BACKGROUND:Apical aneurysms in hypertrophic cardiomyopathy (HCM) have been linked to sudden cardiac death (SCD) and a nidus for thromboembolism. Uncertainty remains regarding the level of risk and significance of aneurysm size. OBJECTIVES:The objective of the study was to determine the rate of SCD events and prevalence of apical thrombus or embolic events by size (maximum transverse dimension). METHODS:Apical aneurysms were identified in 510 patients from 10 centers, followed a median of 4.1 years for SCD events (SCD, appropriate implantable cardioverter defibrillator therapy, and resuscitated SCD) or development of apical thrombus/thromboembolism. Relationship between size and SCD events was analyzed using multivariable Cox proportional hazard models. RESULTS:In 510 HCM patients: 19% had small aneurysms (<10 mm), 39% medium (10-19 mm), 39% large (20-39 mm), and 3% very large (≥40 mm). SCD event rate was 2.1%/year, with risk increasing with increasing aneurysm size: 0.2%/year in small, 2.3%/year in medium, 3.0%/year in large and 8.2%/year in very large (P < 0.001). On multivariable analysis, greater size was associated with SCD events, independent of other risk markers or European Society of Cardiology-SCD score. Either an embolic event (3.6% of patients) or apical thrombus (10% of patients) occurred in 13% of patients and was independently associated with greater aneurysm size, 3% in small to 25% in very large aneurysms (P < 0.001). CONCLUSIONS:In a large cohort of HCM patients with apical aneurysms, rates of SCD events were high, with continuous relationship between size and risk. Small aneurysms (<10 mm) were associated with low risk for SCD events (0.2%/year), whereas aneurysms ≥10 mm with high risk (>2%/year). Although embolic events were uncommon, increasing aneurysm size was associated with the prevalence of apical thrombi.

Background:To evaluate whether the left atrium (LA) phasic function and myocardial deformation by cardiovascular magnetic resonance (CMR) in hypertrophic cardiomyopathy (HCM) patients is a predictor of atrial fibrillation (AF) development. Methods:The baseline CMRs of HCM patients who later developed AF (n = 140; mean age = 61 ± 12 years; male = 86) were compared with those of HCM patients who did not develop AF (n = 70; mean ag e= 58 ± 11 years; male patients = 48). This case-control study was conducted at our quaternary referral centre between January 2001 and June 2021. The univariate and multivariable Cox proportional hazards model was used to assess the correlation between clinical and imaging parameters vs the likelihood of developing AF. Results:Compared to the non-AF cohort, HCM patients with AF had larger baseline LA volumes and lower LA strain and LA strain rates. Maximum left ventricular (LV) wall thickness, absolute and indexed LV mass, and indexed LV end-diastolic volume were larger in patients with AF vs the non-AF group. LV ejection fraction assessed by CMR along with late gadolinium enhancement prevalence and pattern was similar between patients with vs without AF.LA booster strain (5.8 ± 3.4 in the AF group vs 11.4 ± 4.2 in the non-AF group, P < 0.00001) and total LA ejection fraction (32.9 ± 12.8 in the AF group vs 44.0 ± 9.3 in the non-AF group, P < 0.00001) were significantly worse at baseline in the AF group. No significant relationship was present between markers of LV disease burden and AF. Conclusions:LA booster strain and total LA ejection fraction at baseline CMR correlated with AF development in HCM patients.

ABSTRACT Background & Aims The heterogeneous phenotype of hypertrophic cardiomyopathy (HCM) is still not fully understood. Clonal haematopoiesis (CH) is emerging as a cardiovascular risk factor potentially associated with adverse clinical events. The prevalence, phenotype and outcomes related to CH in HCM patients was evaluated. Methods Patients with HCM and available biospecimens from the Peter Munk Cardiac Centre Cardiovascular Biobank were subjected to targeted sequencing for 35 myeloid genes associated with CH. CH prevalence, clinical characteristics, morphological phenotypes assessed by echocardiogram and cardiac magnetic resonance and outcomes were assessed. All patients were evaluated for a 71-plex cytokines/chemokines, troponin I and B-type natriuretic peptide analysis. Major cardiovascular events (MACE) were defined as appropriate ICD shock, stroke, cardiac arrest, orthotopic heart transplant and death. Results Among the 799 patients, CH was found in 183 (22.9%) HCM patients with sarcomeric germline mutations. HCM patients with CH were more symptomatic and with a higher burden of fibrosis than those without CH. CH was associated with MACE in those HCM patients with sarcomeric germline mutations [adjusted HR of 3.46 (95% CI 1.25-9.52; p=0.016)], with the highest risk among those that had DNMT3A, TET2 and ASXL1 mutations [adjusted HR of 7.23 (95% CI 1.79-29.13) p=0.005]. Several cytokines (IL-1ra, IL-6, IL-17F, TGFa, CCL21, CCL1, CCL8, and CCL17), and troponin I were upregulated in gene-positive HCM patients with CH. Conclusions These results indicate that CH in patients with HCM is associated with worse clinical outcomes. In the absence of CH, gene-positive patients with HCM have lower rates of MACE. KEY POINTS Question Does clonal haematopoiesis (CH) affect the phenotype and outcomes among hypertrophic cardiomyopathy (HCM) patients? Findings Among 799 patients, CH was found in 183 (22.9%) HCM patients. CH was associated with symptoms, a higher burden of fibrosis and major cardiovascular events. Several cytokines and troponin I were upregulated in gene-positive HCM patients with CH. Meaning CH helps to identify those HCM patients at risk for serious adverse events and unveils a potential inflammatory response mechanism that affects prognosis.

