Apical Hypertrophic Cardiomyopathy Research Articles

Incremental prognostic value of left atrial strain in apical hypertrophic cardiomyopathy: a cardiovascular magnetic resonance study.

This study aimed to evaluate the prognostic value of left atrial (LA) strain in patients with apical hypertrophic cardiomyopathy (ApHCM), as assessed by cardiac magnetic resonance (CMR) imaging. Four hundred and five consecutive patients with ApHCM who underwent CMR examination were retrospectively included. The study endpoint included all-cause death, heart transplant, aborted sudden cardiac death, hospitalization for heart failure, stroke, and new-onset atrial fibrillation (AF). After a median follow-up of 97 months, 75 patients (18.5%) reached the endpoint. Patients were divided into two groups based on the median LA reservoir strain of 29.4%. The group with lower LA reservoir strain had thicker maximum wall thickness, greater late gadolinium enhancement extent, and smaller end-diastolic volume index, stroke volume index, and cardiac index (all p < 0.02). For LA parameters, this subgroup showed greater diameter and volume index and worse ejection fraction, reservoir, conduit, and booster strain (all p < 0.001). In the multivariable model, age (HR 1.88, 95% CI: 1.06-3.31, p = 0.030), baseline AF (HR 2.95, 95% CI: 1.64-5.28, p < 0.001), LA volume index (LAVi) (HR 2.07, 95% CI: 1.21-3.55, p = 0.008) and LA reservoir strain (HR 2.82, 95% CI: 1.51-5.26, p = 0.001) were all associated with the outcome. Adding LAVi and LA reservoir strain in turn to the multivariable model (age and baseline AF) resulted in significant improvements in model performance (p < 0.001). In ApHCM patients, LA reservoir strain is independently associated with cardiovascular risk events and has an incremental prognostic value. Left atrial reservoir strain measured by cardiac magnetic resonance is highly correlated with the prognosis of apical hypertrophic cardiomyopathy and has potential incremental value in the prognosis of major adverse cardiac events. Left atrial (LA) strain parameters may be useful for risk stratification and treatment of apical hypertrophic cardiomyopathy (ApHCM). Apical hypertrophic cardiomyopathy (ApHCM) is independently associated with LA morphology and function. Cardiac MR examination, especially its feature-tracking technology, provides the possibility to prognosticate ApHCM at an early stage.

Apical Hypertrophic Cardiomyopathy in Middle-aged Male with Chest Pain

Apical Hypertrophic Cardiomyopathy in Middle-aged Male with Chest Pain

Clinical Implications of Left Ventricular Apex Mechanics in Patients with Apical Hypertrophic Cardiomyopathy

Apical hypertrophic cardiomyopathy (ApHCM) is a unique disease with pathological hypertrophy mainly at the left ventricular (LV) apex. Although previous studies have indicated apical dysfunction in ApHCM, how apical mechanics change during disease progression has not been thoroughly examined. We aimed to characterize the mechanics of the LV apex in ApHCM patients at different disease stages and explore the clinical significance of these alterations. 104 ApHCM patients were divided into 3 subtypes based on LV apical maximum wall thickness (AMWT) and extent of hypertrophy: relative-type (isolated apical hypertrophy with AMWT <15 mm), pure-type (isolated apical hypertrophy with AMWT ≥15 mm), and mixed-type (both apical and midventricular hypertrophy with AMWT ≥15 mm). Two-dimensional speckle-tracking echocardiography was used to analyze LV segmental strain, global strain, and twist. Comparisons of these parameters were performed among ApHCM subtypes and 30 healthy controls. Logistic regression and Cox proportional hazard regression analyses were employed to explore associations between myocardial mechanics and clinical indicators. A composite outcome of new-onset atrial fibrillation, heart failure hospitalization, myectomy, and all-cause mortality was assessed. Even in relative ApHCM patients, apical longitudinal strain (LS), circumferential strain (CS), and radial strain (RS) were significantly impaired compared to controls (LS: -14.6±4.1% vs.-20.0±1.7%, p=0.001; CS: -19.6±2.5% vs.-25.6±3.7%, p=0.002; RS: 26.6±7.4% vs. 35.6±11.1%, p=0.026), while apical rotation and LV twist remained unchanged. In patients with greater apical hypertrophy (mixed and pure patients), apical LS and RS were more abnormal. Moreover, apical rotation showed significant reductions compared to relative-type patients. After adjusting for clinical and myocardial mechanical parameters, apical rotation was independently associated with NYHA class ≥ II (odds ratio =0.81, 95% confidence interval [CI]: 0.66-0.99, p=0.036) and the composite outcome (hazard ratio =0.82, 95% CI: 0.73-0.91, p=0.001). Relative ApHCM demonstrates apical dysfunction but sparing of apical rotation, which was abnormal in more extensive phenotypes. LV apex mechanics were closely related to clinical patterns, with apical rotation correlated with both NYHA class ≥ II and clinical events.

