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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
PubMed

Insights

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.
Abstract

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