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.

Differentiation between athlete's heart and dilated cardiomyopathy in athletic individuals.

OBJECTIVE: Distinguishing early dilated cardiomyopathy (DCM) from physiological left ventricular (LV) dilatation with LV ejection fraction <55% in athletes (grey zone) is challenging. We evaluated the role of a cascade of investigations to differentiate these two entities. METHODS: Thirty-five asymptomatic active males with DCM, 25 male athletes in the 'grey zone' and 24 male athletes with normal LV ejection fraction underwent N-terminal pro-brain natriuretic peptide (NT-proBNP) measurement, ECG and exercise echocardiography. Grey-zone athletes and patients with DCM underwent cardiovascular magnetic resonance (CMR) and Holter monitoring. RESULTS: Larger LV cavity dimensions and lower LV ejection fraction were the only differences between grey-zone and control athletes. None of the grey-zone athletes had abnormal NT-proBNP, increased ectopic burden/complex arrhythmias or pathological late gadolinium enhancement on CMR. These features were also absent in 71%, 71% and 50% of patients with DCM, respectively. 95% of grey-zone athletes and 60% of patients with DCM had normal ECG. During exercise echocardiography, 96% grey-zone athletes increased LV ejection fraction by >11% from baseline to peak exercise compared with 23% of patients with DCM (p<0.0001). Peak LV ejection fraction was >63% in 92% grey-zone athletes compared with 17% patients with DCM (p<0.0001). Failure to increase LV ejection fraction >11% from baseline to peak exercise or achieve a peak LV ejection fraction >63% had sensitivity of 77% and 83%, respectively, and specificity of 96% and 92%, respectively, for predicting DCM. CONCLUSION: Comprehensive assessment using a cascade of routine investigations revealed that exercise stress echocardiography has the greatest discriminatory value in differentiating between grey-zone athletes and asymptomatic patients with DCM. Our findings require validation in larger studies.

Late gadolinium enhancement in Brugada syndrome: A marker for subtle underlying cardiomyopathy?

BACKGROUND: There is increasing evidence that the Brugada ECG pattern is a marker of subtle structural heart disease. OBJECTIVE: The purpose of this study was to characterize patients with Brugada syndrome (BrS) using cardiovascular magnetic resonance (CMR) with late gadolinium enhancement (LGE). METHODS: BrS was diagnosed according to international guidelines. Twenty-six percent of patients with BrS carried SCN5A mutations. CMR data from 78 patients with BrS were compared with 78 healthy controls (44 ± 15 vs 42 ± 14 years; P = .434; and 64% vs 64% male; P = 1). RESULTS: Right ventricular (RV) ejection fraction was slightly lower (61 ± 8% vs 64 ± 5%; P = .004) and RV end-systolic volume slightly greater (31 ± 10 mL/m2 vs 28 ± 6 mL/m2; P = .038) in BrS compared with controls. These values remained within the normal range. LGE was demonstrated in 8% of patients with BrS (left ventricular midwall LGE in 5%) but not in controls (P = .028). In patients with BrS with midwall LGE there were no other features of cardiomyopathy at the time of CMR, but genetic testing and follow-up revealed a desmoplakin mutation in 1 patient and evolution of T-wave inversion throughout all precordial ECG leads in another. Neither patient fulfils diagnostic criteria for arrhythmogenic right ventricular cardiomyopathy. CONCLUSION: Some patients with BrS have left ventricular midwall LGE consistent with an underlying cardiomyopathic process. Even cases without LGE show greater RV volumes and reduced RV function. These findings lend further support to the presence of subtle structural abnormalities in BrS. The BrS pattern with LGE may serve as early markers for evolution of a cardiomyopathic phenotype over time. CMR is a potentially useful adjunct investigation in the clinical evaluation of BrS.

Patient-specific computational fluid dynamics-assessment of aortic hemodynamics in a spectrum of aortic valve pathologies.

OBJECTIVES: The complexity of aortic disease is not fully exposed by aortic dimensions alone, and morbidity or mortality can occur before intervention thresholds are met. Patient-specific computational fluid dynamics (CFD) were used to assess the effect of different aortic valve morphologies on velocity profiles, flow patterns, helicity, wall shear stress (WSS), and oscillatory shear index (OSI) in the thoracic aorta. METHODS: A total of 45 subjects were divided into 5 groups: volunteers, aortic regurgitation-tricuspid aortic valve (AR-TAV), aortic stenosis-tricuspid aortic valve (AS-TAV), aortic stenosis-bicuspid aortic valve right-left cusp fusion (BAV[RL]), and aortic stenosis-right-non cusp fusion (AS-BAV[RN]). Subjects underwent magnetic resonance angiography, with phase-contrast magnetic resonance imaging at the sino-tubular junction to define patient-specific inflow velocity profiles. Hemodynamic recordings were used alongside magnetic resonance imaging angiographic data to run patient-specific CFD. RESULTS: The BAV groups had larger mid-ascending aorta diameters (P < .05). Ascending aorta flow was more eccentric in BAV (flow asymmetry = 78.9% ± 6.5% for AS-BAV(RN), compared with 4.7% ± 2.1% for volunteers, P < .05). Helicity was greater in AS-BAV(RL) (P < .05). Mean WSS was elevated in AS groups, greatest in AS-BAV(RN) (37.1 ± 4.0 dyn/cm2, compared with 9.8 ± 5.4 for volunteers, P < .05). The greater curvature of the ascending aorta experienced highest WSS and lowest OSI in AS patients, most significant in AS-BAV(RN) (P < .05). CONCLUSIONS: BAV displays eccentric flow with high helicity. The presence of AS, particularly in BAV-RN, led to greater WSS and lower OSI in the greater curvature of the ascending aorta. Patient-specific CFD provides noninvasive functional assessment of the thoracic aorta, and may enable development of a personalized approach to diagnosis and management of aortic disease beyond traditional guidelines.