Case Report: Left ventricular apical hypertrophy in a patient with Leopard syndrome mimicking a cardiac tumor: a diagnostic challenge resolved by multimodality imaging.

Background: LEOPARD syndrome (LS) is a rare genetic disorder presenting various clinical manifestations from childhood, complicating its diagnosis. In this study, we aim to refine the imaging presentation of LS and emphasize the importance of multimodality imaging in enhancing diagnostic accuracy and preventing serious cardiovascular events. Case: A 41-year-old woman was admitted to hospital with a suspected apical tumor detected by a transthoracic echocardiogram (TTE), which was later identified as apical myocardial hypertrophy through cardiac magnetic resonance imaging (CMR). She had abnormal electrocardiograms from the age of 2 years and freckles around the age of 4 years. In recent years, she has been experiencing exertional dyspnea. Supplemental coronary computer tomography angiography (CCTA) revealed diffuse coronary dilatation. Both multimodality imaging and clinical manifestations led to a suspicion of LS, which was confirmed by subsequent genetic testing. The patient declined further treatment. A 3-month follow-up CMR showed no significant change in the lesion. Conclusion: This report elucidates the diagnostic transition from an initial suspicion of an apical tumor by TTE to a definitive diagnosis of left ventricular apical hypertrophy by CMR in a 41-year-old woman with LS. It underscores the value of multimodality imaging (TTE, CCTA, CMR) in unraveling unusual cardiac manifestations in rare genetic disorders such as LS.

Efficacy and safety of a transaortic approach to midventricular and apical septal myectomy.

OBJECTIVE: The study objective was to evaluate the safety and efficacy of a transaortic approach to midventricular and apical septal myectomy in patients with hypertrophic cardiomyopathy with left ventricular outflow tract or midventricular obstruction. METHODS: From January 2018 to August 2023, 940 patients underwent transaortic septal myectomy at the Cleveland Clinic, of whom 682 (73%) had midventricular or apical resection. Patients who underwent isolated basal myectomies were excluded. Templated operative reports designated septal regions resected as basal (opposition to mitral valve up to the leaflet tips), midventricular (leaflet tips to just beyond the papillary muscle heads), and apical (apical third of the ventricle). Myocardial resection specimen weights, intraventricular gradients, and clinical outcomes were assessed. RESULTS: Of the 682 patients, 582 (85%) had basal plus midventricular resection and 78 (11%) had basal, midventricular, and apical resection. Mean preoperative intraventricular gradient was 102 ± 41 mm Hg. Median resection weight was 10 g (15th, 85th percentiles: 7, 15), and mean postoperative intraventricular gradient was 16 ± 10 mm Hg, with 625 (96%) patients achieving gradients 36 mm Hg or less. There were no iatrogenic mitral or aortic valve injuries. Permanent pacemaker placement was required in 38 patients (5.6%), of whom 8 (1.2%) had normal preoperative conduction. Operative mortality occurred in 1 patient (0.1%) after an intraoperative ventricular septal defect. CONCLUSIONS: Most patients undergoing septal myectomy for relief of obstruction required resection beyond the basal septum. With specialized instrumentation, detailed imaging and knowledge of variable septal anatomy, resecting midventricular and apical septal muscle can be safely and effectively achieved through a transaortic approach.

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 With a Sub-aortic Membrane: A Case Report.

Hypertrophic obstructive cardiomyopathy (HOCM) and subaortic membrane (SAS) are distinct cardiac conditions, but their coexistence presents complex diagnostic challenges. We report the case of a 52-year-old male with HOCM and a concurrent subaortic membrane, highlighting the intricacies of diagnosis and management. The patient's presentation included symptoms of dyspnea and chest tightness, and diagnostic evaluations revealed a unique combination of dynamic left ventricular outflow tract (LVOT) obstruction from HOCM and fixed obstruction from the subaortic membrane. This case emphasizes the importance of a comprehensive diagnostic workup to guide appropriate treatment decisions when managing multiple cardiac abnormalities.

Cardiac magnetic resonance analysis of left atrium function in patients with pre-apical hypertrophic cardiomyopathy.

