Children's Cardiomyopathy Foundation



CCF Founder's Loss Inspires Research Study that Identifies Risk Factors
of Death and Heart Transplant in Children with Cardiomyopathy

The Children's Cardiomyopathy Foundation (CCF), National Heart, Lung, and Blood Institute (NHLBI), and U.S. and Canadian medical centers have collaborated on a national study with findings that can save the lives of infants and children diagnosed with hypertrophic cardiomyopathy (HCM). This study represents more than a decade-long search for answers for CCF's Founding Executive Director, Lisa Yue, after losing her two young sons to HCM.

The Lancet, a leading peer-reviewed medical journal, published the results of this North American study in September. The paper, "Risk Stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry," outlines risk factors that cardiologists can use to determine which HCM-diagnosed children are at greatest risk of death and who should be evaluated for earlier heart transplant.

Lisa and Eddie with their son, Bryan."Had this study existed 12 years ago when my sons Bryan and Kevin were diagnosed, their treatment probably would have been different, and they would still be here with me today," states Ms. Yue, who founded CCF to generate more awareness of pediatric cardiomyopathy. "This published study is a milestone for CCF and will significantly improve outcomes for children with HCM."

For physicians, predicting the outcome of children with HCM is challenging because of the disease's variable presentation. By analyzing the cases of more than 1,000 children with HCM from 98 centers enrolled in the North American Pediatric Cardiomyopathy Registry (PCMR), Dr. Lipshultz, the PCMR principal investigator, and researchers from other centers were able to break down the disease into patient subgroups by clinical characteristics and identify risk factors that predict the likelihood of death or heart transplant. Specifically, the study found the worst prognosis for children in the following subgroups: HCM diagnosed at less than 1 year of age or those with metabolic disorders, malformation syndromes or a mixed form of HCM in combination with dilated or restrictive cardiomyopathy. The risk of death or heart transplant markedly increased when two or more risk factors — such as decreased weight, congestive heart failure and abnormal echocardiograms — were present. The study suggests that these higher risk patients should be followed closely and be evaluated for early heart transplantation.

The study's research team believes that these findings will have an immediate impact on patient care. "Before this study, nobody knew which factors were more or less important in predicting dismal outcomes," says Dr. Lipshultz. "Based on our experience with adults, we do not think of HCM as a cause for heart transplant. Yet for a select group of high-risk children with HCM, transplant is key for survival."

Lisa and Eddie with their four, heart-healthy children: Audrey, Lauren, Brandon, and Michelle.

Dr. Lipshultz confirms that many of the characteristics Ms. Yue's sons, Bryan and Kevin, had were risks for failing medical management and needing a heart transplant. "Had their cardiologists had access to this study, they probably would have taken a different course of action," says Dr. Lipshultz. "Our goal is to prevent other children like Bryan or Kevin from dying."

Ms. Yue adds, "I am glad CCF partnered with the NHLBI and PCMR to support this multi-center study. I look forward to hearing about the successful outcomes of children who will benefit from this new medical knowledge."

The study was supported by the Children's Cardiomyopathy Foundation and the National Heart, Lung, and Blood Institute grant HL53392.

This story was covered by several media outlets, including ABC News, The Miami Herald and Fox News Network.

To review the latest presentations and publications from other CCF-funded research studies, click here.