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Hypertrophic Cardiomyopathy: Phenotypes and Phenocopies
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Hypertrophic Cardiomyopathy: Phenotypes and Phenocopies

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Cardiology".

Deadline for manuscript submissions: closed (15 March 2022) | Viewed by 30044

Special Issue Editor

Dr. Giovanni La Canna

E-Mail Website
Guest Editor
Applied Diagnostic Echocardiography Unit, IRCCS Humanitas Clinical and Research Center, 20089 Rozzano, Italy
Interests: echocardiography; valvular heart disease; hypertrophic cardiomyopathy; mitral valve prolapse; endocarditis; post-radiation heart disease
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Hypertrophic Cardiomyopathy (HCM) is a sarcomeric genetic disease with a wide pathophysiological spectrum and clinical course. HCM diagnosis is based on recognition of an unexplained myocardial hypertrophic phenotype using echocardiography or magnetic resonance. A clinically focused work-up is crucial to detect other cardiac, systemic, metabolic, endocrine, or syndromic diseases mimicking the hypertrophic phenotype (“hypertrophic phenocopies”, e.g., amyloidosis, Fabry disease), requiring different management and potentially resolutive therapy. Owing to the progress in multimodality imaging, we have gained new insight into the structural and functional features beyond myocardial hypertrophy (mitral valve abnormalities, microvessel coronary artery disease, myocardial fibrosis, left ventricular apical aneurysm, myocardial bridges, myocardial crypts), which can categorize heterogeneous HCM clinical phenotypes or isolated sub-clinical pictures. Some findings are unexplained by sarcomeric mutation models, and many questions remain unanswered about genotype–phenotype correlation and triggers responsible for the varying phenotype penetrance.

Left ventricular obstruction is a common cause of symptoms subtending varying and fluctuating pathophysiological mechanisms which can be elicited by load changes and pharmacological or physical stressors. In patients unresponsive to medical therapy, a phenotype-tailored non-pharmacological approach can be considered, including surgical therapy (myectomy, mitral-valve surgery), or percutaneous interventions (septal alcoholization, edge-to-edge repair).

The left atrium is an emergent research target in HCM, addressing chamber hemodynamic burden, myopathy, and arrhythmogenic substrate risk.

The stratification risk for sudden death is paramount, requiring a multiparametric individualized approach to identify the appropriate candidate for ICD implantation.

Genetic counseling, lifestyle recommendations, sport idoneity, pregnancy, assisted procreative program, anesthesiology, non-cardiac surgery or laparoscopic procedures are challenging in HCM.

Finally, a subset of patients may evolve toward a burden-out phenotype subtending an adverse clinical course and the need for advanced therapies for congestive heart failure.

This Special Issue of the Journal of Clinical Medicine will cover the abovementioned HCM issues, accepting both state-of-the-art review articles and original research papers.

Dr. Giovanni La Canna
Guest Editor

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • multimodality imaging
  • hypertrophic cardiomyopathy phenotypes
  • hypertrophic cardiomyopathy phenocopies
  • left ventricular obstruction
  • left atrium
  • mitral valve apparatus
  • genetic
  • sudden death
  • medical treatment
  • non-pharmacological therapies

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Published Papers (8 papers)

