Pediatric and Congenital Heart Disease: Compassionate Allowances

1. Pediatric and Congenital Heart Disease:Compassionate Allowances Geoffrey L. Rosenthal, MD, PhD November 9, 2010

2. Disclosures • Financial conflicts of interest: None

3. Compassionate Allowances :Goals of Testimony • 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

4. Compassionate Allowances:Program Goals • 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

5. Compassionate Allowances:Program Goals • Identify diseases that are certain or near certain to cause disability or death within 12 months • Identify diseases that, by definition, cause disability

6. Compassionate Allowances:SSA Suggested Dx for Discussion • 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 death • Childhood myocardial infarction • Heart transplantation

7. Compassionate Allowances:Finding a Framework for “Severe” • “Palliated” Cardiovascular Malformations, and “Repaired” Malformations with lifelong sequelae • Single ventricle and complex two ventricle lesions • Channelopathies • Cardiomyopathies • Congenital Heart Disease with comorbidities • Congenital Heart Disease requiring specific treatments/events

8. Palliated and Repaired CHD, <12 Month Old, Single Ventricle • 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

9. All Forms of Single Ventricle • 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

10. Palliated and Repaired CHD, <12 Month Old, Complex Two Ventricles • Tetralogy of Fallot • With pulm. atresia, absent pulm. valve syndrome, discontinuous or hypoplasticpulm. 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

11. Palliated and Repaired CHD, <12 Month Old, Complex Two Ventricles • 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

12. Complex Two Ventricles, Functional Sequelae Common • 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

13. Complex Two Ventricles, Functional Sequelae Common • 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

14. Cardiovascular Genetics

15. Inherited Channelopathies • Long QT syndromes • Brugada syndrome variants • Atrial arrhythmia syndromes • Short QT syndrome • Catecholaminergic ventricular tachycardia

16. Inherited Channelopathies • 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

17. Inherited Channelopathies • 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)

19. Cardiomyopathies • 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

20. Childhood Myocardial Infarction • 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

21. Cardiomyopathies • 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

22. Cardiomyopathies - Transplantation • Pediatric Heart Transplantation – Medical Urgency Status Codes • Status 1A and 1B patients meet criteria for compassionate allowance prior to transplant

23. Cardiomyopathies - Transplantation • 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”

24. Extracorporeal Membrane Oxygenator (ECMO) - Bypass

25. Cardiomyopathies - Transplantation • 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).

26. Congenital Heart Disease with Co-Morbidities • 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)

27. Syndromes and Cardiovascular Anomalies

28. Congenital Heart Disease requiring Specific Treatments/Events • Length of stay in ICU > 2 weeks • Need for Cardiopulmonary resuscitation • Need for mechanical circulatory support (ECMO, VAD) • Need for tracheostomy • Need for continuous infusion of pulmonary vasodilators or inotropes • Prior fetal intervention

30. Thank you, Questions?