Long-term Outcomes of Patients with Apical Hypertrophic Cardiomyopathy Utilizing a New Risk Score

BackgroundApical hypertrophic cardiomyopathy (aHCM) is a distinct variant characterized by predominant hypertrophy of the LV apex. ObjectivesThis study sought to describe aHCM patients' characteristics and develop a risk score for aHCM patients. MethodsA total of 462 patients (58±15 years, 68% male) diagnosed with aHCM were included. The primary endpoint was death, appropriate defibrillator discharge or need for cardiac transplantation. Variables showing potential association with the composite endpoint were considered to develop an aHCM-specific risk score. Resultsat baseline, 67% patients were asymptomatic and 69% had no risk factors for sudden death. On echocardiography, the mean LV ejection fraction (LVEF), left atrial volume index (LAVI) and right ventricular systolic pressure (RVSP) were 64±8%, 36±15 ml/m2 and 32±10 mm Hg, respectively, with 51(11%) demonstrating an apical aneurysm. Baseline CMR, performed in 246 (53%) patients, demonstrated delayed gadolinium enhancement in 170 (71%) patients (mean percentage of 4.9±6.6%). At 6.3±4.8 years, the composite events occurred in 80 (17%, death in 62 [13%]) patients. The aHCM-specific risk score, incorporating age, apical aneurysm, LAVI, serum creatinine and RVSP, demonstrated good discrimination (c-statistic=0.75) with an expected to observed ratio of 1.02 and a calibration slope of 0.91. The risk score ranged between 0-8 points, with a higher score associated with higher composite events. ConclusionAHCM constituted 6.8% of our overall HCM cohort with a composite event rate of 2.8%/year. The aHCM risk score provided good discrimination in predicting the composite primary endpoint, with a higher score associated with a higher rate of events.

Comparison of Apical and Non-Apical HCM: Clinical, Imaging, and Genetic Analysis

Comparison of Apical and Non-Apical HCM: Clinical, Imaging, and Genetic Analysis

SPECT Myocardial Perfusion Imaging in the Diagnosis of Apical Hypertrophic Cardiomyopathy- Case Series and Literature Review

SPECT Myocardial Perfusion Imaging in the Diagnosis of Apical Hypertrophic Cardiomyopathy- Case Series and Literature Review

Apical hypertrophic cardiomyopathy in a Caucasian male: A case report

Apical hypertrophic cardiomyopathy (ApHCM) is relatively uncommon variant of hypertrophic cardiomyopathy which typically influences the left ventricular apex. We report a case of a 64-year-old Caucasian male who presented to the ER with pain in his chest (angina) and diaphoresis, diagnosis of ApHCM was reached. The variable presentation, clinical course of the disease and limited literature among Caucasian population creates a challenge in detecting it and results in delayed or missed diagnosis, however by spotting its characteristic features on electrocardiography (the “giant” negative precordial T‐waves) and the “ace of spades” configuration on echocardiogram as well as using cardiac catheterization and cardiac MRI, diagnosis can be confirmed. This particular case will underscore the infrequent occurrence of ApHCM in Caucasians, along with the its complex diagnostic and presentation characteristics it produces.

