Invasive Cardiac Hemodynamics in Apical Hypertrophic Cardiomyopathy.

BACKGROUND: 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. METHODS AND RESULTS: 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. CONCLUSIONS: 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.

Intramyocardial calcification in apical hypertrophic cardiomyopathy assessed using multimodality imaging: a case series.

Apical hypertrophic cardiomyopathy (ApHCM) is an HCM variant, affecting frequently males in midlife. It is characterized by apical obliteration and persistent diastolic contraction, often resulting in microvascular ischaemia. We report five cases of ApHCM, with evidence of intramyocardial calcification on echocardiogram. On cardiac magnetic imaging (MRI), a hypointense component at early gadolinium enhancement (EGE) sequences, compatible with calcium, and a deep layer, with hyperintensity at late gadolinium enhancement (LGE) sequences, referable to fibrosis, suggest an endomyocardial fibrosis (EMF) diagnosis. EMF pathologic hallmark is endocardium and myocardium scarring, evolving to dystrophic calcification. It is found only in few ApHCM patients. Our series is the largest one described until now. Analysing patients' history, coexistent inflammatory triggers were evident in all of them, so their co-morbidities could represent a further cause of small vessel disease, in the context of ischaemic microvascular stress due to hypertrophy, leading to fibrosis and dystrophic calcification. This series could demonstrate the relation between apical fibrosis/calcification and microvascular ischaemia due to hypertrophy and inflammatory triggers.

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

AIMS: 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. METHODS AND RESULTS: 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)]. CONCLUSION: 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.

Apical Hypertrophic Cardiomyopathy Presenting With Syncope in a Hispanic Woman: A Report of a Rare Case.

Yamaguchi syndrome or apical hypertrophic cardiomyopathy is a rare subtype of non-obstructive hypertrophic cardiomyopathy that is defined as the focused hypertrophy of the left ventricular apex. It is typically seen in Asian populations. Herein, we present a rare case of Yamaguchi syndrome seen in a Hispanic female.

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

BACKGROUND: 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). METHODS: 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. RESULTS: 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. CONCLUSIONS: ApHCM-Mixed represents a distinct morphology in hypertrophic cardiomyopathy associated with more impaired ventricular function and mechanics when compared with ApHCM-Pure.

A Case Report of Yamaguchi Syndrome in a Saudi Male.

Apical hypertrophic cardiomyopathy, also called Yamaguchi syndrome, is a rare variant of hypertrophic cardiomyopathy. Yamaguchi syndrome is characterized by hypertrophy almost confined to the apical region of the left ventricle rather than the left ventricular septum. A case of 65-year-old Saudi man presented to the ER with angina, and the ECG, echocardiogram, and nuclear study confirmed the diagnosis with Yamaguchi. Reporting this case serves to help physicians broaden their vision in approaching patients with symptoms mimicking acute coronary syndrome.

Apical hypertrophic cardiomyopathy: pathophysiology, diagnosis and management.

Since the first description of apical hypertrophic cardiomyopathy (ApHCM) in 1976, contrasting information from all over the world has emerged regarding the natural history of the disease. However, the recommended guidelines on hypertrophic cardiomyopathy (HCM) pay a cursory reference to ApHCM, without ApHCM-specific recommendations to guide the diagnosis and management. In addition, cardiologists may not be aware of certain aspects that are specific to this disease subtype, and a robust understanding of specific disease features can facilitate recognition and timely diagnosis. Therefore, the review covers the incidence, pathogenesis, and characteristics of ApHCM and imaging methods. Echocardiography and cardiovascular magnetic resonance imaging (CMR) are the most commonly used imaging methods. Moreover, this review presents the management strategies of this heterogeneous clinical entity. In this review, we introduce a novel transapical beating-heart septal myectomy procedure for ApHCM patients with a promising short-time result.

An Unusual Presentation of Apical Hypertrophic Cardiomyopathy in an Orthotopic Heart Transplant Recipient.

In this case study, we present the evaluation of an orthotopic heart transplant (OHT) patient who presented with persistent shortness of breath and dizziness upon standing. The investigation uncovered the presence of progressive hypertrophic cardiomyopathy (HCM) in the transplanted heart, a condition first detected 11 years after the transplantation. Utilizing echocardiography with global longitudinal strain (GLS), we determined that the HCM likely originated from genetic predominance inherited from the heart donor rather than hypertensive disease. This finding highlights the significance of genetic factors in post-transplant complications and warrants further investigation into the long-term effects of heart transplantation on recipient health.

