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Myocardial perfusion defects in Bartter and Gitelman syndromes
R Scognamiglio1, L A Calò, C Negut
1Policlinico Abano Terme, Metabolic Cardiology, University Hospital, University of Padova, Padova, Italy.
European Journal of Clinical Investigation
|November 22, 2008
Summary
Genetic kidney diseases Bartter and Gitelman syndromes (BS/GS) may cause cardiac issues. Isometric exercise revealed exercise-induced coronary microvascular and myocardial defects in BS/GS patients, challenging their benign classification.
Area of Science:
- Cardiology
- Nephrology
- Genetics
Background:
- Normotensive hypokalaemic tubulopathies, including Bartter and Gitelman syndromes (BS/GS), are genetic disorders.
- While often considered benign, BS/GS patients have reported cardiac complications like QT prolongation and ventricular dysfunction, potentially leading to sudden cardiac death.
Purpose of the Study:
- To investigate if isometric exercise can identify BS/GS patients at risk for cardiac events.
- To assess myocardial function and perfusion during isometric exercise in BS/GS patients compared to healthy controls.
Main Methods:
- Myocardial function (MF) and myocardial blood flow (MBF) were assessed at rest and during isometric exercise in 10 BS/GS patients and 10 controls.
- Quantitative two-dimensional and myocardial contrast echocardiography were utilized for MF and MBF evaluation.
Main Results:
- BS/GS patients exhibited normal baseline MF and MBF, but prolonged QTc intervals during exercise.
- In contrast to controls, BS/GS patients showed a decline in left ventricular ejection fraction and myocardial perfusion during exercise.
- Exercise induced coronary microvascular and myocardial defects in BS/GS patients.
Conclusions:
- The study demonstrates exercise-induced cardiac defects in BS/GS patients, questioning the notion that these syndromes are benign.
- An in-depth cardiac assessment, including exercise testing, is recommended for BS/GS patients to identify those at higher risk for cardiac events.
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