Apical hypertrophic cardiomyopathy

The review provides information about apical hypertrophic cardiomyopathy (HCM), which is a relatively rare phonotype of HCM. Previously, it was believed that apical HCMP has a favorable prognosis, but recent studies have demonstrated an increased risk of fatal arrhythmias and sudden cardiac death, especially among elderly patients, women and those with comorbidities such as arterial hypertension and diabetes mellitus. Patients with apical HCMP complain of chest pain, shortness of breath and palpitations. The diagnosis is based on data from various investigation methods, among which imaging techniques such as echocardiography and cardiac magnetic resonance imaging are crucial. For apical HCMP, a characteristic sign is the identification of the configuration of the left ventricular cavity at the end of the systole resembling to the type "Ace-of-spades". Treatment includes pharmacotherapy using beta-blockers, calcium channel blockers, cardiac myosin inhibitors and surgical interventions. The lack of information on unfavorable prognostic factors, the lack of specific clinical data and the complexity of instrumental diagnosis emphasize the relevance of studying the problem of apical HCMP.

Spectrum and genotype–phenotype relationship of ALPK3 variants in Chinese patients with hypertrophic cardiomyopathy

BackgroundHypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease, and it has obvious genetic and clinical heterogeneity. Recently, heterozygous ALPK3 truncating variants (ALPK3tv) have been shown to cause HCM. However, the spectrum of ALPK3 variants and their relationships with the clinical characteristics of Chinese patients with HCM remain to be elucidated. Methods and resultsWhole-exome sequencing data from 986 patients with HCM and 761 controls without HCM were utilized to analyze ALPK3 variants. Eleven ALPK3tv were detected in 18 patients with HCM (1.8 %), while no such variants were identified in controls. We also detected 21 rare ALPK3 missense variants in 16 patients with HCM (1.6 %) and 8 controls (1.1 %), respectively. ALPK3tv were significantly enriched in patients with HCM (P < 0.001), whereas the prevalence of missense variants was comparable between the HCM and control groups (P = 0.309). Patients with ALPK3tv exhibited a significantly lower left ventricular outflow tract gradient (P = 0.011) and a higher prevalence of apical HCM (27.8 %; P = 0.008). ConclusionsOur study supports that heterozygous ALPK3tv, but not APLK3 missense variants, are a genetic cause of HCM. Patients with HCM carrying ALPK3tv have a greater likelihood of developing apical HCM.

Clinical and pathophysiologic determinants of catheter ablation outcome in hypertrophic cardiomyopathy with atrial fibrillation

AbstractBackgroundHypertrophic cardiomyopathy (HCM) is frequently associated with atrial fibrillation (AF). We compared clinical, echocardiographic, and electrophysiological parameters between HCM subtypes and those without HCM at AF catheter ablation (AFCA) and analyzed post‐AFCA reverse remodeling and AF recurrence based on HCM presence and subtype.MethodsAmong 5161 consecutive patients who underwent de novo AFCA, we included HCM patients and control patients who were age‐, gender‐, and AF type‐matched. Between AF‐HCM patients and controls, we compared baseline values for left atrium (LA) wall thickness (LAWT), reverse remodeling at 1‐year follow‐up, and procedural outcomes over the course of follow‐up between two groups.ResultsA total of 122 AF‐HCM patients and 318 control patients were included. AF‐HCM patients had more frequent heart failure and higher LA diameter, E/Em, and LA pressure (all, p &lt; .001). However, LAWT did not differ from control group. A year after AFCA, degree of LA reverse remodeling was significantly lower in AF‐HCM than in control group (ΔLA dimension, p = .025). Nonapical HCM (HR 1.71; 95% CI 1.05–2.80), persistent AF (HR 1.46; 95% CI 1.05–2.04), and LA dimension (HR 1.04; 95% CI 1.01–1.06) were independent risk factors for AF recurrence. During 78.0 months of follow‐up, nonapical HCM patients showed higher AF recurrence rate than both apical HCM (log‐rank p = .005) and control patients (log‐rank p = .002).ConclusionsThe presence of HCM, particularly nonapical HCM, displayed increased LA hemodynamic loading with diastolic dysfunction and had poorer rhythm outcomes after AFCA compared to both apical HCM and control group.

Takotsubo cardiomyopathy mimicking an apical hypertrophic cardiomyopathy

A 45-years old woman presented for dyspnea and cardiac chest pain. ECG showed deep T-wave inversion while CMR showed normal ejection fraction, hypertrophy and systolic obliteration of the apex suggesting apical HCM. Myocardial oedema was noted at the apex. Complete regression of hypertrophy and myocardial edema was observed after 2 months, and a final diagnosis of subacute Takotsubo was made.