Background: Patients presenting with unexplained T wave inversion on electrocardiogram combined with thickened left ventricular apex but less than 15 mm had been proposed as a preclinical scope of apical hypertrophy cardiomyopathy (pre-ApHCM). However, analysis of left atrial (LA) function in these patients has not been studied. This study aims to evaluate the LA function in pre-ApHCM patients and compare it with patients with ApHCM using cardiac magnetic resonance (CMR) imaging. Methods: In this retrospective case-control study, a total of 3,593 CMR reports from Beijing Anzhen Hospital, Capital Medical University, China were reviewed. Finally, 31 pre-ApHCM patients were identified and 40 ApHCM and 31 normal controls were included for comparison. LA volumetric and strain were analyzed by CMR. Two-tailed one-way ANOVA was used to analyze the difference of three groups. Pearson correlation test was used for correlation analysis. Results: All of the volumetric parameters in pre-ApHCM group were higher than those in control group. LA reservoir (LA total EF, εs) and conduit function (LA passive EF, εe) parameters, were significantly different among the three groups, which were the lowest in the ApHCM group, intermediate in the pre-ApHCM group, and the highest in the control group ((all P<0.001). Compared with the control group, the LA booster pump function, both the booster EF and booster pump strain (εa) in ApHCM were impaired (P=0.003 and P=0.002 respectively). Meanwhile, only the εa was impaired (P=0.016) while LA booster EF was not (P=0.064) in the pre-ApHCM group, neither εa nor the booster EF show difference between the ApHCM and pre-ApHCM (P=0.272 and P=0.518 respectively). Conclusions: LA function features in pre-ApHCM patients were similar to ApHCM but different from the normal controls. In pre-ApHCM and ApHCM patients, LA reservoir and conduit function impaired earlier before left atrium enlarged and decreased progressively as apex thickens. These findings may help to understand the LA functional change from pre-ApHCM to ApHCM, and to detect subclinical changes in patients with pre-ApHCM before overt hypertrophy or clinical symptoms develop.

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.

Ethnic and sex-related differences at presentation in apical hypertrophic cardiomyopathy: An observational cross-sectional study.

BACKGROUND: We investigated whether ethnicity and sex are associated with different clinical presentations and cardiovascular magnetic resonance (CMR) findings in individuals with apical hypertrophic cardiomyopathy (ApHCM). METHODS: A retrospective observational cohort study of consecutive ApHCM patients from a large tertiary referral center in the United Kingdom (UK). Demographic, clinical, 12­lead electrocardiogram (ECG) and CMR findings were collected. Participants presented in our clinics between 2010 and 2020. 'Pure' ApHCM was defined as isolated apical hypertrophy and 'mixed' with both apical and septal hypertrophy but with the apical segments of a greater wall thickness. Deep T-wave inversion was defined as ≥5 mm in any electrocardiogram lead. RESULTS: A total of 150 consecutive ApHCM patients (75% men, 25% women; 37% White, 25% Black, 24% Asian and 15% of Mixed/Other ethnicity) were included. Females were diagnosed at an older age compared to men, had less prominent ECG changes, had higher left atrial area index, and were more hypertensive. Black patients had higher left ventricular mass index, more hypertension, and more of the 'mixed' type of ApHCM. The majority of hypertensive male patients showed the 'mixed' phenotype. CONCLUSIONS: Individuals of Black ethnicity and hypertensive male patients are more likely to present with mixed apical and basal hypertrophy, whereas White, Asian and non-hypertensive male patients tend to have hypertrophy limited to the apex. Females present at an older age and are less likely to have deep T wave inversion on ECG.

Left ventricular apical hypertrophy emerged from the fourth-year post heart transplantation: Case report and literature review.

Apical hypertrophic cardiomyopathy (AHCM) is a relatively rare phenotype of hypertrophic cardiomyopathy, which is characterized by focal thickening of the left ventricular (LV) apical myocardium, showing a spade-shaped shadow on the left ventricle. We present the case of a 59-year-old man who was found to have AHCM, is an asymptomatic orthotopic heart transplantation (HTx) patient. This rare and progressive case of LV apical hypertrophy emerged from the fourth year post surgery. We analyzed the etiology of this case and summarized the clinical manifestations and prognosis of AHCM following HTx by reviewing our case and the literature.

Papillary muscle abnormality as an electrocardiographic mimicker of apical hypertrophic cardiomyopathy: a case report.

