Identification and Assessment of Anderson-Fabry Disease by Cardiovascular Magnetic Resonance Noncontrast Myocardial T1 Mapping

Sado, Daniel; White, Steven K; Piechnik, Stefan K.; Banypersad, Sanjay M.; Treibel, Thomas A.; Captur, Gabriella; Fontana, Marianna; Maestrini, Viviana; Flett, Andrew; Robson, Matthew D.; Lachmann, Robin; Murphy, Elaine; Mehta, Atul; Hughes, D.A.; Neubauer, Stefan; Elliott, Perry; Moon, James

doi:10.1161/circimaging.112.000070

Cited by 428 publications

(356 citation statements)

References 36 publications

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“…38,39 Although CMR findings may be suggestive of a phenocopy in a patient undergoing evaluation for HCM, CMR findings in themselves are not diagnostic and must be considered within the clinical contest of an individual patient.…”

Section: Infiltrative Cardiomyopathymentioning

confidence: 99%

“…49 It has been postulated that T1 mapping may emerge as a diagnostic imaging marker in differentiating pathological cardiovascular diseases such as HCM from that of other forms of LV hypertrophy (such as Fabry's disease 39 or amyloidosis 38 ) and that this technique may prove to be superior to LGE for risk stratification in HCM. However, to date, there has been no link between T1 mapping and cardiovascular outcomes within HCM.…”

mentioning

confidence: 99%

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The Role of Cardiac MRI in the Diagnosis and Risk Stratification of Hypertrophic Cardiomyopathy

Rowin¹,

Maron²

2016

Arrhythmia &Amp; Electrophysiology Review

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Hypertrophic cardiomyopathy (HCM), the most common genetic cardiomyopathy, is a disease characterised by substantial heterogeneity. Although the majority of patients with HCM remain asymptomatic with near-normal longevity, a small, but important, subset remain at risk for a wide range of clinical outcomes including sudden death. Cardiovascular magnetic resonance (CMR), with its high spatial resolution and tomographic imaging capability, has emerged as an imaging modality particularly well suited to characterise the phenotypic expression of HCM. CMR helps in the diagnosis of HCM by identifying areas of hypertrophy not well visualised by echocardiography, providing more accurate wall thickness measurements and differentiating HCM from other causes of left ventricular (LV) hypertrophy. CMR has led to the identification of novel subgroups of patients with HCM, including those with LV apical aneurysms (a subgroup at increased risk for ventricular arrhythmias and thromboembolic stroke), as well as abnormalities that contribute to LV outflow obstruction. Additionally, contrast-enhanced CMR with late-gadolinium enhancement (LGE) has recognised patients with extensive LGE (≥15 % LV myocardium) as individuals who may be at increased risk of sudden death, independent of other high-risk features, with implications on management strategies including consideration for primary prevention implantable cardioverter defibrillator therapy. These observations justify an expanded role of CMR in the routine clinical assessment of patients with HCM.

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Section: Infiltrative Cardiomyopathymentioning

confidence: 99%

mentioning

confidence: 99%

The Role of Cardiac MRI in the Diagnosis and Risk Stratification of Hypertrophic Cardiomyopathy

Rowin¹,

Maron²

2016

Arrhythmia &Amp; Electrophysiology Review

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“…cMRI is also a useful tool for assessing early cardiac involvement at diagnosis because it provides additional information to the Holter ECG, such as assessment of cardiac mass and detection of left ventricular hypertrophy [25]. It can detect the patterns of late gadolinium enhancement specific to AFD [25,26] and has the advantage of being noninvasive.…”

Section: Follow-upmentioning

confidence: 99%

“…It can detect the patterns of late gadolinium enhancement specific to AFD [25,26] and has the advantage of being noninvasive. cMRI is equally important at follow-up and is especially useful for detecting fibrosis [27].…”

Section: Follow-upmentioning

confidence: 99%

Delphi consensus on the current clinical and therapeutic knowledge on Anderson–Fabry disease