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Research

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16 pages, 2693 KiB  
Article
Targeting Alcohol Septal Ablation in Patients with Obstructive Hypertrophic Cardiomyopathy Candidates for Surgical Myectomy: Added Value of Three-Dimensional Intracoronary Myocardial Contrast Echocardiography
by Giovanni La Canna, Iside Scarfò, Irina Arendar, Antonio Colombo, Lucia Torracca, Davide Margonato, Matteo Montorfano and Ottavio Alfieri
J. Clin. Med. 2021, 10(10), 2166; https://doi.org/10.3390/jcm10102166 - 17 May 2021
Cited by 7 | Viewed by 2894
Abstract
Background: Myocardial contrast two-dimensional echocardiography (MC-2DE) is widely used to address alcohol septal ablation (ASA) in obstructive hypertrophic cardiomyopathy (HCM). Owing to its limited cut-planes, MC-2DE may inaccurately identify the contrast misplacement associated with an unsuccessful or complicated ASA outcome. Objective: The aim [...] Read more.
Background: Myocardial contrast two-dimensional echocardiography (MC-2DE) is widely used to address alcohol septal ablation (ASA) in obstructive hypertrophic cardiomyopathy (HCM). Owing to its limited cut-planes, MC-2DE may inaccurately identify the contrast misplacement associated with an unsuccessful or complicated ASA outcome. Objective: The aim of this study was to assess the added value of myocardial contrast three-dimensional echocardiography (MC-3DE) compared with MC-2DE to identify the appropriate matching between the target septal zone (TSZ) and coronary artery branch for safe and long-term effective ASA in HCM patients. Methods: A consecutive series of 52 symptomatic obstructive HCM patients referred for isolated surgical myectomy (SM) was analyzed with MC-2DE and MC-3DE following injection of echocontrast into one or more septal branches. MC-2DE and MC-3DE patterns were categorized according to complete (Type 1) or incomplete (Type 2) TSZ covering, high-risk (Type 3) exceeding TSZ, or life-threatening outside TSZ distribution (Type 4). Results: MC-2DE per patient analysis showed a Type 1 pattern in 32 patients and Types 2–4 in the remaining 20 patients; subsequent MC-3DE analysis provided a re-phenotyping of MC-2DE findings in 22 of the 52 patients (42%), showing a high-risk Type 2 pattern in 17 of the 32 patients with Type 1, and a new life-threatening Type 4 in three patients with Type 2, respectively. All patients with MC-3DE Type 1 pattern underwent safe and effective ASA with a long-term uneventful follow-up, while the remaining patients underwent SM. Conclusions: Refining high risk or life-threatening contrast misplacement, MC-3DE is more accurate than conventional MC-2DE to target safe and long-term effective septal reduction with ASA in obstructive HCM patients referred for isolated SM. Full article
(This article belongs to the Special Issue Hypertrophic Cardiomyopathy: Phenotypes and Phenocopies)
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15 pages, 1309 KiB  
Article
The Indices of Cardiovascular Magnetic Resonance Derived Atrial Dynamics May Improve the Contemporary Risk Stratification Algorithms in Children with Hypertrophic Cardiomyopathy
by Lidia Ziółkowska, Łukasz Mazurkiewicz, Joanna Petryka, Monika Kowalczyk-Domagała, Agnieszka Boruc, Katarzyna Bieganowska, Elżbieta Ciara, Dorota Piekutowska-Abramczuk, Mateusz Śpiewak, Jolanta Miśko, Magdalena Marczak and Grażyna Brzezińska-Rajszys
J. Clin. Med. 2021, 10(4), 650; https://doi.org/10.3390/jcm10040650 - 8 Feb 2021
Cited by 4 | Viewed by 2154
Abstract
Introduction: The most efficient risk stratification algorithms are expected to deliver robust and indefectible identification of high-risk children with hypertrophic cardiomyopathy (HCM). Here we compare algorithms for risk stratification in primary prevention in HCM children and investigate whether novel indices of biatrial performance [...] Read more.
