Myocardial infarction with non-obstructive coronary arteries in hypertrophic cardiomyopathy vs Fabry disease

Graziani, Francesca; Lillo, Rosa E.; Biagini, Elena; Limongelli, Giuseppe; Autore, Camillo; Pieroni, Maurizio; Lanzillo, Chiara; Calò, Leonardo; Musumeci, Maria Beatrice; Ingrasciotta, Gessica; Minnucci, Matteo; Ditaranto, Raffaello; Milazzo, Alessandra; Zocchi, Chiara; Rubino, Marta; Lanza, Gaetano Antonio; Olivotto, Iacopo; Crea, Filippo

doi:10.1016/j.ijcard.2022.07.046

Cited by 11 publications

(3 citation statements)

References 15 publications

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“…In one cohort study of patients with HCM and AFD, myocardial infarction with non-obstructive coronary arteries (MINOCA) occurred in 7.5% of AFD patients compared to 0.5% of HCM patients over a mean follow-up of 4.5 years (63). Furthermore, MINOCA was more common among patients with LVH, with MINOCA occurring in 17.7% of patients with LVH compared with 1.7% of patients without LVH (63). AFD was independently associated with MINOCA (OR 6.12) suggesting that MINOCA may represent a red flag for AFD (63).…”

Section: Ischemic Heart Diseasementioning

confidence: 96%

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Anderson-Fabry disease cardiomyopathy: an update on epidemiology, diagnostic approach, management and monitoring strategies

Averbuch

White

Fine

2023

Front. Cardiovasc. Med.

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Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by deficient activity of the enzyme alpha-galactosidase. While AFD is recognized as a progressive multi-system disorder, infiltrative cardiomyopathy causing a number of cardiovascular manifestations is recognized as an important complication of this disease. AFD affects both men and women, although the clinical presentation typically varies by sex, with men presenting at a younger age with more neurologic and renal phenotype and women developing a later onset variant with more cardiovascular manifestations. AFD is an important cause of increased myocardial wall thickness, and advances in imaging, in particular cardiac magnetic resonance imaging and T1 mapping techniques, have improved the ability to identify this disease non-invasively. Diagnosis is confirmed by the presence of low alpha-galactosidase activity and identification of a mutation in the GLA gene. Enzyme replacement therapy remains the mainstay of disease modifying therapy, with two formulations currently approved. In addition, newer treatments such as oral chaperone therapy are now available for select patients, with a number of other investigational therapies in development. The availability of these therapies has significantly improved outcomes for AFD patients. Improved survival and the availability of multiple agents has presented new clinical dilemmas regarding disease monitoring and surveillance using clinical, imaging and laboratory biomarkers, in addition to improved approaches to managing cardiovascular risk factors and AFD complications. This review will provide an update on clinical recognition and diagnostic approaches including differentiation from other causes of increased ventricular wall thickness, in addition to modern strategies for management and follow-up.

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Section: Ischemic Heart Diseasementioning

confidence: 96%

“…Furthermore, MINOCA was more common among patients with LVH, with MINOCA occurring in 17.7% of patients with LVH compared with 1.7% of patients without LVH (63). AFD was independently associated with MINOCA (OR 6.12) suggesting that MINOCA may represent a red flag for AFD (63).…”

Section: Ischemic Heart Diseasementioning

confidence: 96%

Anderson-Fabry disease cardiomyopathy: an update on epidemiology, diagnostic approach, management and monitoring strategies

Averbuch

White

Fine

2023

Front. Cardiovasc. Med.

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“…Despite ischaemia being considered a significant contributor to the natural history of HCM [ 3 ], recommendations to assess ischaemic burden are absent from clinical guidelines, and HCM-specific strategies to mitigate ischaemia remain limited. This is in part because the treatment of ischaemia in HCM is complicated by multiple pathophysiological mechanisms, with many patients demonstrating evidence of myocardial infarction in the absence of epicardial coronary stenoses [ 5 – 8 ], such that multiple other pro-ischaemic mechanisms must be considered alongside therapeutic strategies other than revascularisation [ 6 ]. Despite their importance, the HCM-specific pro-ischaemic mechanisms are not yet fully understood.…”

Section: Introductionmentioning

confidence: 99%

Mechanisms and prognostic impact of myocardial ischaemia in hypertrophic cardiomyopathy

