MYOCARDIAL DYSPLASIA IN A 3RD-TRIMESTER FETUS - AN ULTRASOUND AND PATHOLOGICAL-STUDY

Arrested myocardial development, often described as spongiosum heart, has been reported in association with obstructive semilunar valve dise ase and, much more rarely, as a primary disease in adolescents and adu lts. To our knowledge, this condition has never been diagnosed in uter o. We describe the echocardiographic and pathoanatomic findings of the Ist case of myocardial dysplasia detected in utero by ultrasound. A 2 8-year-old woman, gravida 2, para I, was referred to our unit at 34 we eks of gestation due to severe fetal hydrops. On echocardiography, we observed gross fetal cardiomegaly (particularly of the septal and vent ricular myocardium), an unusually bright myocardial echostructure, thi ck trabeculations in both ventricular chambers, and severe loss of myo cardial contraction. There were normal ventriculoarterial connections and no signs of obstructive semilunar valve disease. After fetal death , necropsy confirmed the presence of spongiosum heart and the diagnosi s of myocardial dysplasia-which term best describes this disorder in i ts various temporal expressions. Because this condition has never befo re been observed prenatally no consideration has been given 50 intraut erine management We recommend that fetal cardiac function be monitored echocardiographically whenever a pregnant patient has a positive fami ly history of this disease. There is a possibility that the life of th e affected fetus might be prolonged beyond the gestational period by a voiding intrauterine cardiac decompensation, through early delivery. W e recommend further that the parents of these children be advised of t he risks associated with future pregnancies. Little is known about the pattern of inheritance of myocardial dysplasia, but the disorder appe ars to be familial. Therefore, the possibility that it may recur withi n the same generation must be taken into account.