We read with interest the paper by Becker et al. [1996] reporting the occurrence of congenital heart defect (CHD) in a large series of relatives of children with transposition of the great arteries (TGA). The overall recurrence risk of CHD in sibs of the probands was 0.82%, ranging from 0.27% to 2% depending on the type of TGA. This low rate of recurrence is similar to that reported in smaller series [Boughman et al., 1987;Nora and Nora, 1978;Sanchez-Cascos, 1978]. Our previous studies of 32 children with TGA demonstrated a different CHD in 1 father and 2 cousins [Melchionda et al., 1995]. Nevertheless, we would like to point out that in spite of the low heritability of TGA, rare instances of familial aggregation exceeding the expectation for multifactorial inheritance were presented previously [Fuhrmann, 1968;Rein et al., 1990]. We report here on the occurrence of D-TGA and intact ventricular septum in 2 branches of the same Gypsy family with consanguineous parentage (Fig. 1).
Case 1, IV-2 (Fig. 1), female, was known to be affected by CHD. Echocardiography and surgery demonstrated D-TGA with intact ventricular septum without additional anomalies. The patient underwent a successful arterial switch operation. The baby is now 6 months old. Phenotypical examination shows no other anomalies, and psychomotor development is normal. No extracardiac malformations have been detected at ultrasound examinations. The patient has a healthy dizygotic male twin (Fig. 1) with a normal heart at echocardiography.
Case 2, IV-3 (Fig. 1), male, is the first child of healthy consanguineous parents. At the time of birth the mother was 17, the father 21 years old. They were first cousins. The infant was born vaginally at term after an uncomplicated pregnancy. Birth weight was 3,200 g, length 49 cm, OFC 33 cm. Apgar scores were 8 at 1 min, 9 at 5 min. The infant was born with a receding fore-