Invasive Cardiac Hemodynamics in Apical Hypertrophic Cardiomyopathy.

Symptomatic limitations in apical hypertrophic cardiomyopathy may occur because of diastolic dysfunction with resultant elevated left ventricular filling pressures, cardiac output limitation to exercise, pulmonary hypertension (PH), valvular abnormalities, and/or arrhythmias. In this study, the authors aimed to describe invasive cardiac hemodynamics in a cohort of patients with apical hypertrophic cardiomyopathy. Patients presenting to a comprehensive hypertrophic cardiomyopathy center with apical hypertrophic cardiomyopathy were identified (n=542) and those who underwent invasive hemodynamic catheterization (n=47) were included in the study. Of these, 10 were excluded due to postmyectomy status or incomplete hemodynamic data. The mean age was 56±18 years, 16 (43%) were women, and ejection fraction was preserved (≥50%) in 32 (91%) patients. The most common indication for catheterization was dyspnea (48%) followed by suspected PH (13%), and preheart transplant evaluation (10%). Elevated left ventricular filling pressures at rest or exercise were present in 32 (86%) patients. PH was present in 30 (81%) patients, with 6 (20%) also having right-sided heart failure. Cardiac index was available in 25 (86%) patients with elevated resting filling pressures. Of these, 19 (76%) had reduced cardiac index and all 6 with right-sided heart failure had reduced cardiac index. Resting hemodynamics were normal in 8 of 37 (22%) patients, with 5 during exercise; 3 of 5 (60%) patients had exercise-induced elevation in left ventricular filling pressures. In patients with apical hypertrophic cardiomyopathy undergoing invasive hemodynamic cardiac catheterization, 86% had elevated left ventricular filling pressures at rest or with exercise, 81% had PH, and 20% of those with PH had concomitant right-sided heart failure.

Accurate diagnosis of apical hypertrophic cardiomyopathy using explainable advanced electrocardiogram analysis.

Typical electrocardiogram (ECG) features of apical hypertrophic cardiomyopathy (ApHCM) include tall R waves and deep or giant T-wave inversion in the precordial leads, but these features are not always present. The ECG is used as the gatekeeper to cardiac imaging for diagnosis. We tested whether explainable advanced ECG (A-ECG) could accurately diagnose ApHCM. Advanced ECG analysis was performed on standard resting 12-lead ECGs in patients with ApHCM [n = 75 overt, n = 32 relative (<15 mm hypertrophy); a subgroup of which underwent cardiovascular magnetic resonance (n = 92)], and comparator subjects (n = 2449), including healthy volunteers (n = 1672), patients with coronary artery disease (n = 372), left ventricular electrical remodelling (n = 108), ischaemic (n = 114) or non-ischaemic cardiomyopathy (n = 57), and asymmetrical septal hypertrophy HCM (n = 126). Multivariable logistic regression identified four A-ECG measures that together discriminated ApHCM from other diseases with high accuracy [area under the receiver operating characteristic (AUC) curve (bootstrapped 95% confidence interval) 0.982 (0.965-0.993)]. Linear discriminant analysis also diagnosed ApHCM with high accuracy [AUC 0.989 (0.986-0.991)]. Explainable A-ECG has excellent diagnostic accuracy for ApHCM, even when the hypertrophy is relative, with A-ECG analysis providing incremental diagnostic value over imaging alone. The electrical (ECG) and anatomical (wall thickness) disease features do not completely align, suggesting that future diagnostic and management strategies may incorporate both features.

Interventricular Septal Involvement Is Associated with More Impaired Ventricular Function and Mechanics in Apical Hypertrophic Cardiomyopathy.

