Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities

Ciuffo et al. (1985) reported a family in which the 62-year-old mother and her 36-year-old son and 28-year-old daughter had a seemingly 'new' syndrome of pulmonary valve stenosis, secundum type of atrial septal defect, and unique EKG changes: superior axis (-88 degrees in the mother) and absence of anterior forces in the precordial leads. The mother, the proband, had successful balloon pulmonary valvuloplasty at age 62 years. The son had corrective surgery for the ASD and PS at age 13 years. The daughter had surgical transpulmonary valvuloplasty at age 11 years. The presence of ASD was indicated by widely and fixedly split second heart sound.