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

Storm syndrome is a 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 dominates the clinical picture. Mitral 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.