Association of Mitral Valve Prolapse and Systemic Abnormalities of Connective Tissue

Abstract

More than half of all patients evaluated in our clinic for the possible diagnosis of a heritable disorder of connective tissue could not be classified in the current nosology, yet they had considerable clinical evidence of a systemic defect of the extracellular matrix. As a group, these patients share many manifestations of the Marfan syndrome including long limbs, deformity of the thoracic cage, striae atrophicae, mitral valve prolapse, and mild dilatation of the aortic root. Clinical clustering did not emerge when patients were stratified by mitral valve prolapse or aortic dilatation. The clinical phenotype of patients with mitral valve prolapse constitutes a continuum, from Marfan syndrome at one extreme to isolated mitral valve prolapse due to myxomatous proliferation of the valve leaflets. In the absence of biochemical or DNA markers, discerning whether a patient with mitral valve prolapse and mild aortic root dilatation (in the absence of ectopia lentis or a family history) has Marfan syndrome, or another heritable disorder of connective tissue, will continue to be a clinical challenge. Until subclassification based on refined clinical, genetic, and laboratory investigations is possible, the patients we describe are best seen as having an "overlap" heritable connective-tissue disorder. We suggest the acronym "MASS phenotype" to emphasize involvement of the mitral valve, aorta, skeleton, and skin.

Aldosterone Levels and Heart Remodeling in Myocardial Infarction Patients With Non-Differentiated Connective Tissue Dysplasia

“…Оценка состояния соединительной ткани осу-ществлялась путем выявления стигм дисэмбриоге-неза на основании фенотипической карты, в основу которой легла модифицированная карта Мартыно-вым А. И. и соавторами карта M. J. Glesby (Glesby MJ, Pyeritz RE,1989) [13]. Достоверным критерием НДСТ служило наличие у больных шести и более стигм [10].…”

Floppy Mitral Valve (FMV)/Mitral Valve Prolapse (MVP) and the FMV/MVP Syndrome: Pathophysiologic Mechanisms and Pathogenesis of Symptoms

“…Skeletal abnormalities such as scoliosis, narrow anteroposterior chest diameter, strait back or pectus excavatum, may be found in FMV/MVP. Patients with FMV/MVP are often thinner than normal, have an arm span greater than body height, and their height/weight ratio exceeds that of normal controls [22,23,24,25,26]. …”

“…Isolated FMV/MVP is also considered a cardiovascular abnormality of connective tissue origin. Due to its frequency in the general population, FMV/MVP constitutes the larger group of patients with heritable connective tissue abnormalities of the heart [1,2,22]. …”

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.

“…FBNI gene mutations have been found to be responsible for a spectrum of conditions phenotypically related to the Marfan syndrome, including dominantly inherited ectopia lentis, severe neonatal Marfan syndrome, and the MASS phenotype, which refers to individuals or families with mitral valve prolapse, nonprogressive aortic root dilatation, and skin and skeletal features of the Marfan syndrome (7,8,11,(17)(18)(19) Preparation and electrophoretic analysis offibrillin. Dermal fibroblasts were obtained from the proband after appropriate consent.…”