Coleman

Ashkir

Raman

et al. 2023

Int J Cardiovasc Imaging

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Despite the progress made in risk stratification, sudden cardiac death and heart failure remain dreaded complications for hypertrophic cardiomyopathy (HCM) patients. Myocardial ischaemia is widely acknowledged as a contributor to cardiovascular events, but the assessment of ischaemia is not yet included in HCM clinical guidelines. This review aims to evaluate the HCM-specific pro-ischaemic mechanisms and the potential prognostic value of imaging for myocardial ischaemia in HCM. A literature review was performed using PubMed to identify studies with non-invasive imaging of ischaemia (cardiovascular magnetic resonance, echocardiography, and nuclear imaging) in HCM, prioritising studies published after the last major review in 2009. Other studies, including invasive ischaemia assessment and post-mortem histology, were also considered for mechanistic or prognostic relevance. Pro-ischaemic mechanisms in HCM reviewed included the effects of sarcomeric mutations, microvascular remodelling, hypertrophy, extravascular compressive forces and left ventricular outflow tract obstruction. The relationship between ischaemia and fibrosis was re-appraised by considering segment-wise analyses in multimodal imaging studies. The prognostic significance of myocardial ischaemia in HCM was evaluated using longitudinal studies with composite endpoints, and reports of ischaemia-arrhythmia associations were further considered. The high prevalence of ischaemia in HCM is explained by several micro- and macrostructural pathological features, alongside mutation-associated energetic impairment. Ischaemia on imaging identifies a subgroup of HCM patients at higher risk of adverse cardiovascular outcomes. Ischaemic HCM phenotypes are a high-risk subgroup associated with more advanced left ventricular remodelling, but further studies are required to evaluate the independent prognostic value of non-invasive imaging for ischaemia.

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Renal and multisystem effectiveness of 3.9 years of migalastat in a global real‐world cohort: Results from the followME Fabry Pathfinders registry

Hughes,

Sunder‐Plassmann,

Jovanovic

et al. 2024

J of Inher Metab Disea

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Fabry disease is a progressive, X‐linked lysosomal disorder caused by reduced or absent α‐galactosidase A activity due to GLA variants. The effects of migalastat were examined in a cohort of 125 Fabry patients with migalastat‐amenable GLA variants in the followME Pathfinders registry (EUPAS20599), an ongoing, prospective, patient‐focused registry evaluating outcomes for current Fabry disease treatments. We report annualised estimated glomerular filtration rate (eGFR) and Fabry‐associated clinical events (FACEs) in a cohort of patients who had received ≥3 years of migalastat treatment in a real‐world setting. As of August 2022, 125 patients (60% male) had a mean migalastat exposure of 3.9 years. At enrolment, median age was 58 years (males, 57; females, 60) with a mean eGFR of 83.7 mL/min/1.73 m2 (n = 122; males, 83.7; females, 83.8) and a median left ventricular mass index of 115.1 g/m2 (n = 61; males, 131.2; females, 98.0). Mean (95% confidence interval) eGFR annualised rate of change in the overall cohort (n = 116) was −0.9 (−10.8, 9.9) mL/min/1.73 m2/year with a similar rate of change observed across patients with varying levels of kidney function at enrolment. Despite population age and baseline morbidity, 80% of patients did not experience a FACE during the mean 3.9 years of migalastat exposure. The incidence of renal, cardiac, and cerebrovascular events was 2.0, 83.2, and 4.1 events per 1000 patient‐years, respectively. These data support a role of migalastat in preserving renal function and multisystem effectiveness during ≥3 years of migalastat treatment in this real‐world Fabry population.

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Myocardial infarction with non-obstructive coronary arteries in hypertrophic cardiomyopathy vs Fabry disease

Cited by 11 publications

References 15 publications

Anderson-Fabry disease cardiomyopathy: an update on epidemiology, diagnostic approach, management and monitoring strategies

Anderson-Fabry disease cardiomyopathy: an update on epidemiology, diagnostic approach, management and monitoring strategies

Mechanisms and prognostic impact of myocardial ischaemia in hypertrophic cardiomyopathy

Renal and multisystem effectiveness of 3.9 years of migalastat in a global real‐world cohort: Results from the followME Fabry Pathfinders registry

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