Storm syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Overview

Rare progressive genetic disease characterized by premature aging and structural cardiac defects seen in a German family.

Pathophysiology

Storm syndrome a rare genetic disease of the connective tissue, is transmitted from male to male. It is characterized by early progressive calcific cardiac valvular disease which dominate the clinical picture. <itral valves and aortic valves are involved predominantly in the disease process

Differentiating from other diseases

Differences from Werner syndrome were dominant inheritance and lack of cataracts and scleroderma-type changes.


Diagnosis

Symptoms

  • Premature aging
  • Cardiac symptoms
  • Intestinal fat malabsorption

Physical Examination

  • Taut skin over hands and face
  • Excessive wrinkling of the palmar skin - giving an aged appearance
  • Loss of eye brows and eyelashes
  • Thinning and graying of scalp hair in adolescents

In some young individuals polyarticular arthropathy and rheumatic fever were diagnosed along with valvular heart disease.

References

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