Background: Apical hypertrophic cardiomyopathy (ApHCM) is often associated with characteristic giant T wave inversions (GNT) in precordial leads without septal Q waves and increased QRS voltage on 12-lead electrocardiograms (ECGs). However, these electrocardiographic findings are not specific to ApHCM and can be mimicked by papillary muscle abnormalities. Differentiation between the two is important as the disease course, treatment, and prognosis differ substantially. Case summary: We report a case report of two such patients both of which presented with abnormal ECGs concerning for ApHCM. Echocardiogram did not show characteristic findings of ApHCM. Cardiac magnetic resonance imaging (MRI) showed apically displaced, hypertrophied papillary muscles responsible for electrocardiographic abnormalities. Discussion: Papillary muscle abnormalities including hypertrophy and/or apical displacement can result in giant negative T wave and increased QRS voltage like those seen in ApHCM and should be considered especially in otherwise healthy individuals with normal or near-normal transthoracic echocardiograms. Role of cardiac MRI is critical in this context and is the imaging modality of choice for accurate diagnosis.

Inappropriate Shocks With Subcutaneous Implantable Cardioverter-Defibrillator in a Young Patient: A Case Report.

Implantable cardioverter-defibrillators (ICDs) are increasingly used for the primary and secondary prevention of sudden cardiac death (SCD). Currently, transvenous (TV) and subcutaneous (S) ICDs are the two different types used. Preservation of central venous vasculature, no risk of vascular or myocardial injury during implant, easier explantation, and lower risk of systemic infections have driven the increased use of S-ICDs. The shocks delivered by ICDs for non-life-threatening arrhythmias or because of oversensing T waves or noise are known as inappropriate shocks. Here, we present the case of a 33-year-old man who had an S-ICD implanted in 2019 for hypertrophic cardiomyopathy. He had a TV-ICD implanted in 2010 which was explanted in 2013 due to infective endocarditis, and the patient underwent a mechanical mitral valve replacement. He was at intermediate risk for SCD over the next five years. He had an S-ICD implanted in 2019 and had never received any shock before. Electrocardiogram showed normal sinus rhythm, left axis deviation, QRS 110 ms, hyperacute T waves in inferior leads, and T-wave inversion in lateral leads. He then began experiencing inappropriate shocks three years after S-ICD placement due to a drop in R wave amplitude secondary to noise oversensing in October 2022. Despite reprogramming the device from the primary vector to an alternate vector, the patient had further inappropriate shocks two months later due to noise oversensing. The patient was discussed in a multidisciplinary team meeting and the S-ICD was explanted according to the patient's wishes and a loop recorder was implanted.

From Takotsubo to Yamaguchi.

Our patient was a 56-year-old Caucasian female who had 34 emergency department visits to our center with recurrent chest pain, of which eleven were of cardiac etiology, involving cardiac causes over the period of seven years. Her chest pain was diagnosed as atypical during her previous visits. Chest CT revealed "ace-of-spades" in the cardiac transverse section. A transthoracic echocardiogram (TTE) demonstrated apical hypertrophy with end-systolic cavity obliteration and an ejection fraction (EF) of 65%-70%, seated amidst a normal-sized left ventricle, with normal wall thickness, indicating Yamaguchi syndrome. In the case report, we portray the need to widen the spectrum of differentials in an encounter with a patient presenting with chest pain.

A Novel Case of Yamaguchi Syndrome in a Hispanic Male.

Yamaguchi syndrome or apical hypertrophic cardiomyopathy (HCM) is a unique variant of HCM. It is characterized by localized hypertrophy involving the left ventricular apex rather than the left ventricular septum. This syndrome has been traditionally seen in the Asian population, particularly those of Japanese descent. We present an interesting case of Yamaguchi syndrome seen in a Hispanic male. A 48-year-old Hispanic male presented with epigastric tenderness and was admitted to the hospital for a non-ST-segment elevation myocardial infarction. His diagnostic catheterization revealed no significant coronary artery disease. However, his echocardiogram revealed apical hypertrophy and narrowing of the left ventricular cavity at the apex, consistent with Yamaguchi syndrome. Case reports such as ours serve to help clinicians broaden their differential diagnoses when approaching patients with acute coronary syndrome-like symptoms to include diagnoses such as Yamaguchi syndrome.

A Giant Left Intraventricular Thrombus Associated With Apical Hypertrophic Cardiomyopathy Mimics Cancer.

