Related Experiment Video
Updated: May 29, 2026

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System
Published on: May 5, 2018
[Cardiomyopathy and inborn errors of metabolism in children. Study of 12 cases]
Anna Sabaté Rotés1, Mireia Del Toro Riera, Dimpna C Albert Brotons
1Servicio de Pediatría, Hospital Universitari Vall d'Hebron, Barcelona, España. annasabaterotes@gmail.com
Background And Objective:
Cardiomyopathy in childhood is a rare entity. Inborn errors of metabolism can cause myocardial involvement by several mechanisms.
Patients And Methods:
Patients under 16 years diagnosed with cardiomyopathy and EIM in a period of 11 years (1998-2009) were included.
Results:
A total of 12 patients were studied (8% of all cardiomyopathies), 9 boys and three girls, with a median age at diagnosis of 6 months (range: birth-8.8 years). Fifty percent had an onset with cardiac symptoms and heart failure was associated with an earlier diagnosis of the disease (P<.05). On ultrasound 10 patients had ventricular hypertrophy, which was associated with mitochondrial and lysosomal disease; only 2 patients had ventricular dilatation, which was associated with altered fatty acid metabolism (P<.05). The median survival was 5 months (range: 2-11 months). No variable was significantly associated with the likelihood of death.
Conclusions:
Patients with heart failure at onset are diagnosed earlier (before 3 months of life). Echocardiography helps in the diagnosis and monitoring of metabolic disease.
More Related Videos
03:45Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
11:26Analyzing Oxygen Consumption Rate in Primary Cultured Mouse Neonatal Cardiomyocytes Using an Extracellular Flux Analyzer
Published on: February 13, 2019
Related Concept Videos
Inborn Errors of Metabolism
Cardiomyopathy I: Introduction and Classification
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Protein Import into the Peroxisomes
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
Cardiomyopathy II: Dilated Cardiomyopathy
Cardiomyopathy IV: Restrictive Cardiomyopathy