Storm syndrome

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 also diagnosed along with valvular heart disease.