Related Experiment Video

Updated: May 3, 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

11.1K

Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children

Zhao Yang1, Colin J McMahon, Liana R Smith

  • 1Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA.

Circulation
|September 8, 2005
PubMed

Insights

Lysosome-associated protein-2 (LAMP-2) gene mutations are found in 4% of pediatric hypertrophic cardiomyopathy (HCM) patients, indicating Danon disease is often overlooked in children with HCM, skeletal myopathy, or Wolff-Parkinson-White syndrome.

Area of Science:

  • Genetics
  • Cardiology
  • Rare Diseases

Background:

  • Hypertrophic cardiomyopathy (HCM) and left ventricular hypertrophy can co-occur with skeletal myopathy and Wolff-Parkinson-White (WPW) syndrome.
  • Mutations in the lysosome-associated protein-2 (LAMP-2) gene are linked to these combined conditions, suggesting Danon disease.
  • This study aimed to determine the prevalence of LAMP2 mutations in pediatric HCM patients.

Observation:

  • Genomic DNA from 50 pediatric HCM patients was analyzed for LAMP2 mutations.
  • Nonsense mutations in LAMP2 were identified in 4% (2 out of 50) of the probands.
  • Affected families displayed varied phenotypes, including progression from HCM to dilated cardiomyopathy (DCM), skeletal myopathy, and WPW syndrome.

Findings:

  • LAMP2 mutations were detected in 4% of the unselected pediatric HCM cohort.
  • Immunohistochemical staining confirmed the absence of LAMP-2 in skeletal and cardiac muscle tissues of affected individuals.
  • Phenotypic variability was observed, with carriers exhibiting different clinical presentations.

Implications:

  • LAMP2 mutations represent a notable cause of HCM in children, particularly when accompanied by skeletal myopathy or WPW syndrome.
  • Danon disease may be underdiagnosed within the pediatric cardiology community.
  • Genetic screening for LAMP2 mutations is recommended for pediatric HCM patients with associated symptoms.
Abstract

More Related Videos

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus06:15

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus

Published on: March 6, 2019

53.3K
A Doxorubicin-Induced Murine Model of Dilated Cardiomyopathy In Vivo05:14

A Doxorubicin-Induced Murine Model of Dilated Cardiomyopathy In Vivo

Published on: May 16, 2020

4.4K

Related Concept Videos

Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
1.0K
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...
826
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
790
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
805
Aneurysm I: Introduction01:30

Aneurysm I: Introduction

An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
650
Diphtheria01:28

Diphtheria

Diphtheria is an acute, toxin-mediated infectious disease that primarily affects the upper respiratory tract. It is caused by Corynebacterium diphtheriae, a Gram-positive, pleomorphic rod that lacks spore-forming capability and exhibits a characteristic club-shaped morphology under microscopic examination. While C. diphtheriae can asymptomatically colonize mucosal surfaces, clinical disease manifests only when the bacterial strain is lysogenized by a specific β-corynephage. This phage...
175