Mi SciELO
Servicios Personalizados
Articulo
Indicadores
- Citado por SciELO
Links relacionados
- Similares en SciELO
Compartir
Revista Cubana de Medicina
versión On-line ISSN 1561-302X
Resumen
PEREZ ASSEF, Jorge José y ALBERNAS REYES, Roiner Carlos. Marfan syndrome. Rev cubana med [online]. 2021, vol.60, suppl.1 Epub 01-Dic-2021. ISSN 1561-302X.
Marfan syndrome is a rare disease of autosomal dominant inheritance, with an incidence of 2-3 cases per 10,000 people. It is characterized by musculoskeletal, cardiovascular, ophthalmological and pulmonary manifestations. We report two patients with family ties, diagnosed in a specialized consultation, with characteristic somatoeskeletal alterations, high palate, dental signs and cardiac valve complications. The updated literature was reviewed and preventive and rehabilitative therapeutic guidelines were indicated. It is a rare clinical entity with uncertain prognosis. Its timely diagnosis foresees the detection of complications that can be invalidating, at the same time that an early treatment must be established that includes rehabilitation measures and allows better quality of life for the patient to achieve satisfactory life expectancy.
Palabras clave : fibrillin; genetics; mutation; Marfan syndrome; diagnosis.