scholarly journals The Role of Cardiac MRI in the Diagnosis and Risk Stratification of Hypertrophic Cardiomyopathy

2016 ◽  
Vol 5 (3) ◽  
pp. 197 ◽  
Author(s):  
Ethan J Rowin ◽  
Martin S Maron ◽  
◽  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Sudden Death ◽  
Imaging Modality ◽  
Management Strategies ◽  
Phenotypic Expression ◽  
Left Ventricular ◽  
Contrast Enhanced ◽  
Increased Risk ◽  
Wide Range

Hypertrophic cardiomyopathy (HCM), the most common genetic cardiomyopathy, is a disease characterised by substantial heterogeneity. Although the majority of patients with HCM remain asymptomatic with near-normal longevity, a small, but important, subset remain at risk for a wide range of clinical outcomes including sudden death. Cardiovascular magnetic resonance (CMR), with its high spatial resolution and tomographic imaging capability, has emerged as an imaging modality particularly well suited to characterise the phenotypic expression of HCM. CMR helps in the diagnosis of HCM by identifying areas of hypertrophy not well visualised by echocardiography, providing more accurate wall thickness measurements and differentiating HCM from other causes of left ventricular (LV) hypertrophy. CMR has led to the identification of novel subgroups of patients with HCM, including those with LV apical aneurysms (a subgroup at increased risk for ventricular arrhythmias and thromboembolic stroke), as well as abnormalities that contribute to LV outflow obstruction. Additionally, contrast-enhanced CMR with late-gadolinium enhancement (LGE) has recognised patients with extensive LGE (≥15 % LV myocardium) as individuals who may be at increased risk of sudden death, independent of other high-risk features, with implications on management strategies including consideration for primary prevention implantable cardioverter defibrillator therapy. These observations justify an expanded role of CMR in the routine clinical assessment of patients with HCM.

Hypertrophic cardiomyopathy

2018 ◽  
pp. 243-252
Author(s):  
Carmen Chan ◽  
Martin S Maron
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Wall Thickness ◽  
Systolic Dysfunction ◽  
Management Strategies ◽  
Left Ventricular ◽  
Papillary Muscles ◽  
Common Cause ◽  
Contrast Enhanced ◽  
Increased Risk

Hypertrophic cardiomyopathy (HCM) is a genetic cardiomyopathy and the most common cause of sudden death in young people, as well as a cause of limiting heart failure symptoms at any age. Mutations in the cardiac sarcomere, the structural apparatus of the heart muscle, cause HCM and a diagnosis is made when maximal left ventricular (LV) wall thickness is ≥15 mm in the absence of another cause. Cardiovascular magnetic resonance (CMR) can reliably identify areas of increased LV wall thickness, as well as detailed characterization of myocardial structures such as the papillary muscles and mitral valve, with implications on management strategies. In addition, contrast-enhanced CMR with late gadolinium enhancement sequences (LGE) can identify areas of myocardial fibrosis/scarring in patients with HCM. Extensive LGE is an important marker for development of future systolic dysfunction and may identify patients at increased risk for ventricular tachyarrhythmias and cardiac mortality. As a result, CMR currently serves an important and evolving role in the evaluation of HCM patients by providing information with regard to diagnosis, morphology, and clinical course in HCM patients.

Abstract 13943: Hypertrophic Cardiomyopathy with Left Ventricular Apical Aneurysm Represents a High-Risk Subgroup Necessitating Aggressive Preventive Therapy: A Long-term Follow-Up Study

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Ethan J Rowin ◽  
Barry J Maron ◽  
Tammy S Haas ◽  
John R Lesser ◽  
Mark S Link ◽  
...  
Keyword(s):  
Heart Failure ◽  
Hypertrophic Cardiomyopathy ◽  
High Risk ◽  
Sudden Death ◽  
Left Ventricular ◽  
Increased Risk ◽  
Long Term Follow Up ◽  
Apical Aneurysm

