Complete atrioventricular septal defect: a clinicopathologic study of 35 cases / 中华病理学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the autopsy characteristics, pathologic type, malfomation and genetic characteristics of complete atrioventricular septal defect (CAVSD).</p><p><b>METHODS</b>Thirty five cases of CAVSD were collected from Maternal and Child Hospital of Haidian District during Jan.2003 to Jan.2015. Autoptic material, clinical history and chromosome examination were reviewed.</p><p><b>RESULTS</b>Among 35 cases of CAVSD between 18-38 gestational weeks, there were 26 cases with CAVSD A (74.3%, 26/35), 1 case with CAVSD B (2.8%, 1/35) and 8 cases with CAVSD C (22.8%, 8/35). Only CAVSD malformation was seen in 4 cases (11.4%, 4/35). Multiple malformations were seen in 31 cases (88.6%, 31/35). Combined malformations most frequently occurred in cardiovascular, respiratory and locomotor system. Among 15 cases with chromosome examination, chromosome aberrations was found in 13 cases (13/15) and trisomy-21 was found in 11 cases (11/15).</p><p><b>CONCLUSIONS</b>CAVSD is a rare disease and CAVSD A is the most common type. CAVSD is usually combined with other malformations and chromosome aberrations.</p>