The interventricular septum has an important role in bi-ventricular performance. We hypothesized that septal involvement in apical hypertrophic cardiomyopathy (ApHCM-Mixed) adversely impacts ventricular structure and function when compared with isolated apical hypertrophy (ApHCM-Pure). A total of 72 patients (ApHCM-Mixed = 36, ApHCM-Pure = 36) with serial 2D and speckle-tracking echocardiographic analyses were identified. Ventricular function and mechanics were characterized by left (LV) and right (RV) ventricular global longitudinal strain (GLS), RV free wall strain, and LV myocardial work indices, and clinical events were adjudicated. Clinical characteristics were similar between groups (mean age, 66 ± 15 years; 49% female; LV ejection fraction, 68 ± 11%). The ApHCM-Mixed group had larger LV mass indexes (141 ± 39 vs. 111 ± 30 g/m2, p < 0.001), worse LV (-9.6 ± 3.1 vs. -14.4 ± 3.4%, p < 0.001) and RV GLS (-14.3 ± 6.7 vs. -19.2 ± 5.2%, p = 0.001), impaired RV free wall strain (-18.5 ± 7.4 vs. -22.4 ± 6.3%, p = 0.02), and lower LV myocardial work indices including global work index (938 ± 306 vs. 1272 ± 339 mmHg%, p < 0.001), when compared with the ApHCM-Pure group. At a mean follow-up of 3.9 years, these differences all persisted. Five deaths were observed, all occurring in the ApHCM-Mixed group (14% vs. 0, p = 0.05), and with four being cardiac-related. This subgroup had a mean LV ejection fraction of 63%, LV GLS of -8.7%, an LV global work index of 875 mmHg%, and RV free wall strain of -15.9%, indicating significant subclinical bi-ventricular dysfunction. ApHCM-Mixed represents a distinct morphology in hypertrophic cardiomyopathy associated with more impaired ventricular function and mechanics when compared with ApHCM-Pure.

Prevalence, sex differences, and implications of pulmonary hypertension in patients with apical hypertrophic cardiomyopathy.

Apical hypertrophic cardiomyopathy (ApHCM) is a subtype of hypertrophic cardiomyopathy (HCM) that affects up to 25% of Asian patients and is not as well understood in non-Asian patients. Although ApHCM has been considered a more "benign" variant, it is associated with increased risk of atrial and ventricular arrhythmias, apical thrombi, stroke, and progressive heart failure. The occurrence of pulmonary hypertension (PH) in ApHCM, due to elevated pressures on the left side of the heart, has been documented. However, the exact prevalence of PH in ApHCM and sex differences remain uncertain. We sought to evaluate the prevalence, risk associations, and sex differences in elevated pulmonary pressures in the largest cohort of patients with ApHCM at a single tertiary center. A total of 542 patients diagnosed with ApHCM were identified using ICD codes and clinical notes searches, confirmed by cross-referencing with cardiac MRI reports extracted through Natural Language Processing and through manual evaluation of patient charts and imaging records. In 414 patients, echocardiogram measurements of pulmonary artery systolic pressure (PASP) were obtained at the time of diagnosis. The mean age was 59.4 ± 16.6 years, with 181 (44%) being females. The mean PASP was 38 ± 12 mmHg in females vs. 33 ± 9 mmHg in males (p < 0.0001). PH as defined by a PASP value of > 36 mmHg was present in 140/414 (34%) patients, with a predominance in females [79/181 (44%)] vs. males [61/233 (26%), p < 0.0001]. Female sex, atrial fibrillation, diagnosis of congestive heart failure, and elevated filling pressures on echocardiogram remained significantly associated with PH (PASP > 36 mmHg) in multivariable modeling. PH, when present, was independently associated with mortality [hazard ratio 1.63, 95% CI (1.05-2.53), p = 0.028] and symptoms [odds ratio 2.28 (1.40, 3.71), p < 0.001]. PH was present in 34% of patients with ApHCM at diagnosis, with female sex predominance. PH in ApHCM was associated with symptoms and increased mortality.