Background: Increasing penetration of high spatial resolution cardiovascular magnetic resonance (CMR) imaging into routine cardiovascular practice has resulted in more frequent identification of a subset of hypertrophic cardiomyopathy (HCM) patients with thin-walled, scarred left ventricular (LV) apical aneurysms. Prior experience involved relatively small numbers of patients with short follow-up and therefore the risk associated with this subgroup remains incompletely defined. Therefore, we assembled a large HCM cohort with LV apical aneurysms and long-term follow-up in order to clarify clinical course and prognosis. Methods and Results: Of 2,400 HCM patients, 60 (2.5%) were identified by CMR with LV apical aneurysm, 24 to 86 years of age, including 19 (32%) <45 years old; 70% male, and followed for 5.6 ± 3.5 years. Over the follow-up period, 24 patients experienced 31 adverse disease-related complications including: appropriate implantable cardioverter-defibrillator discharge for VT/VF (n=11), received or listed for heart transplant (n=6), heart failure death (n=5), nonfatal thromboembolic events (n=4), resuscitated out-of-hospital cardiac arrest (n=3), and sudden death (n=2). In addition, an intracavitary thrombus was identified in the apical aneurysm in 9 patients without a thromboembolic history. Combined HCM-related death and aborted life threatening event rate was 8.6% per year, nearly 6-fold greater than the 1.5% annual mortality rate reported in the general HCM population. Conclusions: Patients with LV apical aneurysms represent a high-risk subgroup within the diverse HCM spectrum, associated with substantial increased risk for disease-related morbidity and mortality, including advanced heart failure, thromboembolic stroke and sudden death. Identification of this unique HCM phenotype should prompt consideration for primary prevention ICD, and anticoagulation for stroke prophylaxis.

Effect of hypokintic transformation on the clinical phenotype and functional capacity in hypertrophic cardiomyopathy

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
Y Wasserstrum ◽  
E Itelman ◽  
R Barriales-Villa ◽  
X Fernandez-Fernandez ◽  
Y Adler ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Nyha Class ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Ventricular Tachyarrhythmias ◽  
Ventricular Ejection Fraction ◽  
Icd Therapy ◽  
Medical Centers ◽  
Increased Risk

Abstract Background Advanced hypertrophic cardiomyopathy (HCM) may be complicated by a dilated hypokinetic transformation. Reduced left ventricular ejection fraction (HFrEF) has been described in terms of specific risks of morbidity and mortality, and specifically in terms of increased risk for fatal arrhythmias. Nevertheless, recent publications have casted doubt regarding the role of arrhythmia in non-ischemic HFrEF and questioned the role of primary prevention strategies in these cases. Methods We've reviewed clinical characteristics of 883 patients age ≥40, diagnosed with HCM who were evaluated in the cardiomyopathy clinic in two tertiary medical centers in Israel and Spain. Results Forty-five patients (5%) suffered from hypokinetic transformation. They were younger at diagnosis (median 32 [IQR 24–55] vs. 49 [35–60], p&lt;0.001), had a lower body-mass index (28.4 [±4.7] vs. 26.0 [±3.9], p&lt;0.001), and suffered more from strokes (19% vs 6%, p&lt;0.001). They had lower had a lower NYHA class (p=0.001) and lower exercise capacity (7.3 [4.5–10.8] vs. 9.6 [6.7–12.0] METS, p&lt;0.001). Patients with hypokinetic HCM had higher rates of pacemaker and implanted defibrillator (ICD) implantations (41% vs 11%, p&lt;0.001) and (43% vs 13%, p&lt;0.001) respectively. These patients had a higher incidence of sustained ventricular tachyarrhythmias (14% vs 2%, p&lt;0.001). Among patients who had an ICD, patients suffering from hypokinetic transformation had received more appropriate ICD therapy (27% vs 12%, p&lt;0.001). These patients received more heart transplantations (13% vs 1%, p&lt;0.001), and had a trend for higher incidence rate of Sudden cardiac death (6% vs 2% p=0.06) and a higher 5-year mortality rates (21% vs. 5%, p&lt;0.001). Conclusions HCM patients suffering from hypokinetic transformation have lower functional and exercise capacities, are more likely to suffer from ventricular tachyarrhythmias and experience appropriate ICD therapy, and undergo heart transplantation. They also have a significantly lower 5-year survival. Five-year survival Funding Acknowledgement Type of funding source: None

