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ANMCO position paper 'Hypertrophic cardiomyopathy: from diagnosis to treatment'
Cristina Chimenti1, Attilio Iacovoni2, Andrea Montalto3
1UOC Malattie Apparato Cardiovascolare, AOU 'Policlinico Umberto I', Dipartimento di Scienze Cliniche, Internistiche, Anestesiologiche e Cardiovascolari, Sapienza Università di Roma, Viale del Policlinico, 155, Roma 00161, Italy.
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 classification and tailored therapy.
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 without external load.
- Left ventricular outflow tract obstruction in HCM significantly reduces functional capacity and predicts sudden cardiac death and heart failure progression.
Purpose of the Study:
- To enhance cardiologists' understanding of HCM, covering epidemiology, genetics, and pathology.
- To define diagnostic criteria and risk stratification methods for personalized HCM treatment.
- To introduce new therapeutic strategies, including novel myosin-inhibiting drugs.
Main Methods:
- Review of epidemiological, genetic, and pathological data on HCM.
- Analysis of diagnostic criteria and instrumental methods for risk stratification.
- Evaluation of current and emerging therapeutic options for obstructive HCM.
Main Results:
- HCM is characterized by asymmetric hypertrophy, often affecting the basal septum.
- Left ventricular outflow tract obstruction is a key complication impacting prognosis.
- New pharmacological treatments targeting cardiac myosin are now available for symptomatic obstructive HCM.
Conclusions:
- Accurate clinical-therapeutic classification is crucial for optimal HCM management.
- Emerging therapies offer new hope for patients with obstructive HCM.
- A comprehensive approach integrating diagnosis, risk stratification, and tailored therapy is essential for improving HCM patient outcomes.
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 the 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 ∼1 year ago, symptomatic patients despite maximal therapy with β-blockers or calcium channel blockers plus disopyramide had only basal septal reduction therapy through myectomy or septal alcoholization 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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