Congenital heart disease

Congential heart disease is a niche area of a niche area.

Ventricular septal defect

• Most common congenital heart defect.

Tetralogy of Fallot (TOF)

General

• Most common cause of a blue baby.

Etiology

• Abnormal septation of the truncus arteriosus.

Definition

Features:

• Right ventricular hypertrophy,
• Right ventricular outflow tract obstruction,
• overriding aorta,
• VSD (ventricular septal defect).

Notes:

• Overriding aorta = aorta has a biventricular connection --takes blood from the right ventricle.
• Tight ventricular outflow tract obstruction is usually subpulmonic stenosis.

Atrial septal defect

• May be seen in adults.

Clinical

• Fixed S2 split.

Classification

Types:

• Ostium secundum (most common) - between SVC and IVC.
• Ostium primum - between SVC and IVC closer to RV.
• Upper sinus venosus defect - at SVC.
• Lower sinus venosus defect - at IVC.
• Coronary sinus defect.

The ostium secundum are the most common and usually found in isolation, i.e. there are not other associated abnormalities.

Left hypoplastic heart syndrome

Defintion:

• Physiologically inadequate left ventricle.

Key characteristic:

• Atrial septal defect (ASD) -- left-to-right shunt.

Causality:

• Mitral stenosis.
• Left ventricular hypoplasia.

Associations:

Transposition of great vessels

• Aorta and pulmonary trunk hooked-up to the wrong ventricle.
  • Survivable after birth only if there is a functional shunt, e.g. (persistent) patent ductus arteriosus and/or atrial septal defect.
  • When the ductus arteriosus closes they are in trouble.

Splenic abnormalities

Asplenia is associated with cardiac abnormalities:

• Aspenia = Boys, Bad congenital malformations (transposition of great vessels, pulmonary atresia/stenosis, totally anomalous pulmonary return).
  • Interesting is that these are all right-to-left shunts.

For completeness... polyspenia associations:

• Polyspenia = Girls, Good prognosis, Gastrointestinal situs inversus.

Eisenmenger syndrome

Definition:

• Pulmonary arterial hypertension with a
• Right-to-left shunt (that was initially left-to-right), and
• Cyanosis.

Note: Eisenmenger syndrome, by definition in some sources, is (only) due to a VSD.

Causes:

• ASD - rarely causes Eisenmenger syndrome.
• VSD.
• Extra-cardiac shunt.

• End-stage disease often characterized by fibrinoid necrosis of small pulmonary arterial vessels (arterioles & small arteries).

Cor pulmonale

Pulmonary hypertension due to heart disease.

Pulmonary hypertension

Pressure - definition:

• Mean pulm. arterial pressure >25 mmHg at rest.

See also

• Cardiovascular pathology.