Chapter 40

    Relatively rare lesion with an incidence of one case every 5,000 to 6,000 total births. The abnormality is typically seen in infancy and childhood, but can occasionally be recognized in adolescents and adults.
    Usually present in left ventricle, will produce a thicker myocardium at that level with fibrous and collagenous deposition underneath the endocardium level. Endocardial fibroelastosis may also occur in the right side as in pulmonary stenosis or pulmonary atresia. The basic hemodynamic result is a restrictive type of cardiomyopathy with L.V.H. and gross dilatation of L.V. in most of the cases which frequently course associated with gross mitral insufficiency.
    There are two different groups of patients with this disease as follows:

Type a)		Secondary EFE: Congenital aortic stenosis Aortic coarctation VSD PDA Left coronary artery arising from pulmonary artery Pulmonary stenosis or atresia
Type b)		Primary EFE:: No associated malformation is present (many times, however, can be associated with previous virus infection or storage disease. Intrauterine mumps infection may be associated in as much as 40% of these patients.)

CLINICAL PICTURE

    This is one of the most frequent cases of CHF in infancy. Restlessness, poor feeding, crying, cough and tachypnea are the most frequent manifestations of CHF in early infancy. Peripheral cyanosis secondary to low cardiac output or failure can be present in severe cases.
    Jugular distention can be very often seen along with a protruding abdomen due to liver enlargement.
    The symptoms appear early in life usually before the third month of age and if significant CHF develops, these patients rarely survive one year.
    The regular signs of CHF are usually present as: JVD, tachypnea, ventricular gallop (S3), expiratory wheezes, liver enlargement, pulsus alternans, poor feeding, crying, sweating.
    Due to the common association of EFE and mitral insufficiency, a loud murmur of Ml is present in approximately 70% of these patients. Atelectasis of the left lower lobe is frequent due to the bronchial obstructions which many times result from the gross cardiomegally.

ELECTROCARDIOGRAM

    Shows L.V.H. with axis located in a normal position or deviatedtoward the left.
    ST-T changes of L.V. hypertrophy are very often seen.

ROENTGENOGRAM

    Gross cardiomegally in 80% of cases.
    Moderate cardiomegally in 20% of cases.
    Hypomotility of L.V. during fluoroscopy.
    Left lower lobe atelectasis in 30 to 40% of cases of gross cardiomegally.
    Pulmonary blood flow from normal to gross pulmonary edema.

CARDIAC CATHETERIZATION AND ANGIOGRAPHY

    Is not typical but useful in differential diagnosis and evaluation of patients with the secondary type of EFE.

Cardiac Cath:		Elevation of L.V.E.D.P.: PWP elevation (wedge) Search for aortic or pulmonary stenosis gradients Calculation of cardiac output
Angiography:		Marked left ventricular. hypertrophy with increased: trabeculation at times Marked diffuse hypokinesia of ventricle

TREATMENT

    Control of CHF and upper respiratory tract infections.

PROGNOSIS

    Death will eventually suprevene in CHF in 60 to 80% of cases. Few patients recover.