2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy

Ommen, Steve R.; Mital, Seema; Burke, Michael A.; Day, Sharlene M.; Deswal, Anita; Elliott, Perry M.; Evanovich, Lauren L.; Hung, Judy; Joglar, José A.; Kantor, Paul F.; Kimmelstiel, Carey; Kittleson, M.; Link, Mark S.; Maron, Martin S.; Martinez, Matthew W.; Miyake, Christina Y.; Schaff, Hartzell V.; Semsarian, Christopher; Sorajja, Paul

doi:10.1161/cir.0000000000000937

Cited by 386 publications

(670 citation statements)

References 487 publications

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“…Dynamic LV obstruction is associated with an unfavorable clinical course and the risk of sudden death and should be considered a therapeutic target in HCM patients [ 18 , 19 , 20 , 21 ]. In symptomatic patients who are unresponsive to medical therapy, septal reduction, including SM or ASA, may be clinically beneficial [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 22 , 23 , 24 ]. To optimize the septal reduction treatment of obstructive HCM, a careful work-up should address the obstruction mechanisms, exclude the primary causes of mitral regurgitation, and provide an accurate measurement of the thickness of the septum in the TSZ responsible for LV obstruction [ 25 , 26 , 27 ].…”

Section: Discussionmentioning

confidence: 99%

Targeting Alcohol Septal Ablation in Patients with Obstructive Hypertrophic Cardiomyopathy Candidates for Surgical Myectomy: Added Value of Three-Dimensional Intracoronary Myocardial Contrast Echocardiography

Canna

Scarfò

Arendar

et al. 2021

JCM

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Background: Myocardial contrast two-dimensional echocardiography (MC-2DE) is widely used to address alcohol septal ablation (ASA) in obstructive hypertrophic cardiomyopathy (HCM). Owing to its limited cut-planes, MC-2DE may inaccurately identify the contrast misplacement associated with an unsuccessful or complicated ASA outcome. Objective: The aim of this study was to assess the added value of myocardial contrast three-dimensional echocardiography (MC-3DE) compared with MC-2DE to identify the appropriate matching between the target septal zone (TSZ) and coronary artery branch for safe and long-term effective ASA in HCM patients. Methods: A consecutive series of 52 symptomatic obstructive HCM patients referred for isolated surgical myectomy (SM) was analyzed with MC-2DE and MC-3DE following injection of echocontrast into one or more septal branches. MC-2DE and MC-3DE patterns were categorized according to complete (Type 1) or incomplete (Type 2) TSZ covering, high-risk (Type 3) exceeding TSZ, or life-threatening outside TSZ distribution (Type 4). Results: MC-2DE per patient analysis showed a Type 1 pattern in 32 patients and Types 2–4 in the remaining 20 patients; subsequent MC-3DE analysis provided a re-phenotyping of MC-2DE findings in 22 of the 52 patients (42%), showing a high-risk Type 2 pattern in 17 of the 32 patients with Type 1, and a new life-threatening Type 4 in three patients with Type 2, respectively. All patients with MC-3DE Type 1 pattern underwent safe and effective ASA with a long-term uneventful follow-up, while the remaining patients underwent SM. Conclusions: Refining high risk or life-threatening contrast misplacement, MC-3DE is more accurate than conventional MC-2DE to target safe and long-term effective septal reduction with ASA in obstructive HCM patients referred for isolated SM.

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Section: Discussionmentioning

confidence: 99%

Targeting Alcohol Septal Ablation in Patients with Obstructive Hypertrophic Cardiomyopathy Candidates for Surgical Myectomy: Added Value of Three-Dimensional Intracoronary Myocardial Contrast Echocardiography

Canna

Scarfò

Arendar

et al. 2021

JCM

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“…They can be either confined to the heart (“primary cardiomyopathy”) or part of generalized systemic disorders (“secondary cardiomyopathy”), often leading to cardiovascular death or progressive heart failure-related disability [ 1 ]. The most common cardiomyopathy is hypertrophic cardiomyopathy (HCM) caused by variants in sarcomeric (or sarcomere-related) genes, characterized by left ventricular hypertrophy in the absence of another cardiac, systemic, or metabolic disease capable of producing the magnitude of hypertrophy evident [ 2 ]. A key pathophysiological aspect of HCM is diastolic dysfunction, which can be severe enough to determine a restrictive left ventricular filling pattern [ 3 ], raising problems of differential diagnosis with primary restrictive cardiomyopathy (RCM).…”

