Related Experiment Video
Updated: Aug 9, 2025
Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
Published on: March 10, 2020
Down syndrome patients with normal hearts: are they really normal?
Eman G Abdelrahman1, Naglaa M Kamal2, Sultan Alharthi3
1Pediatric department, Faculty of Medicine, Benha University, Benha, Egypt.
Insights
Children with Down syndrome (DS) often have subtle heart problems even without anatomical defects. Tissue Doppler imaging (TDI) is superior for detecting this cardiac dysfunction in DS patients.
Area of Science:
- Cardiology
- Pediatrics
- Genetics
Background:
- Congenital heart disease is common in Down syndrome (DS).
- However, DS patients without anatomical defects may still have cardiac dysfunction.
- Subtle cardiac function derangements are present in DS patients despite normal anatomy.
Purpose of the Study:
- To assess cardiac functions in pediatric DS patients with anatomically normal hearts using echocardiography and tissue Doppler imaging (TDI).
- To compare cardiac function between DS patients and healthy controls.
- To evaluate the sensitivity of TDI in detecting subtle cardiac dysfunction.
Main Methods:
- 172 karyotyping-confirmed DS patients with normal heart anatomy and 165 healthy controls were enrolled.
- Cardiac function was assessed using 2-dimensional echocardiography and TDI.
- TDI was used to evaluate systolic and diastolic functions of both ventricles.
Main Results:
- DS patients showed reduced right ventricular systolic and diastolic functions.
- TDI detected decreased tricuspid annular plane systolic excursion and prolonged deceleration time.
- TDI revealed subtle left ventricular diastolic dysfunction, including decreased E/e' ratio and prolonged isovolumetric relaxation time.
Conclusions:
- DS patients with anatomically normal hearts require cardiac function assessment.
- TDI is more sensitive than conventional echocardiography in detecting subtle cardiac dysfunction, particularly diastolic dysfunction.
- TDI is crucial for identifying biventricular dysfunction in DS children.
Abstract:
Even though congenital heart disease is a common finding in down syndrome (DS) patients, some of them have anatomically normal hearts. However, the term "normal" might not be suitable, as these patients usually suffer from functional cardiac dysfunction. Several research highlighted that despite the absence of anatomical heart defects, subtle cardiac function derangements are present in DS patients. We aim to assess cardiac functions by Two-dimensional echocardiography and tissue Doppler imaging (TDI) in pediatric DS patients who have anatomically normal hearts. One hundred seventy-two patients with karyotyping confirmed DS with anatomically normal hearts and 165 healthy normal control children were enrolled in the current study. Their cardiac functions were assessed using both 2-dimensional echocardiography and TDI. Both patients and controls had structurally and anatomically normal hearts. In DS patients, the right side of the heart showed a significant reduction in both systolic and diastolic functions. Systolic dysfunction was evident by significantly decreased levels of Tricuspid annular plane systolic excursion and systolic wave by TDI. Diastolic dysfunction of the right ventricle was evident by prolonged deceleration time by conventional echocardiography and a significant decrease in annular tissue doppler velocity during early diastole/late diastole ratio by TDI. The E/De ratio was significantly increased. Even with anatomically normal hearts, DS patients should undergo cardiac function assessment by echocardiography & TDI. TDI is superior to conventional echocardiography in detecting subtle cardiac dysfunction especially left ventricular diastolic dysfunction in DS patients. TDI showed a significant decrease in the early/atrial ratio of mitral valve annulus and prolongation of left ventricle isometric relaxation time in DS children. Also, the left ventricle E/De ratio was prolonged denoting elevated filling pressures and diastolic dysfunction. This indicates that the TDI has higher sensitivity to detect diastolic dysfunction than conventional Echocardiography. Biventricular TDI-derived myocardial performance index was found to be significantly increased in DS children.
Related Concept Videos
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
01:17Karyotyping
01:20Imaging Studies for Cardiovascular System III: X-Ray
Definition and Purpose
An X-ray, or radiograph, is a non-invasive method that uses ionizing radiation to take images of internal structures. It is mainly used in cardiac imaging to examine the heart, lungs, and major blood vessels, aiming to identify abnormalities in the heart's size, shape, and position, such as heart failure, congenital defects, and vascular...
01:30Cardiomyopathy II: Dilated Cardiomyopathy
01:23Mitral Stenosis II: Clinical features and Diagnostic Tests