Normal left ventricular performance in children with x‐linked hypophosphatemic rickets: A doppler echocardiography study

Iris Vered, Michael P. Whyte, Zvi Vered, Julio E. Perez, Allan S. Jaffe

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


To determine if chronic hypophosphatemia causes myocardial dysfunction, we explored one model for this metabolic derangement by prospectively investigating 11 patients (aged 5‐18 years) with X‐linked hypophosphatemic rickets (XLH) by M‐mode, two‐dimensional, and Doppler echocardiography. Inorganic phosphate and calcitriol (1,25‐dihydroxyvitamin D3) treatment was withheld 72 h prior to study. None of the patients had cardiovascular symptoms. Fasting serum inorganic phosphate concentrations were subnormal in all: 2.6 + 0.5 mg/dl (SD). Serum total and ionized calcium, magnesium, sodium, potassium, and creatine kinase myocardial fraction (CK‐MB) levels were unremarkable. Electrocardiograms revealed early repolarization abnormalities in 3 of the 11 patients: 1 had significant QT prolongation (corrected for heart rate), and 2 had T wave abnormalities. Exaggerated U waves occurred in 4 subjects. Resting echocardiograms were normal in 9 patients. In 1 subject there was mitral valve prolapse, and 1 patient possibly had an atrial septal defect (these findings were considered unrelated to hypophosphatemia). All M‐mode measurements were normal. The two‐dimensionally derived end‐diastolic and end‐systolic left ventricular volumes were 60.3 + 18.0 and 20.5 + 6.9 ml, respectively. Left ventricular ejection fraction was 66.1 + 4.7%, and the cardiac index by Doppler study was 4.1 + 0.8 liters/min per m2 (both values were within normal limits). Although the precise pathogenesis of XLH is unknown and our findings suggest that some electrocardiographic abnormalities may be common in this disorder, we found no evidence for left ventricular dysfunction in this human model of clinically significant long‐standing hypophosphatemia.

Original languageEnglish (US)
Pages (from-to)469-474
Number of pages6
JournalJournal of Bone and Mineral Research
Issue number5
StatePublished - May 1990

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Orthopedics and Sports Medicine


Dive into the research topics of 'Normal left ventricular performance in children with x‐linked hypophosphatemic rickets: A doppler echocardiography study'. Together they form a unique fingerprint.

Cite this