Inter- and intra-observer repeatability of aortic annulus measurements on screening CT for transcatheter aortic valve replacement (TAVR): Implications for appropriate device sizing.

OBJECTIVES: To investigate intra- and inter-observer repeatability of aortic annulus CT measurements for transcatheter aortic valve replacement (TAVR) by readers with different levels of experience and evaluate the impact of different multi-reader paradigms to improve prosthesis sizing. METHODS: 82 TAVR screening CTAs were evaluated twice by three raters with six (R1 = radiologist), three (R2 = 3D-laboratory technician) or zero (R3 = medical student) years of experience. Results were translated into hypothetical TAVR size recommendations. Intra- and inter-observer repeatability between single readers and three different multi-reader paradigms ([A]: two readers, [B]: three readers, or [C]: two readers + an optional third reader) were evaluated. RESULTS: Intra-observer variability did not differ significantly (range: 50.1-67.8mm2). However, we found significant differences in mean inter-observer variance (p = 0.001). Multi-reader paradigms led to significantly increased precision (lower variability) for scenarios [B] and [C] (p = 0.03, p < 0.05). Compared to single readers, all multi-reader strategies clearly lowered the rate of discrepant device size categorization between repeated measurements (22-26% to 5-10%). CONCLUSIONS: Aortic annulus CT measurements for TAVR are highly reproducible. Multi-reader strategies provide higher precision than evaluations from single readers with different levels of experience and could effectively be implemented with two readers and an optional third reader (Paradigm C) in a clinical setting.

A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).

Palindrome-mediated genomic instability has been associated with chromosomal translocations, including the recurrent t(11;22)(q23;q11). We report a syndrome characterized by extremity anomalies, mild dysmorphia, and intellectual impairment caused by 3:1 meiotic segregation of a previously unrecognized recurrent palindrome-mediated rearrangement, the t(8;22)(q24.13;q11.21). There are at least ten prior reports of this translocation, and nearly identical PATRR8 and PATRR22 breakpoints were validated in several of these published cases. PCR analysis of sperm DNA from healthy males indicates that the t(8;22) arises de novo during gametogenesis in some, but not all, individuals. Furthermore, demonstration that de novo PATRR8-to-PATRR11 translocations occur in sperm suggests that palindrome-mediated translocation is a universal mechanism producing chromosomal rearrangements.