Medical treatment of patients with hypertrophic cardiomyopathy: An overview of current and emerging therapy

Iavarone, Michele; Monda, Emanuele; Vritz, Olga; Albert, Dimpna C.; Rubino, Marta; Verrillo, Federica; Caiazza, Martina; Lioncino, Michele; Amodio, Federica; Guarnaccia, Natale; Gragnano, Felice; Lombardi, Raffaella; Esposito, Giovanni; Bossone, Eduardo; Calabrò, Paolo; Losi, Maria Angela; Limongelli, Giuseppe

doi:10.1016/j.acvd.2022.06.003

Cited by 16 publications

(13 citation statements)

References 72 publications

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Section: Discussionmentioning

confidence: 99%

“…Particularly, mavacamten and aficamten, novel allosteric inhibitors of cardiac myosin ATPase, have been demonstrated to be effective in patients with obstructive sarcomeric HCM. 23,24 However, its potential use in RASopathies is still debated because the destabilization of the myosin interacting head motifs does not appear to contribute to the pathophysiology of HCM associated with RASopathies. 25 Due to the relevance of the signaling upregulation through the RAS-MAPK pathway in the context of oncogenesis, RAS-MAPK inhibitors have been demonstrated to be efficacious in various subtypes of cancers.…”

Section: Discussionmentioning

confidence: 99%

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Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines

Monda

Prosnitz

Aiello

et al. 2023

Circ: Genomic and Precision Medicine

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BACKGROUND: We aimed to examine clinical features, and outcomes of consecutive molecularly characterized patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy. METHODS: A retrospective, longitudinal multicenter cohort of consecutive children and adults with a genetic diagnosis of Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy between 2002 and 2019 was assembled. We defined a priori 3 different patterns of left ventricular remodeling during follow-up: (1) an increase in ≥15% of the maximal left ventricular wall thickness (MLVWT), both in mm and z -score (progression); (2) a reduction ≥15% of the MLVWT, both in mm and z -score (absolute regression); (3) a reduction ≥15% of the MLVWT z -score with a stable MLVWT in mm (relative regression). The primary study end point was a composite of cardiovascular death, heart transplantation, and appropriate implantable cardioverter defibrillator-shock. RESULTS: The cohort comprised 42 patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy, with a median age at diagnosis of 3.5 (interquartile range, 0.2–12.3) years. Freedom from primary end point was 92.7% (95% CI, 84.7%–100%) 1 year after presentation and 80.9% (95% CI, 70.1%–90.7%) at 5 years. Patients with MLVWT z -score >13.7 showed reduced survival compared with those with <13.7. During a median follow-up of 3.7 years (interquartile range, 2.6–7.9), absolute regression was the most common type of left ventricular remodeling (n=9, 31%), followed by progression (n=6, 21%), and relative regression (n=6, 21%). CONCLUSIONS: These findings provide insights into the natural history of left ventricular hypertrophy, and can help inform clinicians regarding risk stratification and clinical outcomes in patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines

Monda

Prosnitz

Aiello

et al. 2023

Circ: Genomic and Precision Medicine

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“…Episodes may be suppressed with the use of antiarrhythmic drugs or catheter ablation. 72 Anticoagulation with either warfarin or a direct oral-acting anticoagulant for the prevention of thromboembolism should be strongly considered in anyone with HCM and atrial fibrillation independent of their CHA 2 DS 2- VASc score. 6 …”

Section: Managementmentioning

confidence: 99%

“…6 Gene Therapy for Hypertrophic Cardiomyopathy Gene therapy is an emerging strategy that seeks to directly address the underlying genetic causes of HCM. 72,73 The various strategies being taken have been extensively reviewed elsewhere. 74 Strategies currently being explored include gene replacement with adeno-associated viral vectors, gene editing, allele-specific silencing, trans-splicing, and exon skipping.…”

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confidence: 99%

Familial Hypertrophic Cardiomyopathy: Diagnosis and Management

Litt¹,

Ali²,

Reza³

2023

VHRM

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Hypertrophic cardiomyopathy (HCM) is widely recognized as one of the most common inheritable cardiac disorders. Since its initial description over 60 years ago, advances in multimodality imaging and translational genetics have revolutionized our understanding of the disorder. The diagnosis and management of patients with HCM are optimized with a multidisciplinary approach. This, along with increased safety and efficacy of medical, percutaneous, and surgical therapies for HCM, has afforded more personalized care and improved outcomes for this patient population. In this review, we will discuss our modern understanding of the molecular pathophysiology that underlies HCM. We will describe the range of clinical presentations and discuss the role of genetic testing in diagnosis. Finally, we will summarize management strategies for the hemodynamic subtypes of HCM with specific emphasis on the rationale and evidence for the use of implantable cardioverter defibrillators, septal reduction therapy, and cardiac myosin inhibitors.

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“…Nonetheless, the identification of a pathogenic mutation may help the cardiologist make tailored therapeutic choices and distinguish rare mimics such as Fabry disease, Danon disease, amyloidosis caused by TTR mutation, or atypical glycogenosis due to mutations in the PRKAG2 gene. Emerging, targeted therapies, including gene therapy for HCM patients, are now opening new perspectives [ 24 , 34 , 35 , 36 , 37 , 38 ].…”

Section: Patients’ Questions Real-world Answersmentioning

confidence: 99%

Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions

Girolami

Gozzini

Ballerini

et al. 2023

JCM

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Genetic counselling and genetic testing in hypertrophic cardiomyopathy (HCM) represent an integral part of the diagnostic algorithm to confirm the diagnosis, distinguish it from phenocopies, and suggest tailored therapeutic intervention strategies. Additionally, they enable cascade genetic testing in the family. With the implementation of Next Generation Sequencing technologies (NGS), the interpretation of genetic data has become more complex. In this regard, cardiologists play a central role, aiding geneticists to correctly evaluate the pathogenicity of the identified genetic alterations. In the ideal setting, geneticists and cardiologists must work side by side to diagnose HCM as well as convey the correct information to patients in response to their many questions and concerns. After a brief overview of the role of genetics in the diagnosis of HCM, we present and discuss the frequently asked questions by HCM patients throughout our 20-year genetic counselling experience. Appropriate communication between the team and the families is key to the goal of delivering the full potential of genetic testing to our patients.

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Medical treatment of patients with hypertrophic cardiomyopathy: An overview of current and emerging therapy

Cited by 16 publications

References 72 publications

Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines

Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines

Familial Hypertrophic Cardiomyopathy: Diagnosis and Management

Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions

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