OntoDiagram

Ontology Based Diagram

Generation
Congenital Heart Defects in Pediatric Cardiology
Kartik Vishwanath, Venkatesh Viswanath,
Yugyung Lee, Ph.D
School of Computing and Engineering
University of MissouriKansas City
William Drake, MD
Children's Mercy HospitalKansas City

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OntoDiagram
Application for pediatric cardiology that
generates Mullins like diagram based on domain
descriptions, clinical observations and
measurements
Mullins AtlasA collection of widely used
diagrammatic representation of anatomy of heart
structure (Mullins Diagram)
Mullins Diagrams are useful in hospital reporting
tools as they efficiently represent the defects
Given a description of heart by domain experts, the
system should automatically generate the Mullins
diagram representing the conditions as described
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Sample Mullins Diagrams
Pulmonary
Atresia
Tricuspid
Atresia
Complex
TOF
TAPVR LSVC
Why Generate Diagrams?
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Situs and Relations:
There is levocardia with visceral and atrial situs solitus, atrioventricular concordance (D-looped ventricles) and
normally related great arteries {S,D,S} noteVenous Connections:
There are normal systemic and pulmonary venous connections, with the superior and inferior vana cavae returning
normally to the right atrium, and all four pulmonary identified returning normally to the left atrium. noteAtria:
The left and right atria have normal chamber size, structure, and relations. noteAtrioventricular Valves:
The mitral and tricuspid valves have normal structure, size, placement and function. There is no mitral insufficiency
and only physiologic tricuspid insufficiency. noteVentricles:
There is normal left ventricular chamber size and normal subjective left ventricular funtion with flattened
interventricular septal motion. note There is normal right ventricular chamber size. note The right ventricle wall
thickness is moderately increased. note There is normal global left ventricular function. note There is flattened
interventricular septal motion. noteOutflow Tracts:
The left ventricular outflow tract has normal size and geometry, without stenosis or narrowing. note The right
ventricular outflow tract has moderate hypoplasia. note There is no subaortic conus. note There is marked right
ventricular outflow tract turbulence (stenosis). note The peak right ventricular outflow tract velocity is 4.1
meters/second. note The peak right ventricular outflow tract gradient is 67 mmHg. noteSemilunar Valves:
The aortic valve is normal, with three normal leaflets, normal mobility and no prolapse. note There is non-turbulent
flow and a normal flow velocity across the aortic valve with no evidence of stenosis. note There is marked
hypoplasia of the pulmonary valve annulus. note The pulmonary valve annulus measures 2.1 mm in the long axis
outflow view. note The peak velocity across the aortic valve is 1.3 meters/second. note The pulmonary valve leaflets
are moderately thickened. noteAortic Root Ascending Aorta:
The aortic root, including the sinuses of valsalva, sinotubular ridge, and proximal ascending aorta are normal without
stenosis, narrowing, or dilation. notePulmonary and Thoracic Arteries:
There was supravalvular pulmonary stenosis present. note There was hypoplasia of the main pulmonary artery. note
The left pulmonary artery appeared hypoplastic. note The right pulmonary artery appeared hypoplastic. note There
was a right-sided aortic arch present. note There was a patent ductus arteriosus visualized. note There was a right-
sided patent ductus arteriosus present. note There was left-to-right shunting demonstrated across the patent
ductus arteriosus. note There was a right aortic arch with a retroesophageal segment and left descending aorta
forming a vascular ring. noteSeptal Defects:
There is a malalignment type ventricular septal defect present. note The ventricular septal defect measures 12 mm from
the apical four-chamber view. note There is a moderate degree of aortic override. Fibro-annular continuity of the
aortic and mitral valves is present. note The aorta has about 50 per cent override. note
Comprehending textual
descriptions is time consuming!
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Diagram is easier to understand!
Complex
TOF
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Motivation
Visual representation is intuitively easier to
understand than text information.
Pediatric Cardiology faces new or variations of
heart defects
Mullins atlas are comprehensive but not
complete
Difficult to search and retrieve similar
diagrams
Domain experts manually draw diagrams by
hand or modify existing ones in Mullin's atlas
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Pulmonary Artery
Aortic stenosis
Tricuspid
insufficiency
Normal Bicuspid valve
Mitral valve cleft
Coarctation
Right-left shunt
PDA
Patent Foramen Ovale
Bifurcation of PA anterior
Overriding Aorta
True PA
Parachute
Mitral Valve
hypoplasia
above
below
Hidden behind
Component sheared
Scaled along long axis
connections
missing
translation
transposition
translation
Ontological Framework
Diagram World
Domain World
Domain Experts Perspective
Diagram Perspective
Heterogeneity
of
Perspectives
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Challenges
Heart Structuresimple & complex
Mapping domain knowledge onto diagram specifications
Perspective and representational gap between medical
domain and diagram domain
Domain Modeling
Modeling congenital defect information
Modeling anatomical structure
Implicit domain knowledge
Anatomical consequence of defects
Diagram Modeling
Individual component modeling
Spatial orientation between components
Transformations on components to reflect changes
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Heart Structure
Simple & Complex
Simple
An anatomically simple structure
Intuitively hierarchical part-of relationships (left
heart, right heart, etc.)
Heart components are less in count
Anatomically new additions are very less and
predictable
Complex
Variations of each component are large
Variations of heart as a whole are diverse
Complex relationship between various anomalous
conditions