Introduction: The most efficient risk stratification algorithms are expected to deliver robust and indefectible identification of high-risk children with hypertrophic cardiomyopathy (HCM). Here we compare algorithms for risk stratification in primary prevention in HCM children and investigate whether novel indices of biatrial performance improve these algorithms. Methods and Results: The endpoints were defined as sudden cardiac death, resuscitated cardiac arrest, or appropriate implantable cardioverter-defibrillator discharge. We examined the prognostic utility of classic American College of Cardiology/American Heart Association (ACC/AHA) risk factors, the novel HCM Risk-Kids score and the combination of these with indices of biatrial dynamics. The study consisted of 55 HCM children (mean age 12.5 ± 4.6 years, 69.1% males); seven had endpoints (four deaths, three appropriate ICD discharges). A strong trend (DeLong p = 0.08) was observed towards better endpoint identification performance of the HCM Risk-Kids Model compared to the ACC/AHA strategy. Adding the atrial conduit function component significantly improved the prediction capabilities of the AHA/ACC Model (DeLong p = 0.01) and HCM Risk-Kids algorithm (DeLong p = 0.04). Conclusions: The new HCM Risk-Kids individualised algorithm and score was capable of identifying high-risk children with very good accuracy. The inclusion of one of the atrial dynamic indices improved both risk stratification strategies. Full article
(This article belongs to the Special Issue Hypertrophic Cardiomyopathy: Phenotypes and Phenocopies)
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12 pages, 5923 KiB  
Article
Small Vessel Disease: Another Component of the Hypertrophic Cardiomyopathy Phenotype Not Necessarily Associated with Fibrosis
by Monica De Gaspari, Cristina Basso, Martina Perazzolo Marra, Stefania Elia, Maria Bueno Marinas, Annalisa Angelini, Gaetano Thiene and Stefania Rizzo
J. Clin. Med. 2021, 10(4), 575; https://doi.org/10.3390/jcm10040575 - 4 Feb 2021
Cited by 13 | Viewed by 2884
Abstract
Background: Hypertrophic cardiomyopathy (HCM) is characterized by myocardial disarray, small vessel disease (SVD), and fibrosis. The relationship between SVD and replacement-type fibrosis is still unclear. Methods: Histopathologic assessment of replacement-type fibrosis and SVD in HCM patients with either end-stage heart failure (HF) or [...] Read more.
Background: Hypertrophic cardiomyopathy (HCM) is characterized by myocardial disarray, small vessel disease (SVD), and fibrosis. The relationship between SVD and replacement-type fibrosis is still unclear. Methods: Histopathologic assessment of replacement-type fibrosis and SVD in HCM patients with either end-stage heart failure (HF) or sudden cardiac death (SCD). Chronic ischemic heart disease (IHD) patients served as controls. Results: Forty HCM hearts, 10 HF and 30 SCD, were studied. Replacement-type fibrosis was detected in all HF and in 57% of SCD cases. In SCD, replacement-type fibrosis was associated with older age, greater septal thickness, SVD prevalence, and score (all p < 0.05). Prevalence of SVD did not show significant differences among SCD, HF, and IHD (73%, 100% and 95%, respectively), while SVD score was higher in HF than IHD and SCD (2.4, 1.95, and 1.18, respectively) and in areas with replacement-type fibrosis vs. those without in HF (3.4 vs. 1.4) and SCD (1.4 vs. 0.8) (all p < 0.05). Conclusions: SVD is a frequent feature in HCM independent of the clinical presentation. A higher SVD score is observed in HCM-HF and in areas with replacement-type fibrosis. Although SVD is part of the HCM phenotype, further remodeling of the microcirculation might occur secondarily to fibrosis. Full article
(This article belongs to the Special Issue Hypertrophic Cardiomyopathy: Phenotypes and Phenocopies)
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Review

