813 The added value of transthoracic three dimensional echocardiography in apical hypertrophic cardiomyopathy

We present the case of a 73-year-old patient with a recent diagnosis of hypertrophic cardiomyopathy (HCM). He was asymptomatic and has no family history of sudden cardiac death (SCD), syncope or ventricular arrhythmias. An echocardiogram performed at the moment of diagnosis (2020), showed left ventricular (LV) asymmetric apical hypertrophy with maximal wall thickness of 21 mm. Cardiac magnetic resonance (CMR) confirmed LV apical hypertrophy with mid-ventricular obliteration, and late gadolinium enhancement in the apical segments, without wall motion abnormalities present at rest. According to 2014 ESC guidelines, his calculated risk score for sudden cardiac death was low (1.23% at 5 years). On 2021, a comprehensive transthoracic echocardiographic examination including advanced techniques (three-dimensional echo-3DE-, and two-dimensional speckle-tracking-2DSTE) was done as part of his routine follow-up in our cardiomyopathy outpatient clinic. The echo study showed an asymmetric pattern of LV hypertrophy with a maximal wall thickness of 21 mm at the level of the anterolateral apical segment, normal LV volumes (end-diastolic volume 55 mL/m2) and ejection fraction (69%) by 3DE. LV longitudinal strain analysis by 2DSTE showed impaired LV myocardial deformation mainly at the apical LV segments (GLS = −13.6%). There was evidence of dynamic intracavitary obstruction (maximal gradient 32 mmHg at rest and raised to 52 mmHg during Valsalva manoeuvre). 3DE views of the LV (both multi-slice display and 3D rendered image) allowed to avoid foreshortening of the LV apical views, and to appreciate the actual wall motion at the real LV apex. They revealed a LV apical aneurysm which was not detected in the conventional LV-focused apical 2D views (Figure 1A and B). Apical hypertrophic cardiomyopathy (ApHCM) is a variant of HCM that is characteristic of focal thickening of the LV apical myocardium and was reported to have a more benign course than other non-apical forms. However, the presence of LV aneurysm in ApHCM patients is associated with an increased risk for ventricular arrhythmias, sudden cardiac death and thromboembolism. Accordingly, the detection of apical LV aneurysms has significant impact on patient management. Guidelines recommend the use of contrast echocardiography or CMR when the apical region of the LV is suboptimally visualized by conventional 2D echocardiography. However, contrast echocardiography may still be affected by apical foreshortening resulting in suboptimal accuracy, as it is a 2D technique. On the other end, CMR may be contraindicated or not widely available for routine yearly follow-up for all HCM patients requiring regular imaging follow-up. Our clinical case emphasizes the added value of 3DE to increase the sensitivity of transthoracic echocardiography in detecting apical LV aneurysms in patients with apical HCM with important clinical implications for the management of the patient. 813 Figure 1(A) 2D 4chamber-view showing maximal wall thickness in the apical segments (21 mm) with apical obliteration. At a first evaluation, apical aneurism is not easily detected. (B) 4D rendering of the apex showing the apical aneurism.

Extended myectomy for apical hypertrophic cardiomyopathy: a case report

Background Apical hypertrophic cardiomyopathy is a variant of hypertrophic cardiomyopathy that predominantly affects the apex of the left ventricle and rarely involves the right ventricular apex or both apexes. Heart transplantation is the traditional treatment for apical hypertrophic cardiomyopathy. Although surgical myectomy approaching the apex has been available for decades, its safety and accuracy greatly depend on the surgeon’s skills and experience. Case presentation The first case involved a 63-year-old man with apical hypertrophic cardiomyopathy, wherein preoperative contrast computed tomography findings revealed apical hypertrophy and complete apical cavity obliteration. The patient underwent extended myectomy, which revealed the apex cavity filled with abnormal muscles. Using the transaortic approach, the location of the bilateral papillary muscle was confirmed, thereby providing the required orientation. The abnormal muscle mass was successfully resected, and the postoperative end-diastolic volume was extremely increased. The second case involved a 43-year-old man with an apical left ventricular aneurysm and mid-hypertrophic cardiomyopathy obstruction. The thin-walled apical aneurysm contained a large apical-basal band. Upon detecting the bilateral papillary muscle, mid-ventricular myectomy was performed from the apex. During postoperative catheterization, there was no pressure gradient between the left ventricle and aorta. Conclusions We reviewed two cases of apical hypertrophic cardiomyopathy, efficiently treated using extended apical myectomy. Although it is an uncommon procedure, the cases presented show how it can be used to successfully manage cases of apical hypertrophic cardiomyopathy. However, it is important to secure the postoperative left ventricular end-diastolic volume.

