Sir,
We read the interesting paper by Singh and PettersenReference Singh and Pettersen1 reporting on a patient with Down’s syndrome with atrioventricular septal defect and common atrioventricular junction, common arterial trunk and aortic coartation. The association between atrioventricular septal defect with common arterial trunk and usual atrial arrangement is very rare.Reference Marino, Ballerini, Quero Jimenez and Martinez2 Because of this, therefore, we report here on two interesting cases recently observed by our own group.
The first patient was a nonsyndromic neonate with atrioventricular septal defect with common atrioventricular valve and common arterial trunk with a confluent pulmonary arterial segment, the so-called “type 1”. Interestingly, this patient was the first cousin of a nonsyndromic child with interruption of the aortic arch between the left common carotid and subclavian arteries, the “type B” variant.Reference Digilio, Marino, Musolino, Giannotti and Dallapiccola3 The second patient had Down’s syndrome with common arterial trunk and interrupted aortic arch, who presented also a “cleft” of the otherwise normal mitral valve.Reference Francalanci, Gallo, Dallapiccola, Calabrese and Marino4
A common arterial trunk is extremely rare in patients with Down’s syndrome, but in both our second caseReference Digilio, Marino, Musolino, Giannotti and Dallapiccola3 and in the case reported by Singh and Pettersen,Reference Singh and Pettersen1 this malformation was associated with obstruction in the aortic arch, in spite of the fact that isolated aortic coarctation or interruption is very rare in the setting of trisomy 21. All these observations confirm the mysterious interrelations that still exist between genetics, familial recurrence and complex congenital cardiac defects.
