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The Heart of Surveillance:
Tips on Coding
and
Syndromes Associated with Congenital Heart Defects
Presenters:
Angela Lin, MD, FAAP, FCMG, Clinical Geneticist,
MassGeneral Hospital for Children,
Massachusetts Center for Birth Defects Research and Prevention
Tiffany Colarusso, MD, FAAP, Pediatrician, Metropolitan Atlanta
Congenital Defects Program, CDC
The sessions are now available through
the Members Only Section NBDPN
website.
SUMMARY:
The Heart of Surveillance: Tips on Coding
Congenital heart defects (CHDs), also know as cardiovascular malformations,
are common birth defects. Their anatomic complexity and the variations
in cardiac nomenclature pose tremendous challenges to birth defect
surveillance programs (abstractors, coordinators, coding specialists,
clinicians). Analysts studying the data must also grapple with
complex hearts and codes.
The presenters will systematically review CHDs
and issues related to coding them. They will: 1) briefly review
CHD “families," starting with laterality, single ventricle,
looping and conotruncal defects, followed by atrioventricular canal
defects, right and left heart outflow obstruction, atrial and ventricular
septal defects, and anomalous pulmonary venous return; 2) discuss
options to code the defects referencing assorted coding schemes,
e.g. ICD-9 (4 digits), ICD-9-CM BPA (used by the MACDP); 3) present
options for detailed versus streamlined “heart classification” coding
which can be used in some programs or for analysis; 4) integrate
real-life sample cases throughout the discussion to enhance the
learning process.
Syndromes associated with Congenital
Heart Defects
Congenital heart defects (CHDs), also know as cardiovascular malformations,
occur as isolated birth defects in approximately 60-80% of affected
individuals. In the 20-40% of individuals with a CHD and non-cardiac
defect, a syndrome can be recognized in approximately 10-15%. Chromosome
abnormality syndromes are more common than Mendelian gene disorders.
The presenters will review a broad spectrum of
common as well as a few rare malformation syndromes and the associated
CHDs , with an emphasis on scope rather than in-depth discussion.
For each syndrome, the genetic basis, clinical and cardiac phenotype
will be reviewed. The combination s of syndrome and CHD which will
be highlight are “common syndromes with distinctive CHD pattern”, “common
syndrome with unremarkable CHD pattern”, and “uncommon
syndromes with distinctive CHD patterns”. The syndromes will
be categorized by genetic etiology including: 1) chromosome abnormality;
2) Mendelian gene disorders; 3) known Teratogens; and 4) conditions
with presumed but unproven genetic causation.
QUESTIONS: If you have any questions,
contact Ann Phelps at
Ann.Phelps@dshs.state.tx.us or Cara
Mai at cmai@cdc.gov.
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