Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Storm syndrome
Introduction
Overview
Overview
Storm syndrome is a rare progressive genetic disease characterized by premature aging and structural cardiac defects seen in a German family.
Pathophysiology
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
Differentiating from other diseases
Differences from Werner syndrome were dominant inheritance and lack of cataracts and scleroderma-type changes.
Diagnosis
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.
References
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]