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Asociación de prolapso de la válvula mitral y anormalidades sistémicas del tejido conectivo. Un continuo fenotípico
1Department of Medicine, Johns Hopkins Medical Institutions, Baltimore, MD 21205.
JAMA
|July 28, 1989
Resumen
Muchos pacientes con trastornos del tejido conectivo permanecen sin clasificar, exhibiendo características similares al síndrome de Marfan. Estos casos representan un trastorno hereditario del tejido conectivo "superpuesto", denominado fenotipo MASS.
Área de la Ciencia:
- Genética La genética.
- Reumatología Reumatología.
- Cardiología Cardiología.
Sus antecedentes:
- Más de la mitad de los pacientes evaluados por trastornos hereditarios del tejido conectivo carecen de la clasificación actual.
- Estos pacientes no clasificados a menudo presentan características clínicas que se superponen con el síndrome de Marfan.
Objetivo del estudio:
- Para describir una cohorte de pacientes con anormalidades superpuestas del tejido conectivo.
- Proponer una clasificación para los pacientes con características del síndrome de Marfan pero que no cumplen todos los criterios de diagnóstico.
Principales métodos:
- Evaluación clínica de pacientes con sospecha de trastornos hereditarios del tejido conectivo.
- Análisis fenotípico que incluye manifestaciones esqueléticas, cardíacas y cutáneas.
- Estratificación basada en el prolapso de la válvula mitral y la dilatación aórtica.
Principales resultados:
- Una proporción significativa de pacientes no se ajustaba a las nosologías existentes a pesar de la evidencia de defectos de la matriz extracelular.
- Las características comunes incluyen extremidades largas, deformidad torácica, estrías, prolapso de la válvula mitral y dilatación leve de la raíz aórtica.
- Los fenotipos formaban un continuo desde el síndrome de Marfan hasta el prolapso aislado de la válvula mitral.
Conclusiones:
- Existe un grupo distinto de pacientes con un trastorno hereditario del tejido conectivo "superpuesto".
- Se propone el "fenotipo MASS" (válvula mitral, aorta, esqueleto, piel) para estos pacientes.
- El diagnóstico clínico sigue siendo un reto sin marcadores genéticos o bioquímicos definitivos.
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