Background: The optimal management of hypertrophic cardiomyopathy (HCM) patients with postoperative atrial fibrillation (POAF) after surgical myectomy remains unknown. We sought to investigate the association between POAF and atrial fibrillation (AF) or cardioembolic events during follow-up to bridge this gap.Methods: Patients undergoing surgical myectomy at 2 HCM referral centres in North America from 2002 to 2020 were included in this study. Patients with preoperative AF were excluded. POAF was defined as any episode of AF within 30 days after surgery.Results: Of 1176 patients, 375 (31.9%) had POAF. Age (adjusted hazard ratio [HR] 1.05, 95% confidence interval [CI] 1.03-1.06; P < 0.001), premyectomy left atrial diameter (LAD; adjusted HR 1.6, 95% CI 1.32-2.02; P < 0.001), and smoking (adjusted HR 1.60, 95% CI 1.17-2.20; P = 0.001) were associated with POAF on multivariable analysis. Of 934 patients with follow-up data, of duration 4.3 +/- 4.1 years, AF was detected in 86 (9.2%). Only POAF (HR 4.20, 95% CI 2.44-7.23; P < 0.001), previous history of stroke (HR 4.81, 95% CI 1.63-14.17; P = 0.01), and postmyectomy LAD (HR 1.80, 95% CI 1.21-2.70; P = 0.004) were associated with AF incidence during follow-up. Cardioembolic events occurred in only 15 patients (1.6%). POAF was not associated with increased cardioembolic risk, with only 3 patients with POAF suffering such an event, all more than 4 years after surgery.Conclusions: POAF is common in HCM patients undergoing myectomy and is a predictor of AF during follow-up. Over long-term follow-up, cardioembolic events are uncommon. These findings suggest that routine long-term anticoagulation for all HCM patients with post-myectomy AF is not justified after the initial postoperative period.

BACKGROUND:Left ventricular (LV) apical aneurysms in hypertrophic cardiomyopathy (HCM) are a recognized risk marker for adverse cardiovascular events. There is variable practice among clinicians and discordance between international guidelines regarding treatment recommendations and prognostication for this important phenotype.OBJECTIVES:The authors sought to describe the morphology, clinical course, and risk of adverse events in a large single-center cohort of HCM patients with LV apical aneurysms.METHODS:This study analyzed 160 HCM patients with an LV apical aneurysm who were evaluated in our dedicated HCM clinic between January 1997 and April 2021.RESULTS:Mean age was 59.1 ± 13.6 years, and 71% of these patients were male. Mean aneurysm size was 1.77 ± 1.04 cm. Over 6.2 ± 4.8 years, 14 (9%) patients had a sudden cardiac death (SCD) event, including appropriate therapy from an implantable cardioverter-defibrillator (ICD) or resuscitation from cardiac arrest (annualized event rate 1.77%/y), 39 (24%) had either a thromboembolic stroke or apical thrombus formation (2.9%/y), and 14 (9%) developed LV systolic dysfunction with an ejection fraction (EF) <50% (1.28%/y). HRs for SCD, stroke or thrombus, and EF <50% per 1-cm increase in aneurysm size were 1.69 (P = 0.007), 1.60 (P = 0.0002), and 1.63 (P = 0.01), respectively. Aneurysm size ≥2 cm was associated with a 5-year SCD rate of 9.7%, compared with 2.9% for aneurysm size <2 cm (log-rank P = 0.037). This subgroup also had higher risk of stroke/thrombus formation (HR: 2.20; P = 0.002), with an annualized event rate of 2.7%/year. A total of 39 (24%) patients reached the combined end point of SCD, stroke, or LV dysfunction (2.12%/y) with an HR of 1.47/cm increase in aneurysm size (P = 0.003) and an HR of 2.22 for patients with aneurysm size ≥2 cm (P = 0.02).CONCLUSIONS:Increasing aneurysm size confers poorer prognosis. Aneurysm size ≥2 cm should alert potential consideration for prophylactic anticoagulation and primary prevention ICDs.