Hypertrophic cardiomyopathy (HCM) is a common disease that can be acquired due to chronic hypertension or via autosomal dominant inheritance. Several patterns of HCM have been described, of which a rare variant is apical hypertrophic cardiomyopathy (AHCM). Atrial thrombus is a well-recognized complication of HCM especially in the setting of atrial fibrillation (AF). However, left ventricular thrombus (LVT) formation is not nearly as prevalent as atrial thrombus. Here is a case of a 57-year-old Hispanic female with AHCM who presented with significant unintentional weight loss and unexplained anemia and was subsequently found to have a large left intraventricular mass suspicious for a tumor vs. ventricular thrombus. The diagnosis was complicated due to the large size of the mass and presenting symptoms suspicious of malignancy.

Appearance of myocardial fibrosis during long-term follow up in a patient with apical hypertrophy.

A 67-year-old man without symptoms presented with significant negative T wave on electrocardiography. No significant abnormality was detected by echocardiography. Cardiac magnetic resonance imaging (CMR) showed trivial hypertrophied myocardium in apex. During follow up of 9 years, serial CMR scans revealed the appearance and expansion of late gadolinium enhancement in apex. The patient had never complained of cardiac symptoms such as chest pain, palpitation, or syncope during follow up. We experienced the appearance of significant myocardial fibrosis in a patient with apical hypertrophy. .

Left ventricular apical hypertrophy in a transplanted heart: a case report.

BACKGROUND: Left ventricular apical hypertrophic cardiomyopathy is a rare presentation of hypertrophic cardiomyopathy associated with thickening of the apical segment of the left ventricle. It was initially described in Japan in 1976 and is characterized by electrocardiogram findings showing giant T wave inversions in the precordial leads as well as a spade shaped appearance of the apical cavity on imaging (Abugroun et al., Cardiol Res 8:265-268, 2017). In this case, we present a patient with a heart transplant with a stable post-transplant course who was found to have apical hypertrophic cardiomyopathy. There have been a few cases of apical hypertrophy in a transplanted heart documented in the literature. Making this case even more unique is that this presentation is evident 17 years after heart transplantation. CASE PRESENTATION: Fifty-four year-old male with a history of orthotropic heart transplant in 2001 on immunosuppressive therapy presented with palpitations and associated lightheadedness. He had a blood pressure of 184/89 mmHg on arrival but otherwise had stable vital signs and physical examination. Cardiac biomarkers revealed a CK of 59 U/L and a troponin of 0.11NG/ML(normal < 0.04NG/ML). B type natriuretic peptide was 371 PG/ML(normal 0-100PG/ML). Routine laboratory studies demonstrated normal sodium, magnesium, serum creatinine, and a potassium of 3.3 mmol/L(normal 3.5-5.1 mmol/L). His hemoglobin and hematocrit were normal. His EKG showed sinus rhythm with old T wave inversions in the anterior and lateral leads. Echocardiogram revealed a left ventricular ejection fraction of 55-65%, left posterior wall of 1.3 cm and interventricular septal wall 1.2 cm, thickened trabeculated apex, with severely dilated left atrium. He had a stress test that showed mild inferior wall thinning and a cardiac MRI performed to further evaluate apical hypertrophy revealed prominent apical hypertrophy of the left ventricle with near obliteration of the apical cavity. He had no events on cardiac monitoring and was discharged with close followup with the transplant team. CONCLUSION: While there are many etiologies of ApHCM, it has not been well described in transplanted patients who are on chronic immunosuppressive therapy. It is unclear if these groups of patients are at an increased risk of developing this condition. The literature suggests that ApHCM is associated with a being prognosis but there is new data suggesting increased mortality in a subset of patients with this condition.

Incidental spade-shaped FDG uptake in the left ventricular apex suggests apical hypertrophic cardiomyopathy.

