The Pediatric Cardiomyopathy Registry and Heart Failure: Key Results from the First 15 Years
Section snippets
The design and operation of the PCMR
The design and implementation of the PCMR are detailed elsewhere.5 In brief, children up to 18 years old diagnosed with cardiomyopathy at participating centers are eligible for inclusion if they meet specific quantitative echocardiographic criteria, if the pattern of cardiomyopathy conforms to a defined semi-quantitative pattern, or if the diagnosis is confirmed by tissue analysis (Box 1). Each case of cardiomyopathy is then classified morphologically as dilated, hypertrophic, restrictive,
The incidence of pediatric cardiomyopathy
Between 1996 and 1999, 467 children with a new diagnosis of cardiomyopathy meeting PCMR criteria were identified in the 2 geographic regions described above. Completeness of case capture by the 18 pediatric cardiology centers in New England and the 20 centers in the central southwest was assessed in multiple ways. We estimate that fewer than 5 cases per year were missed.8 The estimated annual incidence of pediatric cardiomyopathy in the United States based on these 2 regions is 1.13 cases per
Causes of pediatric cardiomyopathy
Examinations of more than 1400 children with dilated cardiomyopathy and more than 800 children with hypertrophic cardiomyopathy revealed that, for the most common types of cardiomyopathy, most cases lack a known cause.1, 11 In the more than 1400 children with a newly diagnosed pure form of dilated cardiomyopathy, only 34% had a known cause: 16% of children with myocarditis, 9% with a neuromuscular disorder, 5% with familial cardiomyopathy, 4% with inborn errors of metabolism, and 1% with
Treatment of pediatric cardiomyopathy
Treatment at diagnosis for 350 children with idiopathic dilated cardiomyopathy diagnosed between 1990 and 1995 in the retrospective cohort was compared with that of similar children diagnosed between 2000 and 2006 in the prospective cohort.13 Of the children from the retrospective cohort, 43% were less than 1 year old and 73% had heart failure at diagnosis. Within 1 month of diagnosis, 84% of those in the retrospective cohort were started on anti–heart-failure therapy (digoxin, a diuretic, or
Outcomes of pediatric cardiomyopathy
Analyses of the PCMR database have identified cause-specific outcomes and predictors of outcome for children with cardiomyopathy. The clinical outcomes examined were death and cardiac death (either death or heart transplantation).
Of the more than 1400 cases of pure dilated cardiomyopathy, the 1- and 5-year rates of death or heart transplantation were 31% and 46%, respectively. These rates varied greatly by the cause of disease (Fig. 2).1 Children aged 6 years or older were more likely to die or
Current study period aims and progress
The PCMR has continued to select and investigate research aims reflecting the most pressing clinical questions as shown by the 3 major aims of the most recent funding cycle (Box 3). Aim 1, which was to merge the PCMR and Pediatric Heart Transplant Study Group (PHTS) databases, is now complete. This merger will be updated again in the final year of the current funding cycle. An analysis of the merged PCMR-PHTS database showed that marked left ventricular dilation, non-white race, and Medicaid or
International conference on pediatric cardiomyopathy
In January 2007, PCMR investigators organized the first International Workshop on Idiopathic and Primary Pediatric Cardiomyopathies. Cosponsored by the Children's Cardiomyopathy Foundation and NHLBI, more than 50 researchers, young investigators, and NHLBI staff attended the 2-day conference. The results of the conference were published in 3 issues of the journal, Progress in Pediatric Cardiology.28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52,
PCMR: future directions
By continuously collecting follow-up data from children enrolled in the PCMR, the description of the clinical course of pediatric cardiomyopathy will be made more complete. These data will also allow for risk factors to be examined in more detail, and their long-term utility in diagnosis, prognosis and care to be determined. This type of registry data and their usefulness in guiding clinical decision making is increasingly appreciated by research methodologists and is being made more useful
Summary
Currently in its 15th year of funding by the NHLBI, the PCMR contains clinically important information on more than 3500 cases of pediatric cardiomyopathy. Important contributions to date include refined estimates of the incidence and outcomes of pediatric cardiomyopathy, the identification of risk factors and predictors of outcomes for children with several cause-specific forms of cardiomyopathy, the identification of the factors associated with making a causal diagnosis of pediatric
Acknowledgments
The work of the PCMR would not be possible without the collaboration of many physicians and other health professionals, scientists, and research staff from the United States and Canada. Special acknowledgment should be given to our current and former PCMR Study group: Jane Messere, RN; Stephanie Ware, MD, PhD; John Lynn Jefferies, MD, MPH; Linda Addonizio, MD; Beth Kaufman, MD; Melanie Everitt, MD; Elfriede Pahl, MD; Paul Kantor, MBBCh; Paulo Rusconi, MD; Robert E. Shaddy, MD; and Paul R.
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2021, Progress in Pediatric CardiologyCitation Excerpt :Finally, two- to five-year survival varies between 13% to 22% across all cardiomyopathies [5,6,8,10–12]. Pediatric cardiomyopathies are caused by diverse mechanisms including genetic variants, infection, neuromuscular disease, inherited metabolic disorders, and mitochondrial disease [4,6,13]. Cardiomyopathies can occur in the context of a syndrome with non-cardiac manifestations of disease, so-called syndromic cardiomyopathies.
Funding support: This work was supported by the National Heart Lung and Blood Institute (HL53392) and the Children's Cardiomyopathy Foundation.