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Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B.

Howard J LiCatherine GrodenMelanie P HoenigEvan C RayCarlos R FerreiraWillam GahlDanica Novacic
Published in: BMC nephrology (2019)
Extensive coronary and vascular calcifications may be an extension of the 17q12 deletion phenotype, particularly if hypomagnesemia and hyperparathyroidism are prevalent. In patients with 17q12 deletions involving HNF1B, hyperparathyroidism and hypomagnesemia may contribute to significant cardiovascular risk.
Keyphrases
  • case report
  • coronary artery disease
  • coronary artery
  • nuclear factor
  • aortic stenosis
  • climate change
  • toll like receptor
  • atrial fibrillation
  • ejection fraction
  • transcatheter aortic valve replacement