmonary artery hypertension on the lungs?

Blood leaks out of pulmonary arteries and excess fluid flows into the lungs

What is the difference between Atrial Septal Defect and Patent Foramen Ovale?

Atrial Septal Defect occurs when the foramen ovale doesn't close, while Patent Foramen Ovale is a defect in the septum primum

What is the cause of dyspnoea in patients with Atrial Septal Defect?

Blood in the lungs due to pulmonary oedema

What is the characteristic murmur heard in patients with Atrial Septal Defect?

Systolic ejection murmur

Which of the following is a risk factor for Atrial Septal Defect?

All of the above

What is the consequence of increased venous congestion in patients with Atrial Septal Defect?

Raised JVP and hepatomegaly

What is the characteristic murmur of a ventricular septal defect?

Holosystolic murmur at the apex

What is the consequence of a large ventricular septal defect?

Dilation of the left atrium and left ventricle

What is the effect of a ventricular septal defect on pulmonary artery pressure?

It increases pulmonary artery pressure

What is the common feature of a patent ductus arteriosus and a ventricular septal defect?

Left-to-right shunt

What is the mechanism that keeps the ductus arteriosus open in a patent ductus arteriosus?

Prostaglandins

What is the characteristic of a small ventricular septal defect?

It creates a loud murmur

What is the consequence of a patent ductus arteriosus?

Increased pulmonary artery pressure and left heart dilation

What is the most common congenital cardiac malformation?

Ventricular septal defect

Study Notes

Congenital Heart Defects

  • Present from birth, detected through prenatal ultrasound (~30 years) at 20 weeks gestation
  • Can be classified as cyanotic and acyanotic
  • Most defects permit months of intrauterine life, resulting in live offspring at full term

Acyanotic Congenital Heart Defects

  • Characterized by left-to-right shunt, where oxygenated blood flows to deoxygenated blood
  • Does not cause cyanosis
  • Increased pulmonary blood flow
  • Common causes: Down syndrome, Foetal alcohol syndrome, Intrauterine infections
  • May lead to stroke due to increased risks of blood clotting (paradoxical clot formation)

Ventricular Septal Defect (VSD)

  • Membranous VSD (more common) and Muscular VSD
  • Most common congenital cardiac malformation
  • Left-to-right shunt, increased pulmonary artery hypertension (PAH)
  • Large defects may lead to dilation of left atrium and left ventricle (displaced apex beat)
  • Ventricular preload increases
  • Holosystolic (or pansystolic) murmur at the left sternal angle, loud S2, and diastolic rumble (apical)
  • Excess blood flowing through the mitral valve can be felt at the left sternal border
  • Smaller VSDs create larger murmurs and vice versa

Patent Ductus Arteriosus (PDA)

  • Blood from the aorta crosses the ductus arteriosus and flows into the pulmonary artery
  • Continuous 'machinery' murmur best heard below the left clavicle
  • Increased pulmonary artery pressure
  • Left heart dilation (displaced apex beat) and volume overload
  • Prostaglandins keep the ducts open

Atrial Septal Defect (ASD)

  • Primum ASD, Secundum ASD (more common), and Sinus venosus defects
  • Most common congenital heart defects found in adults
  • Left-to-right shunt, excess blood in the right atrium and right ventricle
  • Right ventricular dilation: parasternal heave, reduced CO, sympathetic activation
  • Increased pulmonary artery hypertension (PAH) and pulmonary oedema
  • Dyspnoea, recurrent chest infections, increased venous congestion, and raised JVP
  • Systolic ejection murmur, fixed splitting of S2, and diastolic rumble
  • Surgical repair may be necessary if volume is significant

This quiz covers congenital heart defects, which are present from birth and can be detected through prenatal ultrasound. Learn about the detection and classification of these defects.

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