NEW ORLEANS – There could come a day when cardiologists and dermatologists closely confer on patients with suspected severe mitral valve prolapse in an effort to save lives from sudden cardiac death, according to Dr. Paolo Romanelli.
Following his positive findings of an association between elevated proteoglycan biopsy results and severe mitral valve prolapse reported in a letter (J. Am. Acad. Dermatol. 2008;59:168-9), Dr. Romanelli continued to spread the word at this year’s annual meeting of the American Academy of Dermatology.
"Skin biopsy may be a useful adjunct to echocardiography in the detection of clinically significant mitral valve prolapse," Dr. Romanelli said. "Knowing the extent of the skin involvement in such patients would provide new insights into the pathogenesis of possible cardiac complications."
Dr. Romanelli and his associates compared eight patients with echocardiography-proven severe mitral valve prolapse (MVP) and six controls with no cardiac symptoms. They took two 4-mm punch biopsies from normal-appearing forearm skin of each participant to test for proteoglycan mucin levels.
Their theory that myxomatous changes in the skin could predict severe MVP is based on multiple studies in the scientific literature, starting with a study of 237 MVP patients that linked cases of sudden death to myxomatous degeneration of their mitral valves (N. Engl. J. Med. 1985;313:1305-9).
MVP is characterized by accumulation of mucinous material in valve leaflets, membranous and atrial septum, and mitral and tricuspid valve rings. Most people with primary MVP remain asymptomatic and do not require treatment, Dr. Romanelli said. In rare cases, however, severe consequences – including sudden death – can occur (N. Engl. J. Med. 1999;341:1-7).
Dr. Romanelli’s study demonstrated that quantitative proteoglycan analysis was greater among patients with MVP (0.6 mg/g), compared with controls (0.4 mg/g). In addition, semiquantitative assessment of proteoglycan deposition by hematoxylin-eosin staining and colloidal iron staining was a mean 3.4 in MVP patients, compared with 1.0 in controls, noted Dr. Romanelli of the department of dermatology and cutaneous surgery at the University of Miami.
All participants were younger than 55 years. All of the MVP patients were comorbid with conditions that included atrial fibrillation, palpitations, and mild chest discomfort.
A number of dermatologic conditions are associated with MVP, Dr. Romanelli said, such as Marfan and Ehlers-Danlos syndrome, cutis laxa, and other connective tissue diseases with a genetic basis.
The study findings need to be validated, Dr. Romanelli said. Nevertheless, he said he foresees a time when a skin biopsy will predict the subset of patients at greatest risk for arrhythmias and sudden death from MVP. Once identified, further work-up of their cardiac conduction systems would be indicated.
Dr. Romanelli said that he had no relevant disclosures.