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Background: Left ventricular (LV) apical aneurysm is a unique morphological entity and novel adverse risk marker existing within the broad phenotypic spectrum of hypertrophic cardiomyopathy (HCM). Its true prevalence in the HCM population is likely underestimated because of inherent limitations of conventional noncontrast echocardiography. The authors hypothesized that contrast echocardiography is a reliable imaging technique compared with cardiovascular magnetic resonance (CMR) for the detection of apical aneurysms. The aim of this study was to assess the effectiveness of contrast echocardiography in the detection of LV apical aneurysms in patients with HCM in comparison with the gold standard, CMR. Methods: One hundred twelve patients with HCM identified from an institutional clinical database, who underwent echocardiographic and CMR examinations within 12 months and had LV apical aneurysms identified on either or both imaging modalities, were retrospectively analyzed. Discordant cases were reviewed by an expert panel, and a consensus was reached regarding the presence or absence of an apical aneurysm. The reason for any discrepancy was recorded. Results: The mean age of the patients was 59 +/- 13 years, and 73% were men. Sixty-four (57%) underwent contrast echocardiography. The median interval between echocardiography and CMR was 118 days (interquartile range, 61-237 days). Thirty-nine patients (35%) had discordance between echocardiographic and CMR findings, of whom 20 had aneurysms reported on echocardiography but not CMR and 19 vice versa. Upon reanalysis by the expert panel, aneurysms were initially missed on CMR in 16 patients (80%), largely because of interpretation error secondary to small aneurysms, with a mean aneurysm size of 0.82 +/- 0.38 cm in these cases. Before secondary review by the expert panel, contrast echocardiography had sensitivity of 97% compared with 85% for CMR (P = .0198) and 64% for noncontrast echocardiography (P = .0001). After secondary review, contrast echocardiography had sensitivity of 98% compared with 67% for noncontrast echocardiography (P = .0001) and 97% for CMR (P = 1.00). Conclusions: Contrast echocardiography has high sensitivity for detecting LV apical aneurysms and should be used routinely in the evaluation and risk stratification of patients with HCM. (J Am Soc Echocardiogr 2021;34:1262-72.)

Hypertrophic cardiomyopathy (HCM) is a familial heart muscle disease characterized by a diverse clinical and phenotypic spectrum that is usually identified in the second through fifth decades of life.1,2 Since its early descriptions in 1957,3,4 HCM has been increasingly recognized in older patients. However, studies suggest that the condition takes a different form when first diagnosed in this age group and may ultimately represent a disease entity that is distinct from that which predominates in the young.2,5–10

BACKGROUND:Isolated aortic infection is rare and is typically associated with an underlying aortic aneurysm or a prosthetic aortic graft.CASE SUMMARY:A 38-year-old woman was admitted with symptoms of left upper limb ischaemia and had imaging findings suggestive of thrombus extending from the ascending aorta into the subclavian and brachial arteries. She underwent evacuation of the aortic masses and replacement of the ascending aorta. Citrobacter koseri was isolated from the excised tissue and the patient received 6 weeks of appropriate antibiotic therapy.DISCUSSION:This is an unusual case of acute upper limb ischaemia due to a mass infected with Citrobacter koseri in the ascending aorta without heart valve involvement.

A 59-year-old lady presented with a 1-week history of orthopnoea, paroxysmal nocturnal dyspnoea, night sweats and a productive cough. She had no recent history of travel. Transthoracic echocardiogram revealed preserved left ventricular systolic function with abnormal pericardial thickening and restrictive left ventricular filling consistent with pericardial constriction. Cardiac magnetic resonance imaging confirmed a globally thickened pericardium and showed evidence of pericardial inflammation and constrictive physiology. She did not respond to diuresis, pulsed intravenous steroids or broad spectrum antibiotics and multiple investigations were negative, including autoimmune screen and tuberculosis cultures. Eventually a serum sample was found to be positive for Strongyloides stercoralis and it emerged that this lady had travelled to Egypt 8 years previously, where it is thought that she contracted S stercoralis leading to her developing constrictive pericarditis. This case report summarises the presentation and progression of this case and rare diagnosis.

Pulmonary embolism (PE) is a common cardiovascular emergency, by which occlusion of a part of the pulmonary arterial bed may lead to acute life threatening but potentially reversible right ventricular failure. Early diagnosis is fundamental to implement immediate effective treatment to reduce mortality. However, the diagnosis can be easily missed due to non-specific clinical presentation. We wish to present an unusual case whereby a patient with no risk factors for PE, symptoms suggestive of acute pericarditis and an ECG showing concave ST segment elevation was found to have multiple pulmonary emboli.