Left Ventricular Apical Hypertrophy (Yamaguchi Disease)

Apical Hypertrophic Cardiomyopathy (Ap-HCM) also known as Yamaguchi Disease is characterized by limited involvement of the left ventricular (LV) apex. It can present with typical ischaemic chest pain, dyspnoea and arrhythmias. We report the case of patient with ischaemic chest pain who was diagnosed with Ap-HCM at the time of coronary angiography. We share representative images from his cardiac evaluation.

Race, gender and clinical presentation in apical hypertrophic cardiomyopathy

Funding Acknowledgements Type of funding sources: None. Background The apical variant of hypertrophic cardiomyopathy (ApHCM) has male predominance and is a relatively rare phenotype in Western population. Characteristics of female and black patients diagnosed with ApHCM are very limited in the existing literature. Purpose We aimed to investigate whether gender and race are associated with a different clinical presentation and CMR findings in apical HCM. Methods We retrospectively analysed 150 patients (113 males and 37 females) with a diagnosis of apical HCM who have been followed in our inherited cardiac conditions (ICC) clinic between 2010 and 2020. Only patients with a CMR study and apical hypertrophy defined as ≥ 13mm at the time of diagnosis were included. Demographics and clinical characteristics were obtained from electronic records. Volumetric CMR data were taken from confirmed reports while other parameters were measured by standard protocol. "Pure" ApHCM was defined as isolated apical hypertrophy and "mixed" with both apical and septal hypertrophy but with the apex thickest (1). Apical displacement of papillary muscles (PM) was defined when the base of PM originated from the apical one-third of the left ventricle (LV) in the apical 4- or 2-chamber views. Giant T-wave inversion was defined as T-wave inversion that is equal or greater than 10 mm (1 mV) in any electrocardiogram lead. Results Our study population included patients of White (55, 37%), Black (37, 25%), Asian (36, 24%) and Mixed/Others (22, 15%) ethnicity. Black patients were more likely to have a diagnosis of hypertension at presentation when compared to White (70% vs 40%, p = 0.01) and to Asian and Mixed/Other patients (70% vs 48%, p = 0.03). Similarly, they were more likely to have "mixed" ApHCM than White (49% vs 20%, p = 0.003) and Asian and Mixed/Other (49% vs 26%, p = 0.02) patients. Females were diagnosed at an older age (63 ± 12 vs 52 ± 14, p < 0.001) and were less likely to have deep T-wave inversion on their ECG at presentation (14% vs 32%, p = 0.03) compared to their male counterparts. Females in this cohort also had higher representation of black ethnicity and were more likely to have hypertension (68% vs 47%, p = 0.03). Apart from the expected gender related differences in volumes and LV mass, there were no differences in cardiomyopathy-specific parameters we investigated. Conclusions In our cohort, females with ApHCM presented at an older age and were less likely to have giant T-wave inversion on ECG. Black patients with ApHCM were more likely to have hypertension and the "mixed" type of the disease.

Dimensional Assessment of the Heart in Hypertrophic Cardiomyopathy Patients in Tertiary Care Hospitals

Hypertrophic cardiomyopathy (HCM) is one of the most prevalent disorders responsible for sudden cardiac death. Presentation of the symptoms varies due to the degree of thickening, and functional ability of the cardiomyocytes. The aims of the current study were to assess the clinical features, and cardiac morphology. This was a descriptive study with some analytical components. Thirty-four adult HCM patients were included within a duration of four months by patient selection checklist. After informed written consent, relevant information was noted and analyzed. Frequency distribution of phenotypes were, 56% asymmetric septal hypertrophy, 29% concentric hypertrophy, and 15% apical hypertrophy. Breathlessness and chest discomfort were present in 56% and 62% patients respectively, and higher in asymmetric septal HCM. Palpitation was very frequent in concentric HCM (90%). ECG revealed left ventricular hypertrophy in 85% of patients, and 79% of them had ST change. The interventricular septal thickness was narrower in apical type (14.80mm). The posterior wall thickness was higher in concentric HCM (19.20mm). The left atrial size was smaller in Concentric type(34.60mm).

