Surgical septal myectomy for relief of dynamic obstruction in Anderson-Fabry Disease

Meghji, Zahara; Nguyen, Anita; Miranda, William R.; Schaff, Hartzell V.; Peck, Dawn; Newman, Darrell B.

doi:10.1016/j.ijcard.2019.06.042

Cited by 11 publications

(12 citation statements)

References 14 publications

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“…Septal reduction therapy is recommended in patients with a resting or provoked LVOT gradient ≥50 mm Hg, who are in NYHA class III-IV, despite maximum tolerated medical therapy [51,210,211]. Septal reduction therapy should be considered in patients with a resting or provoked LVOT gradient ≥50 mm Hg, who suffer recurrent exertional syncope, despite maximum tolerated medical therapy [51,210,211].…”

Section: Septal Reduction Therapy (Myectomy/alcohol Ablation Therapy)mentioning

confidence: 99%

“…In patients with resting or latent LVOT obstruction, digoxin is not recommended and vasodilators, such as angiotensin converting enzyme inhibitors, angiotensin II receptor blockers, dihydropyridines, and nitrates, should be avoided, if possible [ 51 , 145 ]. Myectomy should be performed in the rare cases of LVOT obstruction associated with severe symptoms of heart failure or syncope, resulting in excellent operative outcome and relief of LVOT obstruction and symptoms [ 210 ]. Septal alcohol ablation may be a safe alternative treatment for alleviation of LVOT obstruction and improvement of related heart failure in Fabry patients [ 211 ].…”

Section: Cardiac Treatment In Fdmentioning

confidence: 99%

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Fabry Disease and the Heart: A Comprehensive Review

Azevedo

Cordeiro

Gago

et al. 2021

IJMS

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Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the GLA gene that result in a deficiency of the enzymatic activity of α-galactosidase A and consequent accumulation of glycosphingolipids in body fluids and lysosomes of the cells throughout the body. GB3 accumulation occurs in virtually all cardiac cells (cardiomyocytes, conduction system cells, fibroblasts, and endothelial and smooth muscle vascular cells), ultimately leading to ventricular hypertrophy and fibrosis, heart failure, valve disease, angina, dysrhythmias, cardiac conduction abnormalities, and sudden death. Despite available therapies and supportive treatment, cardiac involvement carries a major prognostic impact, representing the main cause of death in FD. In the last years, knowledge has substantially evolved on the pathophysiological mechanisms leading to cardiac damage, the natural history of cardiac manifestations, the late-onset phenotypes with predominant cardiac involvement, the early markers of cardiac damage, the role of multimodality cardiac imaging on the diagnosis, management and follow-up of Fabry patients, and the cardiac efficacy of available therapies. Herein, we provide a comprehensive and integrated review on the cardiac involvement of FD, at the pathophysiological, anatomopathological, laboratory, imaging, and clinical levels, as well as on the diagnosis and management of cardiac manifestations, their supportive treatment, and the cardiac efficacy of specific therapies, such as enzyme replacement therapy and migalastat.

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Section: Septal Reduction Therapy (Myectomy/alcohol Ablation Therapy)mentioning

confidence: 99%

Section: Cardiac Treatment In Fdmentioning

confidence: 99%

Fabry Disease and the Heart: A Comprehensive Review

Azevedo

Cordeiro

Gago

et al. 2021

IJMS

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“…Left ventricular outflow tract obstruction (LVOTO) is common in HCM, while it is rare in FD. However, some cases of FD patients with LVOTO have been reported and successfully treated by surgery as HCM, 2–5 while midventricular obstruction is anecdotally described 6,7 …”

Section: Variables Case 1 Case 2 Casementioning

confidence: 99%

“…1 Left ventricular outflow tract obstruction (LVOTO) is common in HCM, while it is rare in FD. However, some cases of FD patients with LVOTO have been reported and successfully treated by surgery as HCM, [2][3][4][5] while midventricular obstruction is anecdotally described. 6,7 Here, we report three cases of severe FD cardiomyopathy evolving into obstructive forms, characterized by midventricular obstruction rather than LVOTO, mainly caused by massive LVH involving the papillary muscles.…”

mentioning

confidence: 99%

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

et al. 2020

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Aims 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. Methods and results 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. Conclusions 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 therapy initiation. This newly described cardiac phenotype could represent an adverse outcome of the disease.

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“…3 Because the underlying pathophysiology in FD is different from sarcomeric HC, there is a concern whether established non-pharmacological treatments of LVOTO in HC would be effective in FD. The literature describes only a small group of patients who have undergone surgical myectomy, 4,5 or single myectomy case including discussion of our previous abstract data. 6 However, only a single case report of a successful alcohol septal ablation (ASA) was published previously.…”

mentioning

confidence: 99%

Usefulness of Alcohol Septal Ablation in the Left Ventricular Outflow Tract Obstruction in Fabry Disease Cardiomyopathy

Zemánek

Marek

Dostálová

et al. 2021

The American Journal of Cardiology

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Fabry disease (FD) is an X-linked linked genetic disorder caused by a-galactosidase A deficiency. The typical clinical manifestation is left ventricular hypertrophy, often mimicking hypertrophic cardiomyopathy (HC). In contrast to sarcomeric HC, left ventricular outflow tract obstruction (LVOTO) is less frequent. We describe 6 male patients with genetically confirmed FD and symptomatic LVOTO. All of them underwent a transcatheter alcohol septal ablation with an immediate effect on the obstruction in all cases and without any serious complications. The median LVOT maximal pressure gradient was 85 (60 to 170) mm Hg. The hemodynamic effect persisted during subsequent follow-up (ranging from 6 months to 16 years). Five patients reported substantial symptomatic improvement. Four patients were receiving specific FD therapy before the interventional procedure. In conclusion, alcohol septal ablation appears to be effective in the treatment of LVOTO in patients with FD and appears to be comparable to the limited published experience with surgical septal myectomy. Despite some important differences between FD HC and sarcomeric HC, the recommendation for treating LVOTO should be similar.

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Surgical septal myectomy for relief of dynamic obstruction in Anderson-Fabry Disease

Cited by 11 publications

References 14 publications

Fabry Disease and the Heart: A Comprehensive Review

Fabry Disease and the Heart: A Comprehensive Review

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

Usefulness of Alcohol Septal Ablation in the Left Ventricular Outflow Tract Obstruction in Fabry Disease Cardiomyopathy

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