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; 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:10.1016/j.jacc.2020.08.045

Cited by 447 publications

(413 citation statements)

References 474 publications

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“…AF in HCM is associated with a substantial risk for heart failure–related mortality, stroke, and severe functional disability 5 – 7 . Patients with HCM and AF often need more procedures and frequently additional antiarrhythmic drug therapy in order to maintain sinus rhythm.…”

Section: Discussionmentioning

confidence: 99%

“…A total of 23 consecutive HCM patients with symptomatic AF, having undergone AF ablation procedures between 2009 and 2012, were matched with the use of a propensity score for clinical characteristics (based on the CHADS-VASc score) and compared for the LA anatomy with 125 patients without LV hypertrophy from the prospective Leipzig Heart Center Ablation registry. The diagnosis of HCM was based on two-dimensional echocardiographic evidence of a hypertrophied, non-dilated left ventricle (LV wall thickness ≥ 15 mm) and/or relevant outflow tract obstruction, in the absence of any other cardiac or systemic condition capable of producing such magnitude of hypertrophy 5 . In HCM patients with concomitant arterial hypertension, diagnosis of HCM was based on complementary criteria (i.e., LV outflow tract obstruction, magnitude or location of LVH) or the evidence of a mutation in gene analysis.…”

Section: Methodsmentioning

confidence: 99%

“…In contrast to the general population, almost one in four HCM-patients will develop AF during the clinical course of the disease. AF in HCM is associated with LA dilatation, clinical deterioration, increased mortality and adverse events 5 – 7 . However, hereto little is known about the anatomical LA changes associated with HCM.…”

Section: Introductionmentioning

confidence: 99%

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Characteristics of left atrial remodeling in patients with atrial fibrillation and hypertrophic cardiomyopathy in comparison to patients without hypertrophy

Nedios

Dinov

Seewöster

et al. 2021

Sci Rep

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Atrial fibrillation (AF) leads to remodeling characterized by changes in both size and shape of the left atrium (LA). Here we aimed to study the effect of hypertrophic cardiomyopathy (HCM) on the pattern of LA remodeling in AF-patients. HCM-patients (n = 23) undergoing AF ablation (2009–2012) were matched and compared with 125 Non-HCM patients from our prospective registry. Pre-procedural CT data were analyzed (EnSite Verismo, SJM, MN) to determine the maximal sagittal (anterior–posterior, AP), coronal (superior-inferior, SI and transversal, TV) dimensions and the sphericity index (LAS). Volume (LAV) was rendered after appendage (LAA) and pulmonary vein (PV) exclusion. A cutting plane, between PV ostia/LAA and parallel to the posterior wall, divided LAV into anterior- (LAA) and posterior-LA (LAP) parts. The ratio LA-A/LAV was defined as asymmetry index (ASI). HCM patients had a wider inter-ventricular septum and a smaller LV than Non-HCM patients. LA volume (LAV 166 ± 72 vs. 130 ± 36 ml, p = 0.03) and LA diameters were significantly larger in HCM patients. Anterior volume (LA-A: 112 ± 48 vs. 83 ± 26 ml, p < 0.001) differed significantly between groups, whereas the posterior volume LA-P (55 ± 28 vs. 47 ± 13 ml, p = 0.23) and LAS (75% vs. 78%, p = 0.089) was similar in both groups. As a result, ASI was significantly higher (67 ± 6 vs. 63 ± 6%, p = 0.01) in HCM than in Non-HCM patients. In conclusion, LA remodeling in patients with AF and HCM is characterized by asymmetric dilatation, driven by an anterior rather than a posterior dilatation. This can be characterized by three-dimensional imaging and could be used as surrogate of advanced atrial remodeling.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Characteristics of left atrial remodeling in patients with atrial fibrillation and hypertrophic cardiomyopathy in comparison to patients without hypertrophy

Nedios

Dinov

Seewöster

et al. 2021

Sci Rep

View full text Add to dashboard Cite

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“…HCM is characterized predominantly by thickening of the left ventricle in the absence of another cause of hypertrophy and for which a disease-causing sarcomere (or sarcomererelated) variant is identified, or genetic etiology remains unresolved. Genetic testing identifies a pathogenic variant in up to 50% of cases [11].…”

Section: Hypertrophic Cardiomyopathymentioning

confidence: 99%

“…A clinical diagnosis of HCM in adult patients can therefore be established by imaging, with 2D echocardiography or cardiovascular magnetic resonance showing a maximal end-diastolic wall thickness of ≥15 mm anywhere in the left ventricle, in the absence of another cause of hypertrophy. More limited hypertrophy (13-14 mm) can be diagnosed when present in family members of a patient with HCM or in combination with a positive genetic test [11].…”

Section: Hypertrophic Cardiomyopathymentioning

confidence: 99%

Genetic Cardiomyopathies: The Lesson Learned from hiPSCs

Pasquale

2021

JCM

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Genetic cardiomyopathies represent a wide spectrum of inherited diseases and constitute an important cause of morbidity and mortality among young people, which can manifest with heart failure, arrhythmias, and/or sudden cardiac death. Multiple underlying genetic variants and molecular pathways have been discovered in recent years; however, assessing the pathogenicity of new variants often needs in-depth characterization in order to ascertain a causal role in the disease. The application of human induced pluripotent stem cells has greatly helped to advance our knowledge in this field and enabled to obtain numerous in vitro patient-specific cellular models useful to study the underlying molecular mechanisms and test new therapeutic strategies. A milestone in the research of genetically determined heart disease was the introduction of genomic technologies that provided unparalleled opportunities to explore the genetic architecture of cardiomyopathies, thanks to the generation of isogenic pairs. The aim of this review is to provide an overview of the main research that helped elucidate the pathophysiology of the most common genetic cardiomyopathies: hypertrophic, dilated, arrhythmogenic, and left ventricular noncompaction cardiomyopathies. A special focus is provided on the application of gene-editing techniques in understanding key disease characteristics and on the therapeutic approaches that have been tested.

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing

et al. 2022

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Key Points Question Does combined disease testing provide improved diagnostic yield and clinical utility for patients with a suspected genetic cardiomyopathy or arrhythmia? Findings In this cohort study of 4782 patients with a suspected genetic cardiomyopathy or arrhythmia, combined cardiomyopathy and arrhythmia testing revealed clinically relevant variants in 1 in 5 patients, and 66.0% of patients with positive findings had potential clinical management implications. The combined testing approach captured 10.9% of patients who would have been missed if genetic testing had been restricted to a specific suspected disease subtype. Meaning This study’s findings suggest that combined cardiomyopathy and arrhythmia genetic testing is able to identify genetic etiologies associated with these diseases that can inform patient management.

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

Cited by 447 publications

References 474 publications

Characteristics of left atrial remodeling in patients with atrial fibrillation and hypertrophic cardiomyopathy in comparison to patients without hypertrophy

Characteristics of left atrial remodeling in patients with atrial fibrillation and hypertrophic cardiomyopathy in comparison to patients without hypertrophy

Genetic Cardiomyopathies: The Lesson Learned from hiPSCs

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing

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