Enzyme replacement therapy (ERT) is a recent tool in treatment for cardiomyopathies (CMP) in Pompe’s disease(PD) .ERT by MYOZYME(alfa-alglucosidase)intravenously can reduce hypertrophy and improve cardiac function.We describe prenatal echocardiographic (E)diagnosis and follow-up of a case of familial PD.
In this 6th pregnancy diagnosis was confirmed on 17th week (W) by fetal blood analysis .Parents refused pregnancy interruption; ultrasound examination at third trimester evidenced prefrontal oedema and enlarged heart . Fetal E on 31st W established CMP with right and left ventricular (LV)enlargement ,wall thickening , tricuspid regurgitation, moderate LV dysfunction (shortening fraction SF:25%);one month later LV function was deteriorating and induced delivery planned.At birth the baby(4.2 kgs b.w.at 37th W) required respiratory assistance ,vasodilators and diuretics ;he was breathing spontaneously and breast feeding in 2nd W. After pretreatment investigations and MRI he had first ERT injection in day 18th and was discharged two days later .He is now on MYOZYME 20mg/kg twice monthly, doing well ,active and beginning to stand up. Neonatal E confirmed CMP and follow-up showed regression of hypertrophy and cardiac function recovery : SF 13% at birth improved to 32% and interventricular septum thicker than 2SD at birth, normalized.
Conclusion: in our case of Pompe’s CMP LV function dramatically worsened during last month of pregnancy but quickly recovered with ERT. Best results are obtained with ERT early in life therefore pregnancies at risk for PD should have fetal E monitoring.If cardiac dysfunction is assessed early delivery should be scheduled for optimal management and ERT.