Device therapy and treatment options in a patient with apical hypertrophic cardiomyopathy: Combination of a leadless pacemaker with a subcutaneous defibrillator

Device therapy and treatment options in a patient with apical hypertrophic cardiomyopathy: Combination of a leadless pacemaker with a subcutaneous defibrillator

THE DIAGNOSTIC VALUE OF CARDIAC MRI IN DETERMINING HYPERTROPHIC CARDIOMYOPATHY PHENOTYPES Using T1 and T2 mapping and late gadolinium enhancement to accurately diagnose hypertrophic cardiomyopathy

Objective: Hypertrophic cardiomyopathy (HCM) is a genetic disorder characterized by thickening of the heart muscle and may have serious consequences. Diversity in the distribution and degree of hypertrophy has led to the classification of HCM types. Cardiac MR (CMR) imaging is a non-invasive tool that maintains accurate and detailed data about cardiac functions and structure. The aim of the study was to observe and compare the CMR characteristics of the three HCM morphologic types (asymmetric, concentric, and apical). Materials and Methods: 56 patients (female/male: 29/58, mean age 46.31±15.12, body surface area (BSA) 1.88±0.19 m2) who were referred for HCM diagnosis or follow-up between January 2020- January 2023 were included in this single-center retrospective study. The imaging procedure was conducted using a 1.5 T device (Aera, Siemens Medical Systems, Erlangen, Germany). Cardiac volume and functions were determined quantitatively. The location and amount of late gadolinium enhancement (LGE) was evaluated qualitatively. The statistical analyses were performed using SPSS version 25.0. A P value under 0.05 was considered statistically significant. Results: LGE revealed myocardial fibrosis in apical HCM (ApHCM), a higher prevalence than in asymmetric and concentric HCM. ApHCM and asymmetric HCM patients widely presented midmyocardial fibrosis, where most concentric HCM patients had patchy involvement. The mean native myocardial T1 values for individuals with concentric HCM was found to be higher compared to those with asymmetric and ApHCM and the healthy participants. Conclusion: CMR imaging enables the multiparametric evaluation of HCM through the utilization of native T1 and T2 mapping techniques, as well as LGE. Both T1 and T2 values have the potential to be used in conjunction with LGE to identify regions of myocardial fibrosis.

A novel case of yamaguchi syndrome in the Saudi population

Background: Apical hypertrophic cardiomyopathy (ApHCM) known as Yamaguchi syndrome, is an uncommon variant of hypertrophic cardiomyopathy, with higher incidence reported in the Asian populations. The clinical presentation of ApHCM is vague thus can mimic other conditions, which can lead to a delayed or a missed diagnosis. Only a few reports have described the incidence of Yamaguchi syndrome in other populations other than Asians. Case Presentation: A 46-year-old male, heavy smoker, with unremarkable past medical history was presented to the emergency department with severe central chest pain that radiates to the left side, exacerbated by excretion, and relived by rest not associated with shortness of breath or palpitation. Additionally, the patient reported two similar episodes that occurred the past 4 days. However, physical examination was unremarkable. Initially the patient was labeled as high-risk acute coronary syndrome (unstable angina vs non-ST segment myocardial infarction). Cardiac markers including troponin I and Creatine kinase-MB were within normal range. ECG revealed deep T wave inversion in the inferior limb leads and pericardial leads suggestive of right coronary and left anterior descending artery or left main coronary lesion. The patient underwent for urgent cardiac catheterization which revealed normal coronary arteries. Transthoracic echocardiograph (TTE) showed isolated apical hypertrophy with preserved LV function, suggestive of ApHCM. The patient was advised on smoking cessation and discharged on beta blocker. Conclusion: There is an imminent need to establish further research investigating the prevalence of Yamaguchi syndrome among the Saudi population.

Трансапикальная миоэктомия как альтернатива трансплантации сердца у пациента с апикальной гипертрофической кардиомиопатией

Трансапикальная миоэктомия как альтернатива трансплантации сердца у пациента с апикальной гипертрофической кардиомиопатией

Incidental finding of lung carcinoma invading the left atrium

We report a clinical case of a 64-year-old male with known apical hypertrophic cardiomyopathy, who presented to the hospital with new-onset persistent atrial fibrillation. An electrical cardioversion (ECV) was planned after one month of anticoagulation therapy and transesophageal echocardiogram (TEE) was performed beforehand. During the TEE thrombus in the left atrial appendage was detected, as well as a heterogeneous, hyperechoic, vascularized and non-mobile structure in the left atrium (LA). The ECV was cancelled and the patient was sent for computerized tomography (CT) chest scan. It revealed a big mass in the right lung with macromorphology of central lung carcinoma. There was tumor infiltration of the pericardium and the LA, as well as adrenal and liver metastases. The patient was sent for bronchoscopy with biopsy.