Related Experiment Video

Updated: Jul 14, 2026

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System
07:34

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System

Published on: May 5, 2018

Cardiac manifestations of inborn errors of metabolism

A Evangeliou1, K Papadopoulou-Legbelou, E Daphnis

  • 1Department of Pediatrics and Internal Medicine, University Hospital, Crete, Greece. evangeli@med.uoc.gr

Minerva Pediatrica
|May 24, 2007
PubMed

Insights

Cardiac manifestations are frequently observed in patients with inborn errors of metabolism (IEMs). Early recognition of these heart conditions is crucial for diagnosing IEMs, especially when neurological symptoms are mild.

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • Inborn errors of metabolism (IEMs) are a group of genetic disorders that can affect multiple organ systems.
  • Cardiac manifestations are not always recognized as a key diagnostic indicator for IEMs.

Purpose of the Study:

  • To determine the frequency and types of cardiac manifestations in patients with potential IEMs.
  • To evaluate the role of cardiac symptoms in the diagnosis of IEMs in clinical practice.

Main Methods:

  • A cohort of 287 patients with potential IEMs was analyzed.
  • Cardiac assessments were performed, identifying conditions such as cardiomyopathy, cardiomegaly, and conduction disorders.

Main Results:

  • 41 patients exhibited cardiac manifestations.
  • A diagnosis of IEM was confirmed in 15 of these 41 patients.
  • In 6 patients, cardiovascular symptoms were the primary presentation, with 7 adults having childhood-onset symptoms.

Conclusions:

  • Cardiac findings are an underappreciated aspect of IEM diagnosis.
  • Collaboration between various medical specialists is essential for managing patients with unexplained cardiac symptoms and potential IEMs.
  • Several IEMs are associated with cardiac abnormalities, underscoring the need for cardiac screening.
Abstract

More Related Videos

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle09:40

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Published on: January 19, 2017

Intra-cardiac Side-Firing Light Catheter for Monitoring Cellular Metabolism using Transmural Absorbance Spectroscopy of Perfused Mammalian Hearts08:51

Intra-cardiac Side-Firing Light Catheter for Monitoring Cellular Metabolism using Transmural Absorbance Spectroscopy of Perfused Mammalian Hearts

Published on: May 12, 2019

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Mechanism of Cardiac Arrhythmias01:28

Mechanism of Cardiac Arrhythmias

Arrhythmias are irregular heart rhythms occurring when the heart's electrical impulses become abnormal. These disturbances can lead to various symptoms, depending on their severity and the underlying cause. Some common factors contributing to arrhythmias include hypoxia, ischemia, electrolyte imbalances, excessive catecholamine exposure, drug toxicity, and muscle overstretching. Arrhythmias can be classified into two main types based on the rate and site of origin of abnormal heart rhythms.
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
Coronary Artery Disease III: Clinical Manifestations01:30

Coronary Artery Disease III: Clinical Manifestations

Coronary Artery Disease (CAD) is a primary health risk worldwide, leading to significant morbidity and mortality. The condition arises from the buildup of atherosclerotic plaques within the coronary arteries, resulting in diminished blood supply to the heart muscle.The clinical manifestations of CAD vary widely, from asymptomatic stages to severe, life-threatening conditions. Understanding these manifestations is crucial for early diagnosis and effective management.Angina Pectoris: The Warning...
Overview of Carbohydrate Metabolism01:19

Overview of Carbohydrate Metabolism

Carbohydrate metabolism is a fundamental biochemical process that ensures a constant supply of energy to living cells. The most important carbohydrate is glucose, which can be broken down via glycolysis to enter into the Krebs cycle and eventually lead to the production of ATP through oxidative phosphorylation.
Glucose transport into cells is facilitated by a family of transport proteins called GLUT (Glucose Transporters). GLUT4 is the primary glucose transporter for insulin-stimulated glucose...
Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
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...