Abstract 4683: Risk Stratification in Hypertrophic Cardiomyopathy: Evidence that Syncope is a Marker for Sudden Death

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Paolo Spirito ◽  
Camillo Autore ◽  
Claudio Rapezzi ◽  
Paola Bernabo ◽  
Robert Badagliacca ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Sudden Death ◽  
Risk Stratification ◽  
Age Groups ◽  
Left Ventricular ◽  
Adult Patients ◽  
Patient Evaluation ◽  
Death Risk ◽  
Increased Risk ◽  
Unexplained Syncope

Risk stratification and identification of those patients with hypertrophic cardiomyopathy (HCM) at the highest risk for sudden death is a major issue for patient management, given the effective option of the implantable defibrillator in this disease. For example, the prognostic significance of syncope has not been investigated systematically in large HCM cohorts, and therefore treatment strategies related to this symptom have been based largely on intuition and experience. We assessed the relationship between syncope and sudden death in 1511 consecutive HCM patients. Unexplained (n=153) or neurally-mediated (n=52) syncope occurred in 205 (14%) of patients. Over a 5.6±5.2 year follow-up, 74 patients died suddenly. Relative risk of sudden death was 1.78 (95% CI 0.88 –3.51; p=0.08) in patients with unexplained syncope, and 0.91 (95% CI 0.00 –3.83; p=1.0) in those with neurally-mediated syncope, compared to patients without syncope. However, the time interval between unexplained syncope and initial patient evaluation proved to have a strong impact on sudden death risk. Patients with recent syncope (≤6 months from initial evaluation) showed a 5-fold increase in risk compared to patients without syncope (adjusted HR=4.89; CI 2.19 –10.94; p=0.006), a relationship maintained throughout all age groups (<18, 18 –39 and ≥40 years). Conversely, adult patients (18 –39 and ≥40 years) with remote syncope (>6 months from evaluation) showed no increase in sudden death rate (4.8; 95% CI 0.1–26.7 and 3.2; 95% CI 0.1–17.8 per 1000 person-years, respectively), compared to patients of similar age without syncope (11.8; 95% CI 7.6 –17.6 and 5.7%; 95% CI 3.8 – 8.3 per 1000 person-years). Left ventricular outflow obstruction was not associated with sudden death risk (p=0.29). In this large HCM cohort, unexplained syncope proved to be a risk factor for sudden death. In addition, the temporal proximity of syncopal events to patient evaluation is of clinical relevance. Recent unexplained syncope is associated with an increased risk for sudden death in all age groups, while remote syncopal events do not convey increased risk to adult patients.

Abstract 15391: The Natural History of Asymptomatic and Mildly Symptomatic Obstructive Hypertrophic Cardiomyopathy: Insights From the Share Registry

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Monica Ahluwalia ◽  
Larry Han ◽  
iacopo olivotto ◽  
Euan A Ashley ◽  
Michelle Michels ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Natural History ◽  
Management Strategies ◽  
Composite Endpoint ◽  
Ventricular Outflow Tract ◽  
Left Ventricular ◽  
Increased Risk ◽  
Obstructive Hypertrophic Cardiomyopathy ◽  
Left Ventricular Outflow ◽  
History Of