Left ventricular apical aneurysm resection and mitral valve replacement for apical hypertrophic cardiomyopathy.

Key clinical message: Left ventricular apical hypertrophic cardiomyopathy with an apical aneurysm carries a risk of thrombosis and can also lead to atrial fibrillation and functional mitral regurgitation. Abstract: A 78-year-old woman underwent left ventricular apical aneurysm (LVAA) resection and mitral valve replacement for severe atrial functional mitral regurgitation. ApHCM can cause atrial fibrillation and atrial functional mitral valve regurgitation. LVAA resection in addition to mitral valve replacement was reasonable to prevent fatal complications associated with LVAA.

Cardiac magnetic resonance as a risk re-stratification tool in apical hypertrophic cardiomyopathy.

Apical hypertrophic cardiomyopathy (ApHCM) can result in the formation of a left ventricular apical aneurysm and progressive myocardial fibrosis, which is associated with a worse prognosis. We present the case of a 76-year-old man previously diagnosed with ApHCM seven years ago, who has been under clinical follow-up. Serial cardiac magnetic resonance (CMR) imaging was performed in 2013 and 2020 due to suspected apical aneurysm formation based on echocardiographic evaluation. The 2020 CMR imaging revealed an increase in myocardial fibrosis observed through late-gadolinium enhancement images and, for the first time, a small apical aneurysm that was not clearly visualized on two-dimensional echocardiography. The time course leading to the development of an ApHCM aneurysm is not well-defined and may impact the clinical course.

La miocardiopatía hipertrófica apical (MCHap) puede provocar la formación de un aneurisma apical del ventrículo izquierdo (LV) y una fibrosis miocárdica progresiva que se relaciona con un peor pronóstico. Se presenta el relato de un paciente de 76 años con diagnóstico previo de MCHap hace siete años en seguimiento clínico. Se realizó una resonancia magnética cardíaca (RMC) seriada en 2013 y 2020, ante la sospecha de formación de aneurisma apical mediante ecocardiografía. Las imágenes RMC del 2020 demostraron un aumento de la fibrosis miocárdica mediante imágenes de realce tardío con gadolinio y, por primera vez, un pequeño aneurisma apical que no fue definido en forma precisa en la ecocardiografía bidimensional. El tiempo de progresión hasta el desarrollo del aneurisma en la MCHap no está claramente definido y puede relacionarse con cambios en el curso clínico.

Improved Diagnostic Criteria for Apical Hypertrophic Cardiomyopathy.

BACKGROUND: There is no acceptable maximum wall thickness (MWT) threshold for diagnosing apical hypertrophic cardiomyopathy (ApHCM), with guidelines referring to ≥15 mm MWT for all hypertrophic cardiomyopathy subtypes. A normal myocardium naturally tapers apically; a fixed diagnostic threshold fails to account for this. Using cardiac magnetic resonance, "relative" ApHCM has been described with typical electrocardiographic features, loss of apical tapering, and cavity obliteration but also with MWT <15 mm. OBJECTIVES: The authors aimed to define normal apical wall thickness thresholds in healthy subjects and use these to accurately identify ApHCM. METHODS: The following healthy subjects were recruited: healthy UK Biobank imaging substudy subjects (n = 4,112) and an independent healthy volunteer group (n = 489). A clinically defined disease population of 104 ApHCM subjects was enrolled, with 72 overt (MWT ≥15 mm) and 32 relative (MWT <15 mm but typical electrocardiographic/imaging findings) ApHCM subjects. Cardiac magnetic resonance-derived MWT was measured in 16 segments using a published clinically validated machine learning algorithm. Segmental normal reference ranges were created and indexed (for age, sex, and body surface area), and diagnostic performance was assessed. RESULTS: In healthy cohorts, there was no clinically significant age-related difference for apical wall thickness. There were sex-related differences, but these were not clinically significant after indexing to body surface area. Therefore, segmental reference ranges for apical hypertrophy required indexing to body surface area only (not age or sex). The upper limit of normal (the largest of the 4 apical segments measured) corresponded to a maximum apical MWT in healthy subjects of 5.2 to 5.6 mm/m2 with an accuracy of 0.94 (the unindexed equivalent being 11 mm). This threshold was categorized as abnormal in 99% (71/72) of overt ApHCM patients, 78% (25/32) of relative ApHCM patients, 3% (122/4,112) of UK Biobank subjects, and 3% (13/489) of healthy volunteers. CONCLUSIONS: Per-segment indexed apical wall thickness thresholds are highly accurate for detecting apical hypertrophy, providing confidence to the reader to diagnose ApHCM in those not reaching current internationally recognized criteria.