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10 pages, 1452 KiB  
Review
Dynamic Left Intraventricular Obstruction Phenotype in Takotsubo Syndrome
by Davide Di Vece, Angelo Silverio, Michele Bellino, Gennaro Galasso, Carmine Vecchione, Giovanni La Canna and Rodolfo Citro
J. Clin. Med. 2021, 10(15), 3235; https://doi.org/10.3390/jcm10153235 - 22 Jul 2021
Cited by 27 | Viewed by 3248
Abstract
Takotsubo syndrome (TTS) is characterized by acute, generally transient left ventricular (LV) dysfunction. Although TTS has been long regarded as a benign condition, recent evidence showed that rate of acute complications and in-hospital mortality is comparable to that of patients with acute coronary [...] Read more.
Takotsubo syndrome (TTS) is characterized by acute, generally transient left ventricular (LV) dysfunction. Although TTS has been long regarded as a benign condition, recent evidence showed that rate of acute complications and in-hospital mortality is comparable to that of patients with acute coronary syndrome. In particular, the prevalence of cardiogenic shock ranges between 6% and 20%. In this setting, detection of mechanisms leading to cardiogenic shock can be challenging. Besides a severely impaired systolic function, onset of LV outflow tract obstruction (LVOTO) together with mitral regurgitation related to systolic anterior motion of mitral valve leaflets can lead to hemodynamic instability. Early identification of LVOTO with echocardiography is crucial and has important implications on selection of the appropriate therapy. Application of short-acting b1-selective betablockers and prudent administration of fluids might help to resolve LVOTO. Conversely, inotrope agents may increase basal hypercontractility and worsen the intraventricular pressure gradient. To date, outcomes and management of patients with TTS complicated by LVOTO as yet has not been comprehensively investigated. Full article
(This article belongs to the Special Issue Hypertrophic Cardiomyopathy: Phenotypes and Phenocopies)
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13 pages, 1006 KiB  
Review
Tumoral Phenocopies of Hypertrophic Cardiomyopathy: The Role of Cardiac Magnetic Resonance
by Sara Bombace, Ilaria My, Marco Francone and Lorenzo Monti
J. Clin. Med. 2021, 10(8), 1683; https://doi.org/10.3390/jcm10081683 - 14 Apr 2021
Cited by 2 | Viewed by 2775
Abstract
Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disease that presents with cardiac hypertrophy. HCM phenocopies are clinical conditions that are phenotypically undistinguishable from HCM, but with a different underlying etiology. Cardiac tumors are rare entities that can sometimes mimic HCM in their echocardiographic [...] Read more.
Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disease that presents with cardiac hypertrophy. HCM phenocopies are clinical conditions that are phenotypically undistinguishable from HCM, but with a different underlying etiology. Cardiac tumors are rare entities that can sometimes mimic HCM in their echocardiographic appearance, thus representing an example of HCM phenocopy. At present, only case reports of tumoral HCM phenocopies can be found in literature. In this systematic review, we analyzed all the published cases in which a cardiac tumor mimicked HCM to the point of misleading the diagnosis, providing a structured overview of the currently available evidence on this topic. Full article
(This article belongs to the Special Issue Hypertrophic Cardiomyopathy: Phenotypes and Phenocopies)
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12 pages, 5349 KiB  
Review
Left Ventricular Remodeling in Hypertrophic Cardiomyopathy: An Overview of Current Knowledge
by Beatrice Musumeci, Giacomo Tini, Domitilla Russo, Matteo Sclafani, Francesco Cava, Alessandro Tropea, Carmen Adduci, Francesca Palano, Pietro Francia and Camillo Autore
J. Clin. Med. 2021, 10(8), 1547; https://doi.org/10.3390/jcm10081547 - 7 Apr 2021
Cited by 21 | Viewed by 3570
Abstract
While most patients with hypertrophic cardiomyopathy (HCM) show a relatively stable morphologic and clinical phenotype, in some others, progressive changes in the left ventricular (LV) wall thickness, cavity size, and function, defined, overall, as “LV remodeling”, may occur. The interplay of multiple pathophysiologic [...] Read more.
While most patients with hypertrophic cardiomyopathy (HCM) show a relatively stable morphologic and clinical phenotype, in some others, progressive changes in the left ventricular (LV) wall thickness, cavity size, and function, defined, overall, as “LV remodeling”, may occur. The interplay of multiple pathophysiologic mechanisms, from genetic background to myocardial ischemia and fibrosis, is implicated in this process. Different patterns of LV remodeling have been recognized and are associated with a specific impact on the clinical course and management of the disease. These findings underline the need for and the importance of serial multimodal clinical and instrumental evaluations to identify and further characterize the LV remodeling phenomenon. A more complete definition of the stages of the disease may present a chance to improve the management of HCM patients. Full article
(This article belongs to the Special Issue Hypertrophic Cardiomyopathy: Phenotypes and Phenocopies)
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14 pages, 936 KiB  
Review
Emerging Medical Treatment for Hypertrophic Cardiomyopathy
by Alessia Argirò, Mattia Zampieri, Martina Berteotti, Alberto Marchi, Luigi Tassetti, Chiara Zocchi, Luisa Iannone, Beatrice Bacchi, Francesco Cappelli, Pierluigi Stefàno, Niccolò Marchionni and Iacopo Olivotto
J. Clin. Med. 2021, 10(5), 951; https://doi.org/10.3390/jcm10050951 - 1 Mar 2021
Cited by 25 | Viewed by 6897
Abstract
Hypertrophic cardiomyopathy (HCM) is a common myocardial disease characterized by otherwise unexplained left ventricular hypertrophy. The main cause of disabling symptoms in patients with HCM is left ventricular outflow tract (LVOT) obstruction. This phenomenon is multifactorial, determined both by anatomical and functional abnormalities: [...] Read more.
Hypertrophic cardiomyopathy (HCM) is a common myocardial disease characterized by otherwise unexplained left ventricular hypertrophy. The main cause of disabling symptoms in patients with HCM is left ventricular outflow tract (LVOT) obstruction. This phenomenon is multifactorial, determined both by anatomical and functional abnormalities: myocardial hypercontractility is believed to represent one of its major determinants. The anatomical anomalies are targeted by surgical interventions, whereas attenuating hypercontractility is the objective of old and new drugs including the novel class of allosteric myosin inhibitors. This review summarizes the current treatment modalities and discusses the emerging therapeutical opportunities focusing on the recently developed cardiac myosin ATPase inhibitors Mavacamten and CK-274. Novel surgical and interventional approaches are also discussed. Full article
(This article belongs to the Special Issue Hypertrophic Cardiomyopathy: Phenotypes and Phenocopies)
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Other