Background: Contemporary studies are needed to determine the natural history of asymptomatic and mildly symptomatic patients with obstructive hypertrophic cardiomyopathy (oHCM). Methods: Patients with HCM, peak left ventricular outflow tract (LVOT) gradient ≥30 mm Hg (at rest, post-Valsalva, or exercise) and baseline NYHA I-II symptoms were identified using the multicenter Sarcomeric Human Cardiomyopathy Registry (SHaRe). Patients with prior atrial fibrillation (AF) or septal reduction therapies (SRT) were excluded. Incident outcomes, including the composite of NYHA III-IV symptoms, AF or SRT, were related to LVOT using Kaplan-Meier analysis (LVOT tertiles) and Cox proportion hazard models, controlling for age, sex, race, proband status, sarcomere status, hypertension and left atrial diameter. Results: At baseline, the 1048 patients who met inclusion criteria were 52.0 ± 16.1 yrs, 48.9% female, 34.9% sarcomere mutation +, with mean LVOT gradient 72 ± 39mm Hg. Over 8.6 years follow up (IQR 2.3, 13.6), progression to the composite endpoint ocurred in 530 (50.6%) and 92 (8.8%) died. Patients in the highest tertile of LVOT gradient (>84 mm Hg) were at increased risk of the composite endpoint (Figure). Every 10 mm Hg increase in LVOT gradient was associated with increased risk of incident NYHA III-IV HF (HR 1.04, 95% CI 1.00, 1.08, p=0.04), SRT (HR 1.07, 95% CI 1.04, 1.09, p<0.001) and the composite endpoint (HR 1.03, 95% CI 1.01, 1.06, p=0.003), but not incident AF (HR 1.02, p=0.39) or death (HR 0.99, p=0.3). Older age (HR 1.01, 95% CI 1.00-1.03, p=0.03), black race (HR 1.73, 95% CI 1.11-2.69, p=0.02) and sarcomere mutations (HR 1.27, 95% CI 1.02-1.59, p=0.03) were also associated with increased risk of the composite endpoint. Conclusions: In oHCM patients with NYHA I-II symptoms, the LVOT gradient appears to predict worsening symptoms and need for SRT, but not AF or overall survival. These findings have implications for refining management strategies for oHCM.

Advanced imaging for risk stratification of sudden death in hypertrophic cardiomyopathy

Heart ◽  
2020 ◽  
Vol 106 (11) ◽  
pp. 793-801 ◽  
Author(s):  
Jay Ramchand ◽  
Agostina M Fava ◽  
Michael Chetrit ◽  
Milind Y Desai
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Risk Stratification ◽  
Ventricular Arrhythmias ◽  
Left Ventricular ◽  
Small Subset ◽  
Imaging Features ◽  
Icd Implantation ◽  
Increased Risk ◽  
Cardiac Condition

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac condition, which typically manifests as left ventricular hypertrophy. A small subset of patients with HCM have an increased risk of sudden cardiac death (SCD) from ventricular arrhythmias. Risk of SCD can be effectively reduced following implantation of implantable cardiac defibrillators (ICD), although this treatment carries a risk of complications such as inappropriate shocks. With this in mind, we turn to advances in cardiac imaging to guide risk stratification for SCD and to select the appropriate individual who may benefit from ICD implantation. In this review, we have taken the opportunity to briefly summarise the role of imaging in the diagnosis of HCM before focusing on how specific imaging features influence risk of SCD in patients with HCM.

scholarly journals Outcomes and phenotypic expression of rare variants in hypertrophic cardiomyopathy genes amongst UK Biobank participants

2021 ◽  
Author(s):  
Antonio de Marvao ◽  
Kathryn A McGurk ◽  
Sean L Zheng ◽  
Marjola Thanaj ◽  
Wenjia Bai ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
General Population ◽  
Wall Thickness ◽  
Rare Variants ◽  
Phenotypic Expression ◽  
Left Ventricular ◽  
Uk Biobank ◽  
Risk Of Death ◽  
Increased Risk ◽  
Encoding Genes

