A Newborn in Acute Respiratory Distress: USMLE Question of the Week

February 23, 2018

Answer: B. Tuberous sclerosis

Rhabdomyoma is the most common primary heart tumor in children. Cardiac rhabdomyomas are striated muscle hamartomas composed of altered cardiac myocytes. Development of cardiac hamartomas is the result of multiple genetic mutations. Mutations in the TSC1 or TSC2 genes are related to tuberous sclerosis, and cardiac rhabdomyomas and tuberous sclerosis have a strong association.

Symptoms depend on the size of the tumor and location relative to the conduction system. In most cases, rhabdomyomas are located in the ventricles (interventricular septum or ventricular wall). Cardiac rhabdomyoma may be detected on routine antenatal sonography. Other major findings may include arrhythmias, cerebral lesions, hydrops, and stillbirths.

Respiratory distress, cardiac arrhythmias, murmurs, and cardiomegaly are the main signs initially in the neonate. Tuberous sclerosis is an autosomal dominant phakomatosis disorder characterized by varied clinical manifestations, such as seizures, mental retardation, skin lesions, and multiple hamartomas that affect multiple organ systems (ie, heart, brain, and kidney).

Major Takeaway: Rhabdomyoma is the most common heart tumor found in children. Development of cardiac rhabdomyoma is strongly related to genetic mutations associated with tuberous sclerosis.

For more on rhabdomyoma, read here.

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