Predicting apical hypertrophic cardiomyopathy using T-wave inversion: Three case reports.

BACKGROUND: Apical hypertrophic cardiomyopathy (AHCM) is a subtype of hypertrophic cardiomyopathy. Due to its location, the thickening of the left ventricular apex can be missed on echocardiography. Giant negative T waves (GNTs) in left-sided chest leads are the hallmark electrocardiogram (ECG) change of AHCM. CASE SUMMARY: The first patient was a 68-year-old woman complaining of recurrent chest tightness persisting for more than 3 years. The second was a 59-year-old man complaining of spasmodic chest tightness persisting for more than 2 years. The third was a 55-year-old woman complaining of recurrent chest pain persisting for 4 mo. In all three cases, GNTs were observed several years prior to apical cardiac hypertrophy after other causes of T-wave inversion were ruled out. CONCLUSION: Electrophysiological abnormalities of AHCM appear earlier than structural abnormalities, confirming the early predictive value of ECG for AHCM.

Right Ventricular Apical Hypertrophic Cardiomyopathy in Association With Infundibular, Valvular, and Supravalvular Pulmonary Stenosis.

A 31-year-old man was referred to our hospital because of exertional dyspnea and palpitations. Cardiac examination revealed a systolic murmur in the pulmonic area. Owing to the suspicion of pulmonary stenosis, cardiac magnetic resonance was notable for apical hypertrophy of the right ventricle and mixed pulmonary stenosis. (Level of Difficulty: Intermediate.).

ECG Abnormalities Preceding Structural Changes of Apical Hypertrophic Cardiomyopathy by up to 10 Years.

A 48-year-old man with hypertension and hypercholesterolemia was referred with an abnormal ECG showing signs of myocardial ischemia and structural change consistent with ventricular hypertrophy. Upon further workup with MRI, echocardiogram, and exercise stress test with perfusion images, it was determined that the man had no cardiac abnormalities. Ten years later, the patient developed structural changes consistent with the abnormal ECG. The patient was diagnosed with apical hypertrophic cardiomyopathy and was treated appropriately with an automatic implantable cardiac defibrillator. The objective of this clinical case report is to highlight this unusual incident where ECG changes preceded structural changes within the heart by 10 years.

High-Risk Apical Hypertrophic Cardiomyopathy Requiring an Implantable Cardioverter-Defibrillator: A Case Report of an Overlooked Etiology.

Apical hypertrophic cardiomyopathy is a rare variant of hypertrophic cardiomyopathy characterized by abnormal heart muscle thickening, specifically affecting the left ventricle's apex. Classically revealing both giant T-wave inversions in the precordial leads of an electrocardiogram and a spade-like configuration of the left ventricular cavity on ventriculograms, the diagnosis of the apical variant has evolved with cardiac magnetic resonance imaging. Despite being well known among East Asian populations, the diagnosis of apical hypertrophic cardiomyopathy is often underestimated and overlooked among American patients due to the non-specific nature of echocardiography. In this case report, we present the diagnosis of apical hypertrophic cardiomyopathy in a middle-aged African American male with chronic palpitations. The diagnosis was confirmed using cardiac magnetic resonance imaging, which revealed extensive myocardial fibrosis. Ultimately, the patient was treated with an implantable cardioverter-defibrillator. Our case aims to enhance the understanding and facilitate the recognition and management of apical hypertrophic cardiomyopathy, particularly among non-Asian individuals. Current challenges revolve around robust risk stratification strategies for patients at high risk for sudden cardiac death that require device therapy.

Left ventricular strain and myocardial work in apical hypertrophic cardiomyopathy.