Section: Introductionmentioning

confidence: 99%

Hypertrophic Cardiomyopathy and Primary Restrictive Cardiomyopathy: Similarities, Differences and Phenocopies

Vio

Angelini

Basso

et al. 2021

JCM

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Hypertrophic cardiomyopathy (HCM) and primary restrictive cardiomyopathy (RCM) have a similar genetic background as they are both caused mainly by variants in sarcomeric genes. These “sarcomeric cardiomyopathies” also share diastolic dysfunction as the prevalent pathophysiological mechanism. Starting from the observation that patients with HCM and primary RCM may coexist in the same family, a characteristic pathophysiological profile of HCM with restrictive physiology has been recently described and supports the hypothesis that familiar forms of primary RCM may represent a part of the phenotypic spectrum of HCM rather than a different genetic cardiomyopathy. To further complicate this scenario some infiltrative (amyloidosis) and storage diseases (Fabry disease and glycogen storage diseases) may show either a hypertrophic or restrictive phenotype according to left ventricular wall thickness and filling pattern. Establishing a correct etiological diagnosis among HCM, primary RCM, and hypertrophic or restrictive phenocopies is of paramount importance for cascade family screening and therapy.

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“…Cascade health service use has consequences for patients’ relatives, as well as for the health system as a whole. For example, cascade testing may lead to initiation or cessation of periodic screening and surveillance, uncover the need for prevention measures (e.g., implantation of an implantable cardiac defibrillator to ameliorate the risk of sudden cardiac death in the case of cardiomyopathy (CMP)), trigger reproductive decision making, or trigger lifestyle modifications in family members [ 6 ]. There are also costs to the health care system: physician and genetic counseling fees for pre- and post-test counseling and follow-up appointments, the cost of medical supplies and technician time for testing and screening, and potentially some pharmaceutical costs [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

“…As genetic and genomic technologies are implemented more widely, it is increasingly important to consider how cascade consequences ought to be included, since genetic testing performed in a patient enables surveillance in family members as part of recommended clinical management. While the cascade health service consumption triggered in family members can increase health system costs, it can also improve quality and length of life in family members through risk mitigation, preventative care, or earlier diagnosis of a rare condition where symptoms are not yet presenting [ 6 , 14 ]. However, there are methodological challenges associated with incorporating cascade health service use in economic evaluation of technologies directed at children and adults.…”

Section: Introductionmentioning

confidence: 99%

Incorporating Cascade Effects of Genetic Testing in Economic Evaluation: A Scoping Review of Methodological Challenges

et al. 2021

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Cascade genetic testing is indicated for family members of individuals testing positive on a genetic test, and is particularly relevant for child health because of their vulnerability and the long-term health and economic implications. Cascade testing has patient- and health system-level implications; however cascade costs and health effects are not routinely considered in economic evaluation. The methodological challenges associated with incorporating cascade effects in economic evaluation require examination. The purpose of this scoping review was to identify published economic evaluations that considered cascade genetic testing. Citation databases were searched for English-language economic evaluations reporting on cascade genetic testing. Nineteen publications were included. In four, genetic testing was used to identify new index patients—cascade effects were also considered; thirteen assessed cascade genetic testing strategies for the identification of at-risk relatives; and two calculated the costs of cascade genetic testing as a secondary objective. Methodological challenges associated with incorporating cascade effects in economic evaluation are related to study design, costing, measurement and valuation of health outcomes, and modeling. As health economic studies may currently be underestimating both the cost and health benefits attributable to genetic technologies through omission of cascade effects, development of methods to address these difficulties is required.

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2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy

Cited by 386 publications

References 487 publications

Targeting Alcohol Septal Ablation in Patients with Obstructive Hypertrophic Cardiomyopathy Candidates for Surgical Myectomy: Added Value of Three-Dimensional Intracoronary Myocardial Contrast Echocardiography

Targeting Alcohol Septal Ablation in Patients with Obstructive Hypertrophic Cardiomyopathy Candidates for Surgical Myectomy: Added Value of Three-Dimensional Intracoronary Myocardial Contrast Echocardiography

Hypertrophic Cardiomyopathy and Primary Restrictive Cardiomyopathy: Similarities, Differences and Phenocopies

Incorporating Cascade Effects of Genetic Testing in Economic Evaluation: A Scoping Review of Methodological Challenges

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