Table of Contents
Part 1: Dilated Cardiomyopathy
Part 2: Hypertrophic Cardiomyopathy
Part 3: Restrictive Cardiomyopathy
Part 4: Arrhythmogenic Cardiomyopathy
Introduction
The diagnosis of hypertrophic cardiomyopathy (HCM) is based on the presence of unexplained left ventricular hypertrophy (LVH), independent of load conditions.
The most frequent cause of HCM is sarcomeric HCM (40-60% of HCM cases), an autosomal dominant disease with late penetrance and variable expression. In 5-10% of cases, HCM is caused by metabolic, neuromuscular diseases or by inherited genetic syndromes.
Sarcomeric MH is the most common genetic heart disease, affecting at least one in 500 adults (0.2%). In most cases the disease is benign and asymptomatic, and only a minority of patients have clinical manifestations.
In the natural history of HCM, patients may present as i) mutation carriers (genotype positive without a phenotype); ii) early, non-hypertrophic phenotype (discrete morphological and functional changes without LVH); iii) classical phenotype; iv) adverse remodelling; and v) overt dysfunction (hypokinetic and restrictive types).
Symptomatic patients may exhibit one or more clinical profiles: complex ventricular arrhythmias-sudden cardiac death profile; intraventricular obstruction profile; heart failure with preserved ejection fraction profile (non-obstructive types); atrial fibrillation/stroke profile; and heart failure with reduded ejection fraction profile.
Most symptomatic patients are managed with medical treatment, but a small percentage have serious clinical problems and an adverse prognosis. In obstructive cases refractory to medical treatment septal reduction therapy (surgery or alcohol septal ablation) may be indicated.
Genetic test of index patient is important for family screening of the disease in relatives.
As clinical assessment is difficult in HCM, imaging plays a pivotal role in the evaluation of HCM patients, offering answers to clinical questions. Imaging techniques provide a broad spectrum of information, including morphological data, functional data, and ischaemia assessment, useful in many clinical settings of HCM (Table1). A multimodality imaging approach (including echocardiograghy, cardiac magnetic resonance, cardiac CT and nuclear imaging techniques) is encouraged; each technique must be selected to provide solutions to the specific problems, avoiding duplicated data and taking into account its technical characteristics, availability, benefits, risks, and costs.
Presentations
- Echocardiography - General
- Stress Echocardiography
- Cardiovascular Magnetic Resonance
- Nuclear Cardiology
- Multi-Modality Imaging
References and resources
Webinars
Specific access rules may apply
- How the new ESC Guidelines on cardiomyopathies will change my practice?
ESC webinar
Wednesday 26 November 2014
Speaker: Perry Elliott (UK)
Moderator: Giuseppe Limongelli (IT)
Part 1: Diagnosis and management of hypertrophic cardiomyopathy Part 2: Prevention of Complications - Hypertrophic Cardiomyopathy
EACVI webinar
Monday 18 April 2016 from 18:00 to 19:00 CEST
Topic(s): Myocardial Disease Imaging Clinical
Speaker: Dr Ruxandra Jurcut; Dr Monica Rosca
Host: Professor Bogdan A. Popescu - Differential diagnosis in hypertrophic cardiomyopathy and lysosomal Storage Diseases (LSD)
Webinar from the ESC Working Group on Myocardial and Pericardial Diseases
Friday 02 June 2017 from 18:00 to 19:00 CEST
Speakers: Professor Perry Elliott, FESC Professor Michael Arad, FESC
Host & Speaker: Professor Aleš Linhart, FESC - ESC Webinars Series - Sports Cardiology
Dr. Michail Papadakis, Assoc. Prof. Matthias Wilhelm and Prof. Sanjay Sharma
Tuesday 27 October 2020 from 18:00 to 19:00 CET
Topic(s): European Society of Cardiology Risk Factors, Prevention, Rehabilitation, Sports Cardiology Rehabilitation and Sports Cardiology
EACVI Tutorials
EACVI TTE e-learning course - 22 - How to assess cardiomyopathies?
Authors(s): Nuno Cardim, Portugal
Last Updated: 05/03/2018
Congress resources from the ESC 365 Gallery
Specific access rules may apply
References, guidelines and position statements
- Elliott P, Anastasakis A, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy. Eur Heart J. 2014; 35, 2733–2779.
- Cardim N, Galderisi M, et al. Role of multimodality cardiac imaging in the management of patients with hypertrophic cardiomyopathy: an expert consensus of the european association of cardiovascular imaging endorsed by the saudi heart association. EUR Heart J Cardiovasc Imaging. 2015
- Weissler-Snir A, Arnon Adler A, et al.Prevention of sudden death in hypertrophic cardiomyopathy: bridging the gaps in knowledge, European Heart Journal, Volume 38, Issue 22, 7 June 2017, Pages 1728–1737
- Pelliccia A, Caselli S, et al.European Association of Preventive Cardiology (EAPC) and European Association of Cardiovascular Imaging (EACVI) joint position statement: recommendations for the indication and interpretation of cardiovascular imaging in the evaluation of the athlete's heart.Eur Heart J. 2018 Jun 1;39(21):1949-1969. doi: 10.1093/eurheartj/ehx532.
- Pelliccia A, Solberg E, et al .Recommendations for participation in competitive and leisure time sport in athletes with cardiomyopathies, myocarditis, and pericarditis: position statement of the Sport Cardiology Section of the European Association of Preventive Cardiology (EAPC). Eur Heart J. 2019 Jan 1;40(1):19-33. doi: 10.1093/eurheartj/ehy730