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Simple Complex
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OntoDiagram: Focus
Translation from domain description to diagram





Key issues
Domain modeling (Ontology approach)
Diagram modeling (Component based approach)
Mapping domain onto diagram (Domain rules)
OntoDiagram
Physicians description Diagram
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OntoDiagram Architecture
Congenital
Heart Defect
Ontology
Heart
Anatomy
Ontology
Diagram
Ontology
OntoDiagram
Query
Interface
Diagram
Composer
Diagram
repository
Databases
Medical
Database
Medical
Database
Measurement
Ontology
Domain Ontologies

Domain Rules
Diagram Ontology
Mapping System
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Walk through the System
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Ontologies
An ontology is an explicit formal specification of the
terms in the domain and relations among them (Gruber
1993).
To share common understanding of the domain
knowledge on congenital heart defects among
cardiologists, nurse, database engineer or software
agents
To make domain assumptions explicit so that defect
associations patterns could be extracted
To separate domain knowledge from operational
knowledge
To map different perspectives of domain and diagram
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Domain Modeling
Modularizing domain knowledge
Congenital Heart Defect Ontology [UMLS]
Classification of defects, anomalous conditions
Definition for domain terms like stenosis, atresia, etc.
Anatomical consequences of defects
Association between defects
Anatomy ontology [FMA]
Multi-perspective classification of heart anatomy
Possible anatomical changes in each heart component
Orientation between components
Measurement and Diagram Ontology [LOINC]
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Diagram Modeling
Diagram Models
Component Association Model (Spatial Orientation
between components)
Structure Model (Component hierarchy)
Conversion Model (Transformations)
Annotation Model (Relevant annotations)
Diagram perspective of changes
Abnormal growth
Missing parts
Transposition
Transformation
Combination

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Component Association Model
Spatial relations with components and their neighboring
components
Six-tuple {Ct, Cn, D, A, O, P} where
Ct and Cn components, Dspatial orientation of Ct with respect to Cn,
Ainterface presence, Oorientation, Ppresence of component
e.g. {Descending Aorta, Aortic Arch, bottom, attached, below, present}

bottom
top
right
top
top
top
right right
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Structure Model
The heart is considered to be made of
two layers
The first layer consisting of the
chambers of the heart (wall of atria
and ventricles)
The second layer consists of the
other components of heart
(Pulmonary artery and Pulmonary
valves, Aorta and Aorta valves, etc.)
The relationships between the first and
the second layer components
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Interface Points & Gate Points
ComponentComponent
LayerLayer
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Conversion Model
Transformation of components
Geometric transformation (e.g., Scale, Rotate, Translate)
Polynomial transformation (e.g., Shear)
Domain specific transformation (e.g, dilation, coarctation)
Transformation model defined as {C
T
,T, P}
C
T
component being transformed
Tname of the transformation
Ptransformation parameters


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Hierarchical Composition
Hierarchical
model closer to
domain
perspective

Faster diagram
generationfew
components
change

Optimal selection
of components
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Hierarchical Composition Steps
Step 1: Configuration
1. Identify an appropriate set of components and their
abstraction level to be composed [Congenital Defects and
Association models]
2. Determine the components to be transformed [Conversion
Model]
3. Determine the relationships between components (below,
above) [Component Structure Model]
Step 2: Composition
Starting from the most specific level to the root
1. Transform component images using the transformation
operations if necessary (scale, rotation, etc)
2. Rank the components [Image Model - Color Schema]
3. Compose the components using interface points [Structure
Model]
4. Forward the interface points to the upper level
Step 3: Annotation
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Diagram
Composer
Congenital
Heart Defect
Ontology
Anatom
y
Ontolog
y
Measurement
Ontology
Diagram
Ontology
Mapping System
Domain
Description
Diagram Instruction Files
Domain
ontologies
Ontological Framework
OntoDiagram
System
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OntoDiagram Prototype
Constructed domain ontologies using the
protg in OWL.
Implemented the query interface in Java
using the Jena.
Implemented the image composition
module using the Java Advanced Imaging
package.

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Sample Output
(Patent Ductus Arteriosus)
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Conclusion
The domain descriptions of the congenital heart
defects are mapped to generate a diagrammatic
representation of defects.
Ontology based domain modeling
Component based diagram modeling
Rule based mapping between domain and diagram
Hierarchical composition of components

A prototype system is currently under testing at
the Childrens Mercy Hospitals and Clinics
facilitate existing treatments for managing patients
with severe heart disorders.