Evidence of evolution towards left midventricular obstruction in severe Anderson-Fabry cardiomyopathy.

ESC Heart Failure
Francesca GrazianiFilippo Crea

Abstract

In Fabry cardiomyopathy, left ventricular outflow tract obstruction mimicking hypertrophic cardiomyopathy is a very rare finding, with few cases reported and successfully treated with cardiac surgery. In our population of patients with Fabry disease and severe left ventricular hypertrophy (LVH) at the time of diagnosis, we observed an evolution towards a midventricular obstructive phenotype. We present a case series of three classically affected Fabry male patients with significant diagnostic delay and severe cardiac involvement (maximal wall thickness >20 mm) at first evaluation. All patients developed midventricular obstructive form over time despite prompt initiation and optimal compliance to enzyme replacement therapy. The extension and distribution of the LVH, involving the papillary muscles, was the main mechanism of obstruction, unlike the asymmetric septal basal hypertrophy and the mitral valve abnormalities commonly seen as substrate of left ventricular outflow tract obstruction in hypertrophic cardiomyopathy. Fabry cardiomyopathy can evolve over time towards a midventricular obstructive form due to massive LVH in classically affected men with significant diagnostic delay and severe LVH before enzyme replacement therap...Continue Reading

References

Apr 3, 2007·Heart·Ales Linhart, Perry M Elliott
Jun 28, 2011·Journal of the American College of Cardiology·Margherita CalcagninoPerry M Elliott
Mar 19, 2014·Journal of the American College of Cardiology·Jeffrey B GeskeBernard J Gersh
Feb 17, 2015·Echocardiography·Tomás F CianciulliIsaac Kisinovsky
Jun 11, 2019·Circulation. Cardiovascular Imaging·Francesca GrazianiFilippo Crea
Jul 3, 2019·International Journal of Cardiology·Zahara MeghjiDarrell B Newman

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Citations

May 1, 2021·International Journal of Molecular Sciences·Olga AzevedoDamião Cunha

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