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Kardiovasculäre Manifestationsformen des Marfan Syndroms

Cardiovascular manifestations of Marfan's syndrome

Pathomorphologische, pathophysiologische und klinische Aspekte

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Summary

A review of the past and recent literature on Marfan's syndrome is presented with special reference to the different forms of cardiovascular pathological and clinical features of the disease. The findings formerly published are critically revised. The relation between clinical and pathomorphological examinations are pointed out.

The typical dilatation of the aortic root and the consecutive development of Sinus Valsalvae aneurysms with or without valvular insufficiency are described in detail. The peculiar aspects of pathomorphological and clinical manifestations with additional comments on the differential diagnosis in children, adolescents and adults are discussed. Observations of accelerated development of changes in aortic aneurysms in pregnancy are presented.

A further section of the review deals with the typical changes of the valvular tissue in Marfan's syndrome. Most often, the mitral valve seems to be affected by the process of “myxomatous transformation”. The knowledge of these valvular lesions was considerably promoted by the more sophisticated techniques applied in cardiology and radiology since 1960. The characteristic symptomatology of the valvular changes of the mitral valve is manifested by the “billowing” and the “floppy” valve syndrome, respectively. The pathomorphological changes in the “billowing” and “floppy” valve syndromes are correlated with the pathophysiological and especially the haemodynamic features.

The significance of a meso-systolic click combined with or without a late systolic murmur is emphasized as a leading symptom in the early diagnosis of Marfan's syndrome. The elective angiographic and haemodynamic findings and the more or less typical electrocardiographic patterns are discussed and illustrated by a paradigmatic case.

The so-called “formes frustes” recognized preferably by genealogical investigations show isolated manifestations, e.g. aortic dilatation or mitral involvement, and are often significant in the early diagnosis, course and prognosis of Marfan's syndrome. The diagnostic and prognostic values of modern haemodynamic techniques and angiographic methods is underscored. Therapeutic and prognostic aspects are discussed in brief.

Zusammenfassung

Es wird eine Übersicht über die im älteren und rezenten Schrifttum mitgeteilten kardiovasculären Symptome bei Marfan S. gegeben. Pathomorphologische und pathophysiologische Veränderungen sowie die klinischen Erscheinungsformen werden detailliert abgehandelt. Im älteren Schrifttum (bis etwa 1960) mitgeteilte verschiedenartige kardiovasculäre Befunde werden kritisch revidiert. Die Beziehungen von klinischen und pathomorphologischen Untersuchungsergebnissen werden herausgestellt.

Über die bei Marfan S. charakteristischen histologischen Veränderungen der Aortenwand mit Dilatation der Aorta thoracica ascendens und Entwicklung von Sinus Valsalvae-Aneurysmen mit oder ohne begleitende Aortenklappenin-suffizienz wird ausführlich berichtet. Dabei werden pathomorphologische, klinische und differentialdiagnostische Aspekte im Kindes-, Jugend- und Erwachsenenalter sowie in der Gravidität erörtert. Auf Komplikationen bei Sinus Valsalvae-Aneurysmen wird hingewiesen.

Als weitere charakteristische Manifestation bei Marfan S. sind besondere Formen von Klappenveränderungen durch moderne Untersuchungsmethoden für Herz- und Gefäßkrankheiten erkannt und symptomatologisch abgegrenzt worden. Am häufigsten ist die Valvula mitralis durch „myxomatöse Transformation“ verändert. Die charakteristische Symptomatologie dieser progredienten Mitralklappenveränderung bei Marfan S. manifestiert sich durch ein „Billowing Valve“-bzw. ein „Floppy Valve“-Syndrom; diese Klappensyndrome werden speziell beschrieben und pathomorphologische Befunde in Beziehung zu pathophysiologischen und hämodynamischen Vorgängen erörtert.

Das auskultatorische Leitsymptom eines mesosystolischen Klick ohne oder mit einem spätsystolischen Geräusch wird für die Frühdiagnose kardiovasculärer Veränderungen bei Marfan S. als wesentlich hervorgehoben. Ferner wird über angiokardiographische und elektrokardiographische Untersuchungsergebnisse berichtet. Typische Befunde eines Patienten mit Marfan S. sind beigefügt.

Die Ergebnisse genealogischer Untersuchungen über verschiedene kardiovasculäre Manifestationen und “formes frustes“ mit solitären Befunden an der Aorta (Dilatation und Aneurysmen) und an der Mitralklappe („Billowing Valve“-bzw. „Floppy Valve“-Syndrom) werden hinsichtlich ihrer Bedeutung für die frühe Erkennung, Verlauf und Prognose des Marfan S. dargestellt.

Der Wert moderner angiographischer und hämodynamischer Untersuchungsmethoden für die frühe Diagnose und exakte Abgrenzung der typischen Symptomatologie kardiovasculärer Erscheinungsformen des Marfan S. wird hervorgehoben. Auf prophylaktische und therapeutische Maßnahmen wird kurz hingewiesen.

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Kühl, I., Fricke, G. Kardiovasculäre Manifestationsformen des Marfan Syndroms. Klin Wochenschr 51, 1129–1142 (1973). https://doi.org/10.1007/BF01468562

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