Assessing the criteria for definition of perimembranous ventricular septal defects in light of the search for consensus

Justin T. TretterEmail author View ORCID ID profile,
Vi-Hue Tran,
Seth Gray,
Hieu Ta,
Rohit S. Loomba,
William O’Connor,
Diane E. Spicer,
Andrew C. Cook and
Robert H. Anderson

Orphanet Journal of Rare Diseases201914:76

https://doi.org/10.1186/s13023-019-1044-2

Received: 23 January 2019
Accepted: 5 March 2019
Published: 3 April 2019

Abstract

Background

Discussions continue as to whether ventricular septal defects are best categorized according to their right ventricular geography or their borders. This is especially true when considering the perimembranous defect. Our aim, therefore, was to establish the phenotypic feature of the perimembranous defect, and to establish the ease of distinguishing its geographical variants.

Methods and results

We assessed unrepaired isolated perimembranous ventricular defects from six historic archives, subcategorizing them using the ICD-11 coding system. We identified 365 defects, of which 94 (26%) were deemed to open centrally, 168 (46%) to open to the outlet, and 84 (23%) to the inlet of the right ventricle, with 19 (5%) being confluent. In all hearts, the unifying phenotypic feature was fibrous continuity between the leaflets of the mitral and tricuspid valves. This was often directly between the valves, but in all instances incorporated continuity through the atrioventricular portion of the membranous septum. In contrast, we observed fibrous continuity between the leaflets of the tricuspid and aortic valves in only 298 (82%) of the specimens. When found, discontinuity most commonly was seen in the outlet and central defects. There were no discrepancies between evaluators in distinguishing the borders, but there was occasional disagreement in determining the right ventricular geography of the defect.

Conclusions

The unifying feature of perimembranous defects, rather than being aortic-to-tricuspid valvar fibrous continuity, is fibrous continuity between the leaflets of the atrioventricular valves. While right ventricular geography is important in classification, it is the borders which are more objectively defined.