Related Experiment Video
Updated: Oct 6, 2025
06:38
In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
Published on: March 7, 2025
667
Cardiovascular physiology and pathophysiology in Down syndrome
B T Cilhoroz1, C N Receno, K S Heffernan
1Department of Exercise Sciences, Syracuse University, Syracuse, New York, USA; Department of Biological Sciences, Le Moyne College, Syracuse, USA. deruislr@lemoyne.edu.
Physiological Research
|January 19, 2022
Summary
Down syndrome (Ds) involves intellectual disability due to chromosome 21 triplication. Exercise therapy may improve cardiovascular function and autonomic regulation in individuals with Ds, potentially preventing comorbidities.
Area of Science:
- Cardiovascular Physiology
- Neuroscience
- Genetics
Background:
- Down syndrome (Ds) is the most common genetic cause of intellectual disability.
- Individuals with Ds often present with cardiac defects, pulmonary arterial hypertension (PAH), and low blood pressure (BP).
- Autonomic dysfunction is frequently observed in Ds, impacting cardiovascular responses.
Purpose of the Study:
- To review the cardiovascular physiology and pathophysiology in individuals with Down syndrome.
- To explore the role of exercise therapy in managing cardiovascular and autonomic dysfunction in Ds.
- To highlight special considerations for exercise interventions in this population.
Main Methods:
- Literature review of studies on cardiovascular function in Down syndrome.
- Analysis of research on autonomic regulation and its impact on cardiovascular responses.
- Examination of evidence supporting exercise therapy for individuals with Ds.
Main Results:
- Individuals with Ds exhibit reduced BP at rest and during stress, linked to autonomic dysfunction.
- Lower cardiovascular responses in Ds are associated with decreased exercise capacity.
- Exercise therapy shows potential for normalizing autonomic function and improving cardiovascular health.
Conclusions:
- Cardiovascular and autonomic dysregulation are significant features of Down syndrome.
- Exercise therapy is a promising intervention to mitigate cardiovascular risks and improve quality of life in Ds.
- Further research is needed on tailored exercise programs for individuals with Down syndrome.
Related Concept Videos
01:29Pathophysiology of Cardiac Performance
847
Typical heart performance is influenced by heart rate, rhythm, myocardial contraction, and metabolism or blood flow. The cardiac muscle exhibits distinct electrophysiological features, including pacemaker activity and calcium channel control, which play a vital role in the heart's response to various drugs. The autonomic nervous system, comprising the sympathetic and parasympathetic branches, regulates heart rate. Sympathetic activation increases heart rate, while parasympathetic activation...
847
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
84
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...
84
01:29Heart Failure II: Pathophysiology
95
Systolic Heart Failure and Compensatory MechanismsSystolic heart failure (also termed HFrEF, Heart Failure with Reduced Ejection Fraction) is the most prevalent type of heart filure. It results in a decreased volume of blood being pumped from the ventricle. The aortic arch and carotid sinuses have baroreceptors that detect reduced blood pressure, triggering the sympathetic nervous system (SNS) to release epinephrine and norepinephrine. Initially, this response aims to boost heart rate and...
95
01:30Cardiomyopathy II: Dilated Cardiomyopathy
59
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,...
59
01:17Pathophysiology of Heart Failure
1.9K
Heart failure (HF) is a progressive syndrome involving ventricles that leads to inadequate cardiac output. It can be classified based on location and output or ejection fraction. Ejection fraction (EF) is an essential measurement in the diagnosis and surveillance of HF. Reduced EF corresponds to systolic heart failure (HFrEF). However, HF with preserved ejection fraction (HFpEF) is becoming increasingly prevalent. Also known as diastolic HF, this form of HF is related to aging. The...
1.9K
01:26Coronary Artery Disease II: Pathophysiology
76
Coronary Artery Disease (CAD) originates from a series of events that impair the function of coronary arteries, the blood vessels responsible for delivering oxygen-rich blood to the heart muscle. The pathophysiology of CAD is closely linked to atherosclerosis, a chronic inflammatory and lipid-driven condition affecting the vascular endothelium.1. Endothelial DamageThe process begins with damage to the vascular endothelium, which serves as a protective barrier between the blood and the vessel...
76