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Dr. effat hussien mostafa mahamoud asr :: Publications:

Title:
Down syndrome patients with normal hearts: are they really normal?
Authors: Eman G Abdelrahman, MDa, Naglaa M Kamal, MDb,* , Sultan Alharthi, MDc, Muflih Albalawi, MDd, Effat Assar, MDa
Year: 2023
Keywords: Not Available
Journal: Not Available
Volume: Not Available
Issue: Not Available
Pages: Not Available
Publisher: Not Available
Local/International: International
Paper Link: Not Available
Full paper effat hussien mostafa mahamoud asr_6-Down_syndrome_patients_with_normal_hearts__are.66 (1).pdf
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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. Abbreviations: BMI = body mass index, BP = blood pressure, CXR = chest X-ray, Da = annular tissue doppler velocity during late diastole, DCC = deceleration time of early filling, De = annular tissue doppler velocity during early diastole, DS = down Syndrome, E/A = early/late diastolic peak velocity ratio, ECG = electrocardiogram, EF = ejection fraction, FS = fraction shortening, HR = heart rate, ICT = isovolumetric contraction time, LV = left ventricle, PA = pulmonary artery, RR = respiratory rate, RV = right ventricle, Sa = annular tissue doppler velocity during systole, TAPSE = tricuspid annular plane systolic excursion, TDI = tissue Doppler imaging.

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