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8 pages, 530 KiB  
Brief Report
State-of-the-Art Treatments for Atrial Fibrillation in Patients with Hypertrophic Cardiomyopathy
by Diego Penela, Antonio Sorgente and Riccardo Cappato
J. Clin. Med. 2021, 10(14), 3025; https://doi.org/10.3390/jcm10143025 - 7 Jul 2021
Cited by 7 | Viewed by 3416
Abstract
Atrial fibrillation (AF) and hypertrophic cardiomyopathy (HCM) are two very common clinical entities, which often occur simultaneously, giving a hard time to both patients and cardiologists. Myocyte hypertrophy, myocyte disarray and interstitial fibrosis in the left atrium (LA) predisposes to atrial arrhythmias due [...] Read more.
Atrial fibrillation (AF) and hypertrophic cardiomyopathy (HCM) are two very common clinical entities, which often occur simultaneously, giving a hard time to both patients and cardiologists. Myocyte hypertrophy, myocyte disarray and interstitial fibrosis in the left atrium (LA) predisposes to atrial arrhythmias due to modifications of the substrate that promote re-entry. AF is usually poorly tolerated due to the shortening of the diastolic time with rapid heart rates and the lack of the atrial contribution to the diastolic filling in patients who often have a previous diastolic dysfunction. AF onset frequently results in exercise intolerance and recurrent heart failure admissions and also has prognostic implications. Early maintenance of sinus rhythm appears as a worthy approach in these patients, especially when started early in the course of the disease. However, treatment with antiarrhythmic (AA) agents in HCM patients is less effective than in patients without the disease, and concerns regarding safety frequently limit the long-term adherence. Catheter ablation has limited efficacy in patients with persistent AF but can play an important role in patients with paroxysmal AF, emphasizing the importance of an accurate patient selection. The aim of this review is to provide an overview of the pathophysiology of combined HCM and AF and the principal pharmacological and non-pharmacological treatments recommended in this complex clinical scenario. Full article
(This article belongs to the Special Issue Hypertrophic Cardiomyopathy: Phenotypes and Phenocopies)
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