• Title of article

    Progeria syndrome with cardiac complications

  • Author/Authors

    Ilyas, Saadia Pakistan Heart Foundation - Muhammadi Hospital, International Medical Research Centre, Pakistan , Ilyas, Hajira Queen s Hospital, UK , Hameed, Abdul Khyber Teaching Hospital - Children B-Ward, Pakistan , Ilyas, Muhammad Pakistan Heart Foundation - Muhammadi Hospital, International Medical Research Centre, Pakistan

  • From page
    1182
  • To page
    1185
  • Abstract
    A case report of 6-year-old boy with progeria syndrome, with marked cardiac complications is presented. The boy had cardiorespiratory failure. Discoloured purpuric skin patches, alopecia, prominent forehead, protuberant eyes, flattened nasal cartilage, malformed mandible, hypodentition, and deformed rigid fingers and toes were observed on examination. The boy was unable to speak. A sclerotic systolic murmur was audible over the mitral and aortic areas. Chest x-rays showed cardiac enlargement and the electrocardiogram (ECG) showed giant peaked P waves (right atrial hypertrophy) and right ventricular hypertrophy. Atherosclerotic dilated ascending aorta, thickened sclerotic aortic, mitral, and tricuspid valves with increased echo texture, left and right atrial and right ventricular dilatation, reduced left ventricular cavity, and thickened speckled atrial and ventricular septa were observed on echocardiography.
  • Keywords
    Progeria syndrome , Cardiorespiratory failure.
  • Journal title
    Journal of the Pakistan Medical Association (Centre) JPMA
  • Journal title
    Journal of the Pakistan Medical Association (Centre) JPMA
  • Record number

    2652727