Severe Eosinophilia Associated with FIP1L1/PDGFRA Rearrangement Presenting with Yamaguchi Syndrome

FIP1L1/PDGFRA is a rare genetic rearrangement, presenting most commonly as Chronic Eosinophilic Leukemia (CEL), but may also be associated with other myeloid and lymphoid neoplasms. The peripheral blood and bone marrow exhibit a striking eosinophilia, often associated with an increased number of mast cells on trephine biopsy. Tissue infiltration by eosinophils and release of cytokines from eosinophilic granules mediate multi-organ tissue damage. The tyrosine kinase inhibitor Imatinib has been shown to induce rapid and complete clinical and haematological responses in patients harboring the mutation. We present the case of a young patient with CEL associated with PDGFRA rearrangement, presenting with severe eosinophilia and evidence of multi-organ damage (cardiac, renal, endocrine and respiratory). The peripheral blood and bone marrow displayed a striking eosinophila, and FISH analysis for FIP1L1/PDGFRA revealed a positive fusion signal in 92% of the nuclei examined. Echocardiography showed left ventricular apical hypertrophy (Yamaguchi syndrome), which has previously not been reported in this subset of patients. He was managed with supportive care, along with low-dose imatinib (100mg/day initially), to which he achieved a rapid clinical and haematological response. Currently, five months from the initial diagnosis, he is doing well on low dose imatinib (100 mg) twice a week.

Extended Myectomy for Apical Hypertrophic Cardiomyopathy: A Case Report

BackgroundApical hypertrophic cardiomyopathy is a variant of hypertrophic cardiomyopathy that predominantly affects the left ventricle apex and rarely involves the right ventricular apex or both apexes. Traditional treatment for apical hypertrophic cardiomyopathy is heart transplantation. Although surgical myectomy approaching the apex has been available for decades, its safety and accuracy greatly depend on the surgeon’s skills and experience.Case presentationThe first case is of a 63-year-old man with apical hypertrophic cardiomyopathy in whom a preoperative contrast computed tomography revealed apical hypertrophy and complete apical cavity obliteration. The patient underwent extended myectomy. The inside of the apex cavity was filled with abnormal muscles. Using the transaortic approach, the location of the bilateral papillary muscle was confirmed, which provided the required orientation. The abnormal muscle mass was successfully resected, and postoperative end-diastolic volume was extremely increased. The second case is of a 43-year-old man with an apical left ventricular aneurysm and mid- hypertrophic cardiomyopathy obstruction. The thin-walled apical aneurysm contained a large apical-basal band. After detecting the bilateral papillary muscle, mid-ventricular myectomy was performed from the apex. During postoperative catheterization, there was no pressure gradient between the left ventricle and aorta.ConclusionsWe reviewed two cases of apical hypertrophic cardiomyopathy, efficiently treated using extended apical myectomy. Although apical myectomy is an uncommon procedure, the cases presented herein show that it can successfully manage apical hypertrophic cardiomyopathy. However, it is important to secure the postoperative left ventricular end-diastolic volume.

Apical hypertrophic cardiomyopathy associated with circumflex to left ventricular fistulae: a case report of two rare subtypes of rare conditions occurring together

Background Coronary arterial fistulae are rare yet have been associated with hypertrophic cardiomyopathy (HCM). We present a patient who was found to have a left circumflex (LCx) to left ventricular (LV) fistula in combination with apical HCM. Case summary A 72-year-old female presented with syncope after exercise. She sustained facial injuries including fracture of her nasal bones. There were no previous episodes, no cardiac history, and she denied chest pain or anginal symptoms. Electrocardiogram showed sinus rhythm with T-wave inversion throughout the chest leads. Echocardiography suggested apical HCM with hypertrophy of the LV apex but good systolic function. This was confirmed on cardiac magnetic resonance imaging with a characteristically spade-shaped LV cavity. Coronary angiography demonstrated a distal LCx to LV fistula from the apical hypertrophy but no coronary artery disease. She was started on beta-blockers and has had no further episodes, remaining well. Discussion Coronary fistulae are present in 0.002% of the population but clinical outcomes are poorly understood. The majority are asymptomatic but anginal chest pains can occur through the ‘coronary steal’ phenomenon. Apical HCM is a subtype of HCM characterized by spade-shaped LV cavity obliteration. It is unclear whether the association between fistulae and HCM occur because of the increased vascularization and fibrosis associated with HCM or whether congenital malformation leads to hypertrophy. Both can produce a constellation of cardiac symptoms. Our patient has the previously unreported combination of apical HCM and an LCx fistula; two rarer subtypes of rare conditions appearing together.