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ultrasound diagnosis of fatal anomalies

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CARDIAC RHABDOMYOMAS

Cardiac Rhabdomyomas

Definition: The cardiac rhabdomyoma is a

benign tumor arising from the cardiac musculature.

Incidence: One in 20 000 births.

Sex ratio: M:F=1:1.

Clinical history/genetics: Sporadic. Autosomaldominant

inheritance when associated with

tuberous sclerosis of the brain.

Teratogens: Not known.

Embryology: Benign tumor of the heart musculature.

Associated malformations: In 50–86% of cases,

cardiac tumors are associated with tuberous

sclerosis of the brain. On the other hand, rhabdomyomas

are detected in 50% of fetuses with

tuberous sclerosis. Renal anomalies are also associated.

Ultrasound findings: Echocardiography demonstrates

an intracardiac tumor with a connection

to the ventricular septum. Tachyarrhythmias

Fig. 5.26 Cardiac rhabdomyoma. Solitarycardiac

rhabdomyoma of the ventricular septum, measuring

approx. 10 mm in diameter, at 22 + 1 weeks.

Fig. 5.27 Cardiac rhabdomyoma. Color flow mapping,

showing blood flow into both ventricles.

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