Consequences of Lifting Heavy Weights in Marfan Syndrome and Concealment of Hereditary Disorders from Partners

What is it about?

Marfan syndrome (MS) is a genetic disorder with weakening of connective tissue. Clinical manifestations include a wide range of cardiovascular, ocular, and musculoskeletal derangements. The case presented here describes consequences of belated diagnosis of moderately expressed MS. Such cases may remain overlooked. The case reports a 68-year-old patient with symptoms of MS and corresponding family history, who presented with progressing prolapse of lower abdominal wall, perineal descent, and foot edema. MS was diagnosed at the age of over 30 years. Before that, the patient worked in construction and was engaged in other activities, including lifting of heavy weights. In conclusion, individuals with MS should avoid heavy weight lifting. Concealment from a partner or spouse of a known hereditary disorder may have consequences for the offspring. Timely diagnosis of MS and genetic counseling of populations at risk is important.

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