Geoffrey L. Rosenthal, MD, PhD November 9, 2010

Financial conflicts of interest: None

Identify most severe forms of cardiovascular disease in children

Discuss diagnosis and treatment of these disorders

Provide insight into the pervasiveness of “medicine” in the lives of families

Discuss functional limitations/expectations for children with these diagnoses

Address emerging science and research

Reduce backlog of cases by fast tracking applications

Reduce administrative costs of processing claims

Develop “List” of diagnoses which better discriminate children meeting cardiovascular disability criteria

Maintain a low rate of denying benefits when they should be allowed, and of allowing benefits when they should be denied

Identify diseases that are certain or near certain to cause disability or death within 12 months

Identify diseases that, by definition, cause disability

Single ventricle Hypoplastic Left Heart Syndrome (HLHS)▪ Aortic valve atresia

Tricuspid valve atresia Pulmonary atresia with intact ventricular

septum (PAIS or PAIVS)Long QTc Syndrome with aborted

sudden deathChildhood myocardial infarctionHeart transplantation

“Palliated” Cardiovascular Malformations, and “Repaired” Malformations with lifelong sequelae Single ventricle and complex two ventricle

lesions Channelopathies Cardiomyopathies Congenital Heart Disease with

comorbiditiesCongenital Heart Disease requiring specific

treatments/events

Hypoplastic left heart syndrome (HLHS) Aortic atresia, Mitral atresia, AA/MA

Pulmonary atresia with intact ventricular septum

Tricuspid atresia (all subtypes) Unbalanced atrioventricular canal (all

subtypes) Double inlet left ventricle Some forms of double outlet right ventricle Single ventricle with indeterminate

morphology

Diagnostic determination of single ventricle can be made with a very high degree of certainty using echocardiography

Resting cyanosis (paO2 < 60 Torr) pre-op and post-op while infants

Clinically significant risk of death in the first year of life (approximately 10-50+%)

Usually require 3 or more hospitalizations in first year of life for diagnosis, stabilization, surgery, and/or cardiac catheterization

Tetralogy of Fallot With pulm. atresia, absent pulm. valve syndrome,

discontinuous or hypoplastic pulm. arteries Transposition of the great arteries (d-TGA and

l-TGA, with or without other cardiac lesions) Pulmonary atresia with ventricular septal

defect and multiple aortopulmonary collaterals

Remaining forms of double outlet right ventricle

Critical aortic valve stenosis Shone’s complex Critical pulmonary valve stenosis

Total anomalous pulmonary venous return (all types)

Interrupted aortic arch (all types) Truncus arteriosus (all types) Ebstein’s anomaly diagnosed in

infancy (with or without associated lesions)

Heterotaxy syndrome (all types) Pulmonary vein stenosis/sclerosis

involving 2 or more pulmonary veins

Diagnosis of complex two ventricle lesions can be made with a very high degree of certainty using echocardiography

Precise anatomical diagnosis may require cMRI or cardiac catheterization

Resting cyanosis (paO2 < 60 Torr) pre-op for most, low cardiac output for remaining

Clinically significant risk of death in the first year of life (approximately 5-50+%)

Usually require 2 or more hospitalizations in first year of life for diagnosis, stabilization, surgery, and/or cardiac catheterization

Hospitalizations are often prolonged (LOS > 2 weeks)

Sequelae, residual lesions, need for nutritional support, need for home care is common

Long QT syndromesBrugada syndrome variantsAtrial arrhythmia syndromesShort QT syndromeCatecholaminergic ventricular

tachycardia

Diagnosis very reliable when based upon clinical features, family history, ECG, heart rhythm assessment, and genetic testing

Clinically significant risk of arrhythmia, syncope, and death

Most require medications and lifestyle modifications

Many have associated developmental/functional disabilities

Most require electrophysiology procedures, pacemaker, and/or internal cardioverter-defibrillator

Devices require lifestyle modification to prevent lead fracture and device malfunction

Devices may be associated with psychological symptoms (body image, anxiety, depression)

Often limit age-appropriate abilities at home, in school, and in the community

Hospitalizations may be prolonged (LOS > 2 weeks)

Autosomal, Gonosomal, or Mitochondrial Acquired (infectious, post-infarction,

post-bypass, toxic, nutritional) Dilated Hypertrophic Restrictive Arrhythmogenic right ventricular

dysplasia Many occur within defined systemic

syndromes

Anomalous left coronary arising from the pulmonary artery (ALCAPA)

Kawasaki Disease with coronary artery aneurysms

Anomalous left coronary arising from the right cusp and passing between the aorta and the pulmonary artery

The causes of myocardial infarction in children are different than in adults, but the outcomes are similar

Diagnosis very reliable when based upon clinical features, physiological assessment, family history, echocardiography, and genetic testing

Significant risk of arrhythmia, syncope, and sudden death

Most require medications, lifestyle modifications

Most have significant functional limitations Many have associated developmental

disabilities Some require palliative surgery, internal

cardioverter-defibrillator

Pediatric Heart Transplantation – Medical Urgency Status Codes

Status 1A and 1B patients meet criteria for compassionate allowance prior to transplant

Status 1A - “Registrant less than 18 yrs of age and meets at least one of the following criteria: (a) requires assistance with a ventilator; (b) requires assistance with a mechanical assist device; (c) requires assistance with a balloon pump; (d) is less than 6 months old with congenital or acquired heart disease exhibiting reactive pulmonary hypertension at greater than 50% of systemic level; (e) requires infusion of high dose or multiple inotropes; or (f) meets none of the criteria specified above but has a life expectancy without a heart transplant of less than 14 days”

Status 1B - “Registrant who (a) requires infusion of low dose single inotropes, (b) is less than 6 months old and does not meet the criteria for Status 1A, or (c) exhibits growth failure (see OPTN policies for definition).

Prematurity <37 weeks gestation Neuroradiographic signs of injury Microcephaly Post-operative seizures Developmental delay identified before

1 year of age Multiple congenital anomalies Syndromes associated with

developmental delay and functional impairment (Down, Williams, DiGeorge, CHARGE, Noonan, Jacobsen)

Length of stay in ICU > 2 weeksNeed for Cardiopulmonary

resuscitationNeed for mechanical circulatory

support (ECMO, VAD)Need for tracheostomyNeed for continuous infusion of

pulmonary vasodilators or inotropes

Prior fetal intervention

Thank you, Questions?