Geoffrey L. Rosenthal, MD, PhDNovember 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 death  Childhood myocardial infarction  Heart transplantation

 “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

 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 %)  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 syndromes  Brugada syndrome variants  Atrial arrhythmia syndromes  Short QT syndrome  Catecholaminergic 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 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

Thank you, Questions?