PURPOSE: Apical wall thickening with an "ace-of-spades" configuration is a unique sign of apical hypertrophic cardiomyopathy (AHCM). We investigated spade-shaped FDG uptake around the left ventricular apex (SSUA) incidentally found in routine oncological FDG PET. METHODS: Cases showing SSUA were selected based on retrospective review. The pattern or intensity of SSUA was compared with the results of electrocardiogram (ECG), echocardiography, and stress myocardial perfusion SPECT. The diagnosis of ACHM was based on the presence of giant negative T wave in ECG, thickness of spade-shaped hypertrophy in the apex in echocardiography, and increased tracer uptake in the apex in rest SPECT. RESULTS: Among the 34 patients in 36 PET scans showing SSUA, SSUA was weak in 17 and intense in 17. There were isolated SSUA (n = 29) and SSUA with diffuse or other focal left ventricular uptake (n = 5). Three patients with the latter uptake pattern turned out to have coexistence of AHCM and asymmetric septal hypertrophy. Of the 16 SSUA-positive patients who underwent echocardiography, 13 (81%) were diagnosed as AHCM and the remaining 3 were regarded as borderline AHCM (apical wall thickness, 14-15 mm). There were 16 patients with SSUA who also underwent PET scans after the study period among which 11 (69%) had persistent SSUA in the follow-up PET. In the remaining 5, follow-up PET scans showed diffuse left ventricular uptake and SSUA was barely visible. The intensity of SSUA was significantly or marginally associated with giant negative T wave (p < 0.01), apical asynergy (p = 0.08), and impaired coronary flow reserve (p < 0.05). There were no other factors correlated with the pattern or intensity of SSUA. CONCLUSION: SSUA incidentally found in oncological FDG PET appeared to be associated with AHCM, especially in ischemic conditions. The moderate repeatability of SSUA was probably due to obscurity by physiological uptake.

A case of transient apical hypertrophy associated with coronary vasospasm.

A 49-year-old woman was admitted to our hospital because of repeated loss of consciousness. On arrival, she was in cardiopulmonary arrest associated with arrhythmia of Torsades de pointes, and recovered from it after cardiopulmonary resuscitation and defibrillation. The administration of a ß-blocker and amiodarone was initiated to prevent ventricular tachycardia. On day 2, coronary angiography revealed non-obstructive coronary artery, and left ventriculography (LVG) exhibited hypokinesis in the anterior and apical wall. On day 20, an acetylcholine provocation test revealed a multivessel vasospasm, and LVG showed "spade-shaped left ventricle" in end-diastole because of apical hypertrophy. Transthoracic echocardiography (TTE) also showed apical wall thickness. Subsequent apical wall thickness gradually decreased and returned to normal on day 51 as observed on the TTE. Thus, we report a case of transient apical hypertrophy associated with coronary vasospasm, which was demonstrated by both the TTE and LVG. .

Differences in apical and non-apical types of hypertrophic cardiomyopathy: a prospective analysis of clinical, echocardiographic, and cardiac magnetic resonance findings and outcome from 350 patients.

AIMS: Apical hypertrophic cardiomyopathy (ApHCM) is thought to have a favourable clinical outcome, compared with other types of HCM. We sought to investigate the clinical and anatomical differences in cardiovascular imaging between ApHCM and non-ApHCM. METHODS AND RESULTS: A total of 350 patients diagnosed with HCM underwent cardiovascular magnetic resonance (CMR) and echocardiography. All enrolled subjects were prospectively followed up for adverse clinical outcomes. Eighty-five patients were classified as ApHCM. On CMR, the amount and proportion of late gadolinium enhancement (LGE) as well as left ventricular volumetric parameters were evaluated. Echocardiographic evaluations included diastolic function and global strain. Patients with ApHCM were less likely to present with history of syncope and have less frequency of family history of sudden cardiac death than those with non-ApHCM. Functional class was also more favourable in ApHCM [frequency of New York Heart Association (NYHA) class I; 89.4 vs. 66.8%, P < 0.001]. LGE was less frequently detected (87.1 vs. 93.9%, P = 0.04), and the amount of LGE was significantly smaller in ApHCM (7.0 ± 6.0 vs. 14.6 ± 10.5%, P < 0.001). The E/e' level and left atrial volume index were also lower in ApHCM patients (all P < 0.001). During follow-up, a composite of adverse clinical events including cardiac death, admission for heart failure, and cerebrovascular accident was higher in patients with ApHCM than those with non-ApHCM (P = 0.01). CONCLUSION: ApHCM showed a relatively small burden of myocardial fibrosis and less severe diastolic dysfunction and subsequently more favourable clinical manifestations in comparison with other HCMs. This may be one explanation of why most patients with ApHCM show a benign course of disease compared with non-ApHCM.