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P ediatric C ardio m yopathy R egistry

P ediatric C ardio m yopathy R egistry. Etiology-specific Outcome in Pediatric Hypertrophic Cardiomyopathy. Steven D. Colan, M.D. Children’s Hospital Boston. Gerry Cox, MD Steven Lipshultz, MD April Lowe, MS. Paul Lurie, MD Lynn Sleeper, ScD Jeffrey Towbin, MD. Co-Authors.

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P ediatric C ardio m yopathy R egistry

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  1. Pediatric Cardiomyopathy Registry Etiology-specific Outcome in Pediatric Hypertrophic Cardiomyopathy Steven D. Colan, M.D. Children’s Hospital Boston

  2. Gerry Cox, MD Steven Lipshultz, MD April Lowe, MS Paul Lurie, MD Lynn Sleeper, ScD Jeffrey Towbin, MD Co-Authors

  3. Conflict of Interest

  4. Hypertrophic Cardiomyopathy Defined as ventricular hypertrophy without an identifiable hemodynamic cause Exists in “pure” and “mixed” forms, the latter having additional features such as ventricular dysfunction or noncompaction Etiology includes familial, metabolic disorders, neuromuscular disorders, malformation syndromes, and idiopathic

  5. Hypertrophic Cardiomyopathy in Children Available data are primarily derived from small, retrospective, single center studies Etiologically diverse but etiologic-specific incidence and outcomes are not known The Pediatric Cardiomyopathy Registry (PCMR) is a NIH-funded registry established in 1996 to assess the incidence and outcome of CM in children

  6. PCMR Methods Patients 0 to <18 years at time of diagnosis Retrospectively-enrolled cohort:1990-1995 Prospectively-enrolled cohort: 1996-present Comprehensive regional (New England and Central Southwest) data collection in prospective cohort for incidence data Longitudinal data collection in both groups for “natural” history and outcome data

  7. PCMR Longitudinal Data Collection Demographics Personal and family history Symptoms and therapy Laboratory data (ECG, ECHO, CATH, serum and tissue analysis, autopsy) Outcome

  8. Etiology-Specific Subgroups Inborn errors of metabolism (such as glycogen storage disease) Neuromuscular diseases (such as Friedreich ataxia) Malformation syndromes (such as Noonan syndrome) Sarcomeric HCM (genetically characterized sarcomeric defects)

  9. Other Subgroup Definitions 61% of cases are idiopathic Diverse etiology under age 1, > age 1 most idiopathic cases have sarcomeric HCM We defined presumed sarcomeric HCM (pSHCM) as patients with genetically proven SHCM, <1 yr with family history of HCM, or ≥1 yr with idiopathic HCM

  10. PCMR: HCM Results Total = 961 patients diagnosed with HCM at age <18 years “Pure” HCM = 855 children “Mixed” HCM = 106 children This report focuses on the incidence and outcome data in the “Pure” HCM subgroup

  11. Results: Etiology Subgroup N ( %) Inborn errors of metabolism 74 ( 9%) Malformation syndromes 77 ( 9%) Neuromuscular disorders 64 ( 7%) Presumed sarcomeric HCM 557 (65%) — genetically proven (n=115) — family history HCM <1 yr (n = 6) — idiopathic ≥1 yr (n = 436) Idiopathic Infantile HCM (<1 yr) 83 (10%)

  12. 100 90 80 70 60 Survival (%) 50 40 30 Inborn Error of Metabolism (n=74) 20 Malformation Syndromes (n=77) Log rank p<0.001 Neuromuscular Disorders (n=64) 10 Presumed Sarcomeric HCM (n=557) Idiopathic Infantile HCM (n=83) 0 0 4 8 12 16 20 24 28 Age (years) Survival by Etiologic Subgroup

  13. 100 90 80 70 60 Survival (%) 50 40 30 <1 year (n=328) 20 1 to <6 years (n=114) 6 to <12 years (n=169) 10 12 to <18 years (n=244) 0 0 2 4 6 8 10 12 14 Time Since Diagnosis (years) Survival from Diagnosis by Age for All-cause HCM Log rank p<0.001

  14. 100 90 80 70 60 Percentage 50 40 30 20 10 0 0 2 4 6 8 10 12 14 16 18 20 22 24 Age at Death (years) Age at Death for All HCM

  15. 100 <1 yr (n=144) 1 to <6 yrs (n=78) 90 6 to <12 yrs (n=120) 80 12 to <18 yrs (n=215) 70 60 Survival (%) 50 40 30 20 10 0 0 2 4 6 8 10 12 14 16 Time Since Dx (years) Survival from Diagnosis in pSHCM Grouped by Age at Diagnosis

  16. Age at Death for pSHCM 100 90 80 70 60 Percentage 50 40 30 20 10 0 0 2 4 6 8 10 12 14 16 18 20 22 24 Age at Death (years)

  17. pSHCM: Predictors of Death 557 patients,18 (3%) deaths Annual mortality = 1% Risk factor analysis (age; race; sex; family history of CM or sudden death; CHF; LV size, function; LV mass, septal thickness, wall thickness) = None significant Limited Power due to few deaths

  18. HCM Diagnosed at Age <1 328 patients total; 1, 2, and 5 year survival post-CM diagnosis = 76%, 73%, and 71% 48 (15%) Metabolic disorders 50 (15%) Malformation syndromes 3 ( 1%) Neuromuscular disorders 144 (44%) presumed Sarcomeric HCM 83 (25%) Idiopathic Infantile HCM

  19. Idiopathic Infantile HCM 83 patients, 1 year survival post-CM diagnosis of 30% Lack of an etiologic diagnosis and high incidence of death in this group seriously impedes our ability to calculate accurate etiologic-specific survival rates Patients who survive beyond age 1 but remain idiopathic have 2 and 5 year survivals of 97% and 95%

  20. Conclusions Infants without an etiologic disorder have the worst outcome Metabolic disorders and malformation syndromes have a worse outcome than neuromuscular disorders or pSHCM Annual mortality in pSHCM is 1%, similar to the experience in adults with HCM

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