Familial cardiac myxoma--a comprehensive review of reported cases

Cardiac myxoma with familial involvement is a rare manifestation of an uncommon tumor, which nevertheless has been reported with increasing frequency in the past two decades. As a feature of the hereditary Carney syndrome, cardiac myxoma occurs at a much younger age, often has multicentric origins, and tends to recur. We report the case of a family in which three members had cardiac myxoma and two had other characteristics of the Carney syndrome.

We have made a comprehensive review of the international literature from 1971-1992 to determine the incidence and clinical presentation of cardiac myxoma when diagnosed in more than one family member or first-degree relative.

Twenty-six cases of familial cardiac myxoma, involving 68 family members, have now been reported in the United States, Europe, and Australia. One-fourth of these reports have appeared in the past 4 years alone. The rate of diagnosis at autopsy has declined from 40% in early reports to a current 17%. Seventeen episodes of recurrence (25%) at the same or different intracardiac sites have been documented, approximately twice the rate of recurrence in isolated cases.

The diagnostician should be alert for evidence of cutaneous, endocrine, or testicular features of the hereditary Carney syndrome in young patients who have cardiac myxoma. In the families of these patients, all first-degree relatives should be examined regularly for evidence of cardiac myxoma.