AbstractBackgroundHypertrophic cardiomyopathy (HCM) is caused by rare variants in sarcomere-encoding genes, but little is known about the clinical significance of these variants in the general population.MethodsWe compared outcomes and cardiovascular phenotypes in UK Biobank participants with whole exome sequencing stratified by sarcomere-encoding variant status.ResultsThe prevalence of rare variants (allele frequency <0.00004) in HCM-associated sarcomere-encoding genes in 200,584 participants was 2.9% (n=5,727; 1 in 35), of which 0.24% (n=474, 1 in 423) were pathogenic or likely pathogenic variants (SARC-P/LP). SARC-P/LP variants were associated with increased risk of death or major adverse cardiac events compared to controls (HR 1.68, 95% CI 1.37-2.06, p<0.001), mainly due to heart failure (HR 4.40, 95% CI 3.22-6.02, p<0.001) and arrhythmia (HR 1.55, 95% CI 1.18-2.03, p=0.002). In 21,322 participants with cardiac magnetic resonance imaging, SARC-P/LP were associated with increased left ventricular maximum wall thickness (10.9±2.7 vs 9.4±1.6 mm, p<0.001) and concentric remodelling (mass/volume ratio: 0.63±0.12 vs 0.58±0.09 g/mL, p<0.001), but hypertrophy (≥13mm) was only present in 16% (n=7/43, 95% CI 7-31%). Other rare sarcomere-encoding variants had a weak effect on wall thickness (9.5±1.7 vs 9.4±1.6 mm, p=0.002) with no combined excess cardiovascular risk (HR 1.00 95% CI 0.92-1.08, p=0.9).ConclusionsIn the general population, SARC-P/LP variants have low aggregate penetrance for overt HCM but are associated with an increased risk of adverse cardiovascular outcomes and a sub-clinical cardiomyopathic phenotype. In contrast, rare sarcomeric variants that do not meet criteria to be classified as P/LP appear to have minimal clinical impact.

Role of Cardiac MRI in Detecting Familial Hypertrophic Cardiomyopathy: Review

2016 ◽  
Vol 1 (1) ◽  
pp. 4
Author(s):  
Marymol Koshy ◽  
Bushra Johari ◽  
Mohd Farhan Hamdan ◽  
Mohammad Hanafiah
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Magnetic Resonance ◽  
Genetic Disorder ◽  
Familial Hypertrophic Cardiomyopathy ◽  
Non Invasive ◽  
Wide Range ◽  
Proper Diagnosis ◽  
Magnetic Resonance Imaging Mri ◽  
Potential Use

Hypertrophic cardiomyopathy (HCM) is a global disease affecting people of various ethnic origins and both genders. HCM is a genetic disorder with a wide range of symptoms, including the catastrophic presentation of sudden cardiac death. Proper diagnosis and treatment of this disorder can relieve symptoms and prolong life. Non-invasive imaging is essential in diagnosing HCM. We present a review to deliberate the potential use of cardiac magnetic resonance (CMR) imaging in HCM assessment and also identify the risk factors entailed with risk stratification of HCM based on Magnetic Resonance Imaging (MRI).

Myocardial Noncompaction

2018 ◽  
Vol 69 (8) ◽  
pp. 2209-2212
Author(s):  
Alexandru Radu Mihailovici ◽  
Vlad Padureanu ◽  
Carmen Valeria Albu ◽  
Venera Cristina Dinescu ◽  
Mihai Cristian Pirlog ◽  
...  
Keyword(s):  
Ventricular Arrhythmias ◽  
Specific Treatment ◽  
Left Ventricular ◽  
Left Ventricular Noncompaction ◽  
Ventricular Noncompaction ◽  
Genetic Transmission ◽  
Asymptomatic Patients ◽  
Increased Risk ◽  
Patients With Heart Failure

Left ventricular noncompaction is a primary cardiomyopathy with genetic transmission in the vast majority of autosomal dominant cases. It is characterized by the presence of excessive myocardial trabecularities that generally affect the left ventricle. In diagnosing this condition, echocardiography is the gold standard, although this method involves an increased risk of overdiagnosis and underdiagnosis. There are also uncertain cases where echocardiography is inconclusive, a multimodal approach is needed, correlating echocardiographic results with those obtained by magnetic resonance imaging. The clinical picture may range from asymptomatic patients to patients with heart failure, supraventricular or ventricular arrhythmias, thromboembolic events and even sudden cardiac death. There is no specific treatment of left ventricular noncompaction, but the treatment is aimed at preventing and treating the complications of the disease. We will present the case of a young patient with left ventricular noncompactioncardiomyopathy and highlight the essential role of transthoracic echocardiography in diagnosing this rare heart disease.

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