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Updated: May 13, 2025
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
[ANMCO Position paper: Hypertrophic cardiomyopathy: from diagnosis to treatment]
Cristina Chimenti1, Attilio Iacovoni2, Andrea Montalto3
1U.O.C. Malattie Apparato Cardiovascolare, AOU Policlinico Umberto I, Dipartimento di Scienze Cliniche, Internistiche, Anestesiologiche e Cardiovascolari, Sapienza Università di Roma, Roma.
Insights
Hypertrophic cardiomyopathy (HCM) is a genetic heart condition affecting 1:500 people. New myosin-inhibiting drugs offer novel treatment options for obstructive HCM, improving patient care.
Area of Science:
- Cardiology
- Genetics
- Pharmacology
Background:
- Hypertrophic cardiomyopathy (HCM) is a prevalent genetic heart disease (1:500) marked by increased left ventricular wall thickness.
- Left ventricular outflow tract obstruction in HCM is a key factor in reduced function, sudden cardiac death, and heart failure progression.
- Limited therapeutic options existed for symptomatic obstructive HCM patients refractory to standard medications and septal reduction therapies.
Purpose of the Study:
- To enhance cardiologists' understanding of hypertrophic cardiomyopathy (HCM).
- To define epidemiological, genetic, and pathological features of HCM.
- To outline diagnostic criteria and risk stratification methods for personalized HCM therapy.
Main Methods:
- Review of current literature on hypertrophic cardiomyopathy (HCM) epidemiology, genetics, and pathology.
- Analysis of diagnostic criteria and instrumental methods for risk stratification.
- Evaluation of emerging therapeutic strategies, including novel drug classes.
Main Results:
- HCM is characterized by asymmetric septal hypertrophy, often leading to left ventricular outflow tract obstruction.
- Obstructive HCM significantly impacts functional capacity and prognosis.
- A new class of cardiac myosin inhibitors represents a significant advancement in HCM treatment.
Conclusions:
- Accurate clinical-therapeutic classification is crucial for optimal HCM management.
- New therapeutic avenues, particularly myosin inhibitors, are transforming obstructive HCM care.
- This position paper aims to guide cardiologists in tailoring treatments for individual HCM patients.
Abstract:
Hypertrophic cardiomyopathy (HCM) is a non-rare genetic cardiomyopathy, with an estimated prevalence of 1:500, characterized by an increase in the left ventricular wall thickness in absence of increased loading conditions. The hypertrophy is mostly asymmetric and predominantly affects the basal septum and anterior wall. Left ventricular outflow tract obstruction, at rest or after provocative tests, is detected in many patients and represents the primary cause of reduced functional capacity, as well as an independent predictor of sudden cardiac death and advanced heart failure. Until about 1 year ago, symptomatic patients despite maximal therapy with beta-blockers or calcium channel blockers, with or without disopyramide, had only basal septal reduction therapy via myectomy or alcohol septal ablation as additional therapeutic options. Today, a new class of drugs that inhibit cardiac myosin activity is available for patients with obstructive HCM.In light of the new treatment perspectives, the correct clinical-therapeutic classification of affected patients becomes of fundamental importance for the cardiologist. The aim of this position paper is to increase the knowledge of cardiologists in the field of HCM, defining its epidemiological, genetic and pathological characteristics, identifying the diagnostic criteria and instrumental methods capable of stratifying the risk profile, with the aim of an optimal therapy tailored on the single patient.
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