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Left Ventricular Systolic Dysfunction in Patients Diagnosed With Hypertrophic Cardiomyopathy During Childhood:
Sarah Abou Alaiwi1, Thomas M Roston1,2, Peter Marstrand3
1Department of Medicine, Brigham and Women's Hospital, Boston, MA (S.A.A., T.M.R., B.L.C., N.K.L., C.Y.H.).
Insights
Children diagnosed with hypertrophic cardiomyopathy (HCM) face a higher lifetime risk of developing left ventricular systolic dysfunction (LVSD) earlier than adults. Poor prognosis with LVSD necessitates vigilant monitoring, particularly during the transition to adult care.
Area of Science:
- Cardiology
- Pediatric Cardiology
- Genetics
Background:
- Left ventricular systolic dysfunction (LVSD) is a rare but serious complication of hypertrophic cardiomyopathy (HCM) in adults, associated with poor outcomes.
- Limited data exist on the prevalence, predictors, and prognosis of LVSD in pediatric patients diagnosed with HCM.
Purpose of the Study:
- To investigate the prevalence, predictors, and prognosis of LVSD in patients diagnosed with HCM during childhood.
- To compare the development and outcomes of LVSD in childhood-diagnosed HCM versus adult-diagnosed HCM.
Main Methods:
- Analysis of data from the international, multicenter SHaRe (Sarcomeric Human Cardiomyopathy Registry) registry.
- LVSD defined as left ventricular ejection fraction <50%. Prognosis assessed by a composite of death, cardiac transplantation, or left ventricular assist device implantation.
- Cox proportional hazards models used to assess predictors of incident LVSD and prognosis.
Main Results:
- 1010 pediatric HCM patients (median age at diagnosis 12.7 years) were studied. 5.5% had prevalent LVSD, and 9.1% developed incident LVSD over 5.5 years median follow-up.
- Overall LVSD prevalence was 14.7% in pediatric HCM versus 8.7% in adult HCM. Incident LVSD occurred earlier in the pediatric cohort (median age 32.6 years) compared to the adult cohort (median age 57.2 years).
- Predictors of LVSD in pediatric HCM included younger age at diagnosis, male sex, pathogenic sarcomere variant, prior septal reduction therapy, and lower initial ejection fraction. 40% of pediatric LVSD patients met the composite outcome, with worse prognosis in females and those with ejection fraction <35%.
Conclusions:
- Childhood-diagnosed HCM patients have a significantly higher lifetime risk of developing LVSD earlier than those diagnosed as adults.
- LVSD in HCM, regardless of age at diagnosis or onset, carries a poor prognosis.
- Close surveillance for LVSD is crucial in pediatric HCM patients, especially during their transition to adult care.
Background:
The development of left ventricular systolic dysfunction (LVSD) in hypertrophic cardiomyopathy (HCM) is rare but serious and associated with poor outcomes in adults. Little is known about the prevalence, predictors, and prognosis of LVSD in patients diagnosed with HCM as children.
Methods:
Data from patients with HCM in the international, multicenter SHaRe (Sarcomeric Human Cardiomyopathy Registry) were analyzed. LVSD was defined as left ventricular ejection fraction <50% on echocardiographic reports. Prognosis was assessed by a composite of death, cardiac transplantation, and left ventricular assist device implantation. Predictors of developing incident LVSD and subsequent prognosis with LVSD were assessed using Cox proportional hazards models.
Results:
We studied 1010 patients diagnosed with HCM during childhood (<18 years of age) and compared them with 6741 patients with HCM diagnosed as adults. In the pediatric HCM cohort, median age at HCM diagnosis was 12.7 years (interquartile range, 8.0-15.3), and 393 (36%) patients were female. At initial SHaRe site evaluation, 56 (5.5%) patients with childhood-diagnosed HCM had prevalent LVSD, and 92 (9.1%) developed incident LVSD during a median follow-up of 5.5 years. Overall LVSD prevalence was 14.7% compared with 8.7% in patients with adult-diagnosed HCM. Median age at incident LVSD was 32.6 years (interquartile range, 21.3-41.6) for the pediatric cohort and 57.2 years (interquartile range, 47.3-66.5) for the adult cohort. Predictors of developing incident LVSD in childhood-diagnosed HCM included age <12 years at HCM diagnosis (hazard ratio [HR], 1.72 [CI, 1.13-2.62), male sex (HR, 3.1 [CI, 1.88-5.2), carrying a pathogenic sarcomere variant (HR, 2.19 [CI, 1.08-4.4]), previous septal reduction therapy (HR, 2.34 [CI, 1.42-3.9]), and lower initial left ventricular ejection fraction (HR, 1.53 [CI, 1.38-1.69] per 5% decrease). Forty percent of patients with LVSD and HCM diagnosed during childhood met the composite outcome, with higher rates in female participants (HR, 2.60 [CI, 1.41-4.78]) and patients with a left ventricular ejection fraction <35% (HR, 3.76 [2.16-6.52]).
Conclusions:
Patients with childhood-diagnosed HCM have a significantly higher lifetime risk of developing LVSD, and LVSD emerges earlier than for patients with adult-diagnosed HCM. Regardless of age at diagnosis with HCM or LVSD, the prognosis with LVSD is poor, warranting careful surveillance for LVSD, especially as children with HCM transition to adult care.
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