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[Familial forms of the mid-end systolic click and murmur syndrome with deviations of left ventricular kinetics]
Insights
Familial mitral valve prolapse, a "mid/end-diastolic click and murmur" syndrome, may be more common than previously thought. This suggests a likely congenital malformation, potentially linked to primary myocardial disorders.
Area of Science:
- Cardiology
- Genetics
- Pathology
Background:
- The etiology of mitral valve prolapse (MVP) with mid/end-diastolic murmurs is often unclear.
- Familial occurrence suggests a potential dysgenetic or congenital origin.
Purpose of the Study:
- To report seven new cases of familial MVP with mid/end-diastolic murmurs.
- To highlight the potential underestimation of familial MVP incidence.
- To explore the underlying mechanisms of this syndrome.
Main Methods:
- Clinical case reporting.
- Echocardiography for diagnosis and investigation.
- Cine-angiocardiography to assess left ventricular function.
Main Results:
- Seven new cases of familial MVP with characteristic murmurs were identified.
- Echocardiography proved crucial for diagnosis.
- Cine-angiocardiography revealed abnormalities in left ventricular function.
Conclusions:
- Familial MVP with mid/end-diastolic murmurs may be more prevalent than reported.
- The syndrome is likely due to a congenital malformation.
- Findings suggest an associated primary myocardial disorder contributing to valvular changes.
Abstract:
The aetiology and pathogenesis of the "mid/end-diastolic click and murmur" syndrome, with prolapse of the mitral valves, is obscure in most cases. However, the fact that some cases have had a familial distribution is evidence in favour of a dysgenetic origin. Seven new cases of this type are reported. The authors suggest in this paper that the incidence of the familial form of the syndrome is greater than the literature seems to suggest, and that the syndrome is likely to be due to a malformation. They also emphasise the important part which echocardiography plays in its diagnosis and investigation. Finally, the finding on cine-angiocardiography of specific abnormalities of left ventricular function similar to those found in other studies is indicative of a primary myocardial disorder, associated with subsequent structural alterations of the valvular mechanism.