Differential Diagnosis for Cardiac Tumor in an Infant

The clinical presentation of an 8-month-old infant with an episode of unconsciousness, premature ventricular contractions, a single tumor in the left ventricle, and areas of calcification within the tumor on chest x-ray suggests a cardiac tumor. The key to narrowing down the differential diagnosis lies in the combination of clinical findings, imaging characteristics, and genetic associations.

• Single Most Likely Diagnosis

  • Tuberous Sclerosis: This genetic disorder is known for its association with cardiac rhabdomyomas, which are benign tumors that can occur in the heart. The presence of a single tumor in the left ventricle with calcifications, along with the infant's age and symptoms, strongly suggests tuberous sclerosis. Rhabdomyomas are often diagnosed in infancy and can cause arrhythmias or obstructive symptoms, leading to episodes of unconsciousness.

• Other Likely Diagnoses

  • Carney Complex: Although less common, Carney complex is another genetic disorder that can present with cardiac myxomas, which are different from rhabdomyomas. However, myxomas are more typically found in adults and are less likely to have calcifications. The clinical presentation could fit, but the age and specific findings make it less likely than tuberous sclerosis.
  • Gorlin-Goltz Syndrome: This syndrome is associated with basal cell nevus syndrome and can include cardiac fibromas, which are rare, benign tumors. While cardiac fibromas can present in infancy and may have calcifications, they are less common than rhabdomyomas in this age group.

• Do Not Miss Diagnoses

  • Von Hippel–Lindau Syndrome: Although primarily associated with hemangioblastomas and clear cell renal carcinomas, Von Hippel–Lindau syndrome is less commonly linked with cardiac tumors. However, given its potential for serious and life-threatening complications if not recognized early, it should be considered, especially if other systemic findings suggestive of the syndrome are present.

• Rare Diagnoses

  • Other rare genetic syndromes or conditions could potentially present with cardiac tumors, but given the specific findings in this case (age of the patient, nature of the tumor, and presence of calcifications), they are less likely. These might include familial myxoma syndromes or other very rare genetic conditions associated with cardiac tumors. The key is recognizing the most common associations first, such as tuberous sclerosis with rhabdomyomas.