Novel therapies in inherited cardiomyopathies

Feria, Alejandro de; Owens, Anjali Tiku

doi:10.1016/j.ppedcard.2021.101444

Cited by 3 publications

(2 citation statements)

References 33 publications

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“…Non-dihydropyridine calcium channel blockers, β-blockers, and disopyramide all have different mechanisms of action, but their mutual negative inotropic effects improve diastolic filling time and reduce LVOTO, to alleviate symptoms [8]: despite this, none have impacted on prognoses or rates of sudden death [22]. Recently, studies have investigated the role of a new class of medication called cardiac myosin inhibitors (CMIs) (i.e., mavacamten and aficamten), and further trials are being undertaken [23][24][25][26][27][28].…”

Section: Pharmacologicalmentioning

confidence: 99%

Advances in Multi-Modality Imaging in Hypertrophic Cardiomyopathy

Goldie,

Lee,

Coats

et al. 2024

JCM

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Hypertrophic cardiomyopathy (HCM) is characterized by abnormal growth of the myocardium with myofilament disarray and myocardial hyper-contractility, leading to left ventricular hypertrophy and fibrosis. Where culprit genes are identified, they typically relate to cardiomyocyte sarcomere structure and function. Multi-modality imaging plays a crucial role in the diagnosis, monitoring, and risk stratification of HCM, as well as in screening those at risk. Following the recent publication of the first European Society of Cardiology (ESC) cardiomyopathy guidelines, we build on previous reviews and explore the roles of electrocardiography, echocardiography, cardiac magnetic resonance (CMR), cardiac computed tomography (CT), and nuclear imaging. We examine each modality’s strengths along with their limitations in turn, and discuss how they can be used in isolation, or in combination, to facilitate a personalized approach to patient care, as well as providing key information and robust safety and efficacy evidence within new areas of research.

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Section: Pharmacologicalmentioning

confidence: 99%

Advances in Multi-Modality Imaging in Hypertrophic Cardiomyopathy

Goldie,

Lee,

Coats

et al. 2024

JCM

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“…Carriers of LMNA variants should also consult with neuromuscular specialists, as certain variants are associated with skeletal myopathy and creatine kinase elevation [ 29 ]. Currently, there are no targeted drug therapies for LMNA-associated DCM [ 29 ], and recent clinical trials investigating a small molecule inhibitor of an MAPK pathway in treating LMNA-associated DCM have failed to improve functional capacity [ 30 ].…”

Section: Genetic Evaluation and Clinical Management Of Specific Cardi...mentioning

confidence: 99%

Genetic Evaluation and Screening in Cardiomyopathies: Opportunities and Challenges for Personalized Medicine

Aiyer

Kalutskaya

Agdamag

et al. 2023

JPM

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Cardiomyopathy is a major cause of heart failure caused by abnormalities of the heart muscles that make it harder for it to fill or eject blood. With technological advances, it is important for patients and families to understand that there are potential monogenic etiologies of cardiomyopathy. A multidisciplinary approach to clinical genetic screening for cardiomyopathies involving genetic counseling and clinical genetic testing is beneficial for patients and families. With early identification of inherited cardiomyopathy, patients can initiate guideline-directed medical therapies earlier, resulting in a greater likelihood of improving prognoses and health outcomes. Identifying impactful genetic variants will also allow for cascade testing to determine at-risk family members through clinical (phenotype) screening and risk stratification. Addressing genetic variants of uncertain significance and causative variants that may change in pathogenicity is also important to consider. This review will dive into the clinical genetic testing approaches for the various cardiomyopathies, the significance of early detection and treatment, the value of family screening, the personalized treatment process associated with genetic evaluation, and current strategies for clinical genetic testing outreach.

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Approaches to Genetic Screening in Cardiomyopathies

Kontorovich¹

2023

JACC: Heart Failure

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Novel therapies in inherited cardiomyopathies

Cited by 3 publications

References 33 publications

Advances in Multi-Modality Imaging in Hypertrophic Cardiomyopathy

Advances in Multi-Modality Imaging in Hypertrophic Cardiomyopathy

Genetic Evaluation and Screening in Cardiomyopathies: Opportunities and Challenges for Personalized Medicine

Approaches to Genetic Screening in Cardiomyopathies

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