Concolino¹,

Degennaro²,

Parini³

et al. 2014

European Journal of Internal Medicine

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Background: Management of Anderson-Fabry disease (AFD) is contentious, particularly regarding enzyme replacement therapy (ERT). We report results of a Delphi consensus panel on AFD management. Methods: A survey to gauge consensus among AFD experts was distributed online and responses were analysed. Statements on: 1) diagnosis; 2) when starting ERT; 3) management of ERT infusion and adverse reactions; and 4) follow-up/monitoring response to therapy and progression of disease were included. Responses without consensus were discussed with an enlarged panel and modified to reach consensus. Results: 15 experts responded to the survey. After plenary discussion among the enlarged panel, consensus was reached on most statements. Key points were the use of a target organ biopsy to show Gb3 deposits in symptomatic women with negative molecular analysis, the need for ERT in symptomatic women and in all patients with persistent signs and symptoms ± organ damage. It was agreed to assess vital signs before ERT administration and use a 0.2 μL filter on infusion to reduce the risk of adverse reactions, that serum should be drawn prior to the first infusion for anti-agalsidase antibody analysis to have a baseline value if a subsequent adverse reaction appears, and that pre-medication is required in those with prior infusion reactions. Holter ECG monitoring, cardiac and brain MRI, renal parameters, and abdominal ultrasound were considered important for the assessment of disease progression and response at ERT. Conclusions: This consensus supplies guidance to healthcare providers on best practice in the management of patients with AFD and indicates a need for more guidance.

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“…46 T1 measures permit noninvasive detection of biologically and pathologically important processes related to excess water in edema, protein deposition, and other T1 altering substances such as lipid or iron in hemorrhage. [46][47][48][49][50] The ECV technique is sensitive to the distribution of the LV myocardium into its cellular and extracellular interstitial compartments. 47 Alterations in these compartments occurring from different physiologic and pathophysiologic biologic processes leading to fibrotic changes can be more easily detected with ECV than with LGE.…”

Section: Myocardial T1 Mapping and Extracellular Volume (Ecv) Fractionmentioning

confidence: 99%

Correlation of Electrocardiogram and Regional Cardiac Magnetic Resonance Imaging Findings in ST‐Elevation Myocardial Infarction: A Literature Review

Rinta-Kiikka

Tuohinen

Ryymin

et al. 2014

Noninvasive Electrocardiol

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Background:Patients with acute ST-elevation myocardial infarction (STEMI) benefit substantially from emergent coronary reperfusion. The principal mechanism is to open the occluded coronary artery to minimize myocardial injury. Thus the size of the area at risk is a critical determinant of the patient outcome, although other factors, such as reperfusion injury, have major impact on the final infarct size. Acute coronary occlusion almost immediately induces metabolic changes within the myocardium, which can be assessed with both the electrocardiogram (ECG) and cardiac magnetic resonance (CMR) imaging.Methods: The 12-lead ECG is the principal diagnostic method to detect and risk-stratify acute STEMI. However, to achieve a correct diagnosis, it is paramount to compare different ECG parameters with golden standards in imaging, such as CMR. In this review, we discuss aspects of ECG and CMR in the assessment of acute regional ischemic changes in the myocardium using the 17 segment model of the left ventricle presented by American Heart Association (AHA), and their relation to coronary artery anatomy.Results: Using the 17 segment model of AHA, the segments 12 and 16 remain controversial. There is an important overlap in myocardial blood supply at the antero-lateral region between LAD and LCx territories concerning these two segments.Conclusion: No all-encompassing correlation can be found between ECG and CMR findings in acute ischemia with respect to coronary anatomy.

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Identification and Assessment of Anderson-Fabry Disease by Cardiovascular Magnetic Resonance Noncontrast Myocardial T1 Mapping

Cited by 428 publications

References 36 publications

The Role of Cardiac MRI in the Diagnosis and Risk Stratification of Hypertrophic Cardiomyopathy

The Role of Cardiac MRI in the Diagnosis and Risk Stratification of Hypertrophic Cardiomyopathy

Delphi consensus on the current clinical and therapeutic knowledge on Anderson–Fabry disease

Correlation of Electrocardiogram and Regional Cardiac Magnetic Resonance Imaging Findings in ST‐Elevation Myocardial Infarction: A Literature Review

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