Anomalous origin of the right (ARPA) or left (ALPA) pulmonary artery from the ascending aorta is a rare congenital heart defect (CHD) [Abu-Sulaiman et al., 1998;Miyazaki et al., 2000], in which one pulmonary artery arises from the ascending aorta and the other pulmonary artery takes off from the right ventricle. ARPA and ALPA have been described as ''hemitruncus'' by some investigators. ARPA is about four to eight times more frequent than ALPA [Kutsche and Van Mierop, 1988;Abu-Sulaiman et al., 1998]. ARPA is generally diagnosed as an isolated defect, but associated CHDs include patent ductus arteriosus, aorto-pulmonary window, tetralogy of Fallot, interrupted aortic arch, and coarctation of the aorta [Kutsche and van Mierop, 1988]. ARPA is usually nonsyndromic and sporadic. We report familial recurrence of CHD in relatives of two nonsyndromic patients with ARPA, one of whom had recurrent ARPA and one who had aorto-pulmonary window.
Patient 1 in family 1 was a newborn male (Fig. 1A, V-3), who had an echocardiographic diagnosis of ARPA without an associated CHD. Details about the cardiovascular imaging and clinical management of this patient have been reported [D'Alto et al., 2004].
Patient 2 in family 1 (Fig. 1A, VI-1) was a newborn girl with an echocardiographic diagnosis of ARPA, patent ductus arteriosus, atrial septal defect, and aortic coarctation. The baby underwent surgical palliation of coarctectomy with a patch, division of the ductus arteriosus, closure of atrial septal defect, and connection of the right pulmonary artery to the pulmonary trunk by direct anastomosis with an autologous pericardial patch. The parents of patients 1 and 2 had normal two-dimensional echocardiograms. The pedigree indicates that V-6 (Fig. 1A) died at 21 days of life due to pneumonia, and II-4 (Fig. 1A)