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Restrictive cardiomyopathies in childhood. Etiologies and natural history
S W Denfield1, G Rosenthal, R J Gajarski
1Division of Pediatric Cardiology, Texas Children's Hospital, Houston, USA.
Insights
Childhood restrictive cardiomyopathy is rare, often idiopathic or linked to cardiac hypertrophy, with a poor prognosis. Early consideration for heart transplantation is crucial due to high mortality and embolic event risks.
Area of Science:
- Pediatric Cardiology
- Cardiovascular Research
- Rare Diseases
Background:
- Restrictive cardiomyopathy (RCM) is uncommon in children, with limited data on its causes and outcomes.
- Existing knowledge often relies on adult data, potentially misinforming pediatric management.
- This study addresses the knowledge gap regarding pediatric RCM.
Purpose of the Study:
- To retrospectively evaluate the causes and natural history of restrictive cardiomyopathy in childhood.
- To identify key clinical variables, therapeutic interventions, and patient outcomes.
- To inform clinical management and future research directions for pediatric RCM.
Main Methods:
- Retrospective review of 12 pediatric cases of restrictive cardiomyopathy diagnosed between 1967 and 1994.
- Inclusion criteria based on echocardiographic and cardiac catheterization findings.
- Data collected included demographics, etiology, hemodynamic measurements, treatment, and outcomes.
Main Results:
- Etiologies included hypertrophic cardiomyopathy, cardiac hypertrophy with restrictive physiology, idiopathic, familial, chronic eosinophilia, and post-inflammatory causes.
- A significant increase in pulmonary vascular resistance index was observed within 1-4 years post-diagnosis (p=0.04).
- High mortality (9/12) within 6.3 years and embolic events (33%) were noted despite medical therapies.
Conclusions:
- Childhood restrictive cardiomyopathy is frequently idiopathic or associated with cardiac hypertrophy, carrying a poor prognosis.
- Embolic events and elevated pulmonary vascular resistance are significant complications.
- Early consideration of heart transplantation is recommended for pediatric patients with RCM.
Abstract:
Restrictive cardiomyopathy is rare in childhood and little is known about the causes and outcome. This lack of information results in extrapolation of adult data to the care and management of children, who might require different treatment from that of adults. This study was undertaken retrospectively to evaluate the causes and natural history of restrictive cardiomyopathy in childhood. Twelve cases of restrictive cardiomyopathy were identified by database review of patient records from 1967 to 1994. The cases were selected on the basis of echocardiographic and cardiac catheterization criteria. Charts were reviewed for the following variables: age, sex, cause, right-and left-sided hemodynamics, pulmonary vascular resistance index, shortening fraction, therapy, and outcome. There were 6 males and 6 females with a mean age of 4.6 years at presentation (median, 3.4 yr; range, 0.9 to 12.3 yr). Etiologies included hypertrophic cardiomyopathy in 3 patients, cardiac hypertrophy with restrictive physiology in 3, idiopathic in 2, familial in 2 (twins), "chronic eosinophilia" in 1, and "post inflammatory" with no definitive causes in 1. At presentation the mean shortening fraction was 33% +/- 2% (mean +/- SEM), average right ventricular pressures were 44/13 +/- 3/1, average left ventricular pressures were 88/25 +/- 4/3, and the mean pulmonary vascular resistance index was 3.4 +/- 1.3 U.m2 (n = 9), but increased to 9.9 +/- 3.1 U.m2 (n = 5, p = 0.04) by 1 to 4 years after diagnosis. Four of the 12 patients had embolic events (1, recurrent pulmonary emboli; 1, saddle femoral embolus; 2, cerebrovascular accidents) and 9 of 12 died within 6.3 years despite medical therapies, which included diuretics, verapamil, propranolol, digoxin, and captopril. In conclusion, restrictive cardiomyopathy in childhood is commonly idiopathic or associated with cardiac hypertrophy, and the prognosis is poor. Embolic events occurred in 33% of our patients, and 9 of 12 patients died within 6.3 years. Within 1 to 4 years of diagnosis, patients may develop a markedly elevated pulmonary vascular resistance index; therefore, transplantation should be considered early.