Related Experiment Video

Updated: Nov 1, 2025

Intracoronary Acetylcholine Provocation Testing for Assessment of Coronary Vasomotor Disorders
06:39

Intracoronary Acetylcholine Provocation Testing for Assessment of Coronary Vasomotor Disorders

Published on: August 18, 2016

16.2K

Cardiac manifestation is evident in chorea-acanthocytosis but different from McLeod syndrome

Silvio Quick1, Felix Matthias Heidrich2, Max-Valentin Winkler2

  • 1Department of Cardiology, Angiology and Intensive Care, Klinikum Chemnitz gGmbH, Medizincampus Chemnitz der Technischen Universität Dresden, Dresden, Germany.

Parkinsonism & Related Disorders
|June 21, 2021
PubMed

Insights

Cardiac involvement is revealed in chorea-acanthocytosis (ChAc) and McLeod syndrome (MLS). MLS shows a higher risk of heart failure and arrhythmias compared to ChAc, necessitating specific cardiac assessments for both neuroacanthocytosis conditions.

Area of Science:

  • Neurology
  • Cardiology
  • Genetics

Background:

  • Neuroacanthocytosis (NA) encompasses Chorea-Acanthocytosis (ChAc) and McLeod Syndrome (MLS).
  • Cardiac involvement was previously considered a hallmark primarily of MLS.
  • Limited data exists on cardiac manifestations in ChAc.

Purpose of the Study:

  • To investigate and compare cardiac manifestations in ChAc and MLS.
  • To identify differences in cardiac involvement between these two NA syndromes.
  • To establish disease-specific recommendations for cardiac assessment in ChAc and MLS.

Main Methods:

  • Studied six ChAc patients and six MLS patients.
  • Cardiac evaluation included echocardiography, cardiac MRI, 24-h ECG, and cardiac biomarkers.
  • Assessed left ventricular function, arrhythmias, and troponin levels.

Main Results:

  • Four of six ChAc patients showed cardiac involvement, including reduced LVEF and LV dilatation.
  • Four of five MLS patients exhibited LV dilatation, reduced LVEF, and ventricular tachycardia.
  • Elevated high-sensitive troponin T was observed in most patients; troponin I was elevated in a subset.

Conclusions:

  • Cardiac involvement is present in ChAc, with a seemingly lower risk of heart failure than in MLS.
  • MLS demonstrates a malignant cardiac profile with significant arrhythmias and heart failure progression.
  • Disease-specific cardiac assessment protocols are recommended for ChAc and MLS patients.
Abstract

Keywords:
Cardiac MRICardiomyopathyChorea-acanthocytosisMcLeod syndrome

More Related Videos

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.6K
Isolation and Characterization of Cardiac Mesenchymal Stromal Cells from Endomyocardial Bioptic Samples of Arrhythmogenic Cardiomyopathy Patients09:16

Isolation and Characterization of Cardiac Mesenchymal Stromal Cells from Endomyocardial Bioptic Samples of Arrhythmogenic Cardiomyopathy Patients

Published on: February 28, 2018

7.8K

Related Concept Videos

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,...
107
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...
107
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.
1.4K
Acute Coronary Syndrome II: Pathophysiology and Clinical Manifestations01:19

Acute Coronary Syndrome II: Pathophysiology and Clinical Manifestations

The pathophysiology of Acute Coronary Syndrome [ACD] involves several key processes:The main underlying cause of ACD is atherosclerosis, a chronic inflammatory disease characterized by the buildup of lipid-laden plaques within the coronary arteries.As the atherosclerotic plaque grows in the coronary artery, it may become unstable due to the formation of a lipid-rich core and a thin fibrous cap. Inflammatory cells within the plaque, such as macrophages, secrete enzymes that degrade the...
102
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...
167
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...
102