Apical hypertrophic cardiomyopathy (HCM) is a rare variant of HCM. A 43-year-old female with a past medical history significant for hypertension and kidney transplantation presented with recurrent syncopal episodes and dyspnea on exertion. Electrocardiogram showed characteristic diffuse giant T-waves inversion, and cardiac magnetic resonance showed HCM with circumferential apical thickening. This case highlights the rapid development of apical HCM and its challenging diagnostic characteristics.

暂无摘要。

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.

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.
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.

OBJECTIVE: 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.
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)].
CONCLUSIONS: 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.

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.

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.

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.

UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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].
UNASSIGNED: 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.

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.