Background: Apical hypertrophic cardiomyopathy (ApHCM) is recognized for its associated cardiovascular morbidity. Herein we describe left ventricular (LV) function and mechanics over long-term follow-up in ApHCM. Methods: A retrospective study of 98 consecutive ApHCM patients was performed (mean age: 64±15 years, 46% female) using 2D and speckle-tracking echocardiography. LV function and mechanics were characterized by global longitudinal strain (GLS), segmental strain, and myocardial work indices. Myocardial work was calculated by integrating longitudinal strain and blood pressure as estimated by the brachial artery cuff pressure, to generate an LV pressure-strain loop with adjusted ejection and isovolumetric periods. Composite complications were defined as all-cause mortality, sudden death, myocardial infarction, and/or stroke. Results: Mean LV ejection fraction measured 67%±11% and GLS was -11.7%±3.9%. Global work index (GWI) was 1,073±349 mmHg%, constructive work was 1,379±449 mmHg%, wasted work was 233±164 mmHg%, and work efficiency was 82%±8%. In 72 patients with follow-up echocardiography, at a median of 3.9 years there was progressive impairment in GLS (-11.9% vs. -10.7%; P=0.006), GWI (1,105 vs. 989 mmHg%; P=0.02), and global constructive work (1,432 vs. 1,312 mmHg%; P=0.03), without change in wasted work or work efficiency. Atrial fibrillation (ß=0.37; P<0.001), mitral annular e' velocity (ß=-0.32; P=0.001), and glomerular filtration rate (ß=-0.2; P=0.03) were independently associated with follow-up GLS; atrial fibrillation (ß=-0.27; P=0.01) and glomerular filtration rate (ß=0.23; P=0.04) were also associated with follow-up GWI. Global wasted work >186 mmHg% was predictive of composite complications (AUC =0.7, 95% CI: 0.53-0.82, sensitivity 93%, specificity 41%). Conclusions: ApHCM is associated with preserved LV ejection fraction but abnormal LV GLS and work indices, with progressive impairment. Important clinical and echocardiographic measures are independently predictive of long-term follow-up LV GLS, GWI and adverse events.

Myocardial Work in Apical Hypertrophic Cardiomyopathy.

BACKGROUND: Pressure-strain loop analysis is a novel echocardiographic technique to calculate myocardial work indices that has not been applied to patients with apical hypertrophic cardiomyopathy (ApHCM). We hypothesized that myocardial work indices differ between patients with ApHCM and those with non-ApHCM. This study aimed to (1) evaluate myocardial work indices in patients with ApHCM compared with those with non-ApHCM, (2) describe associations with relevant clinical variables, and (3) examine associations with significant late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging. METHODS: We retrospectively identified 48 patients with ApHCM and 69 with non-ApHCM who had measurements of global longitudinal strain (GLS), global work index (GWI), global constructive work (GCW), global wasted work, and global work efficiency. We evaluated available cardiac magnetic resonance imaging data on 34 patients with ApHCM and 51 with non-ApHCM. Multivariable regression models correcting for traditional cardiac risk factors were used to evaluate the associations of myocardial work indices with relevant clinical variables. RESULTS: Median GLS (-11% vs -18%, P < .001), GWI (966 mm Hg% vs 1803 mm Hg%, P < .001), and GCW (1,050 mm Hg% vs 1,988 mm Hg%, P < .001) were significantly impaired in patients with ApHCM compared with those with non-ApHCM. Increasing N-terminal pro b-type natriuretic peptide, abnormal ultrasensitive troponin, and increasing maximal left ventricular wall thickness were significantly associated with reduced GWI and GCW in patients with ApHCM (P < .05). Global constructive work had only modest accuracy (area under the curve [AUC] = 0.70) to predict LGE in patients with ApHCM. However, in patients with non-ApHCM, GLS was the strongest predictor of LGE (AUC = 0.91), with a -17% cutoff yielding 81% sensitivity and 80% specificity. CONCLUSION: Myocardial work indices are significantly impaired in patients with ApHCM compared to those with non-ApHCM and correlate with important clinical variables. Global longitudinal strain, GWI, and GCW are more strongly predictive of fibrosis in patients with non-ApHCM than ApHCM.