Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations.

MYH7-related disease (MRD) is the most common hereditary primary cardiomyopathy (CM), with pathogenic MYH7 variants accounting for approximately 40% of familial hypertrophic CMs. MRDs may also present as skeletal myopathies, with or without CM. Since pathogenic MYH7 variants result in highly variable clinical phenotypes, from mild to fatal forms of cardiac and skeletal myopathies, genotype-phenotype correlations are not always apparent, and translation of the genetic findings to clinical practice can be complicated. Data on genotype-phenotype correlations can help facilitate more specific and personalized decisions on treatment strategies, surveillance, and genetic counseling. We present a series of six MRD pedigrees with rare genotypes, encompassing various clinical presentations and inheritance patterns. This study provides new insights into the spectrum of MRD that is directly translatable to clinical practice.

Incremental Value of Transesophageal Echocardiography Integrated with Transthoracic Echocardiography in the Assessment of Aortic Stenosis Severity.

BACKGROUND: Transthoracic echocardiography (TTE) is the standard method for evaluating the severity of aortic stenosis (AS), while transesophageal echocardiography (TEE) is useful for morphologic characterization. The study aim was to assess the impact of complementary TEE to TTE in refining hemodynamic assessment of AS severity. METHODS: A retrospective analysis was conducted of sequential TTE and TEE studies performed in 100 patients with moderate or severe AS confirmed on prior TTE. The left ventricular outflow tract (LVOT) velocity-time-integral (VTI1) and the aortic valve velocity-time integral (VTI2) were measured for both modalities. The highest values of VTI1 and VTI2 and mean gradients and peak velocities were selected from the sequential TTE/TEE study for indexed aortic valve area (AVAi) calculation and AS severity determination through an integrated assessment. RESULTS: AVAi determined by TTE was not significantly different from that determined by TEE (mean difference -0.008 cm2; p = 0.38). The dimensionless velocity index (DVI) was higher when assessed by TTE than by TEE (mean difference 0.0126 ± 0.04; p = 0.003). Using the integrated AS assessment, six of 13 patients with a TTE-based diagnosis of moderate AS were re-classified as severe AS. A slight lowering of the recommended TTE-derived DVI threshold for severe AS, from 0.25 to 0.24, improved the ability to discriminate moderate versus severe AS, as determined by the integrated assessment. CONCLUSIONS: TEE integrated with TTE may improve the detection of severe AS, particularly in patients with moderate AS criteria assessed by TTE, but with a DVI ratio ≤0.24.

Prevalence of Late Functional Tricuspid Regurgitation in Degenerative Mitral Regurgitation Surgery.

BACKGROUND: Although significant late tricuspid regurgitation (TR) may develop after surgery for degenerative mitral regurgitation (MR), the use of routine tricuspid annuloplasty is debatable. The study aim was to determine the prevalence and predictors of significant late TR after surgery for degenerative MR. METHODS: A total of 112 patients who had undergone surgery for degenerative MR without concomitant tricuspid valve repair (average follow up 7.7 ± 4.0 years) was studied retrospectively. The prevalence of post-surgical TR and predictors of progression were determined. RESULTS: The majority of patients (97%) had non-significant TR (less than moderate) prior to surgery, although an overall trend of progression towards significant TR (grades 2 or 3) was noted in 17 patients (p = 0.0006). Of the 18 patients (16%) with late postoperative significant TR, only nine (8%) had severe TR with only a single referral to surgery. New-onset post-surgical atrial fibrillation was more common in patients who developed late significant TR (p = 0.002). Multivariate analysis of the pre-surgery variables, age >65 years and left ventricular dysfunction were shown to be independent predictors of late functional TR. CONCLUSIONS: Significant progression in TR after surgery for degenerative MR was rare in this patient cohort. The impact of older age and left ventricular dysfunction at the time of surgery showed a strong association with post-surgical atrial fibrillation.

Dynamic T-Wave Inversion: Unraveling an Athlete's Heart Mystery.

A 17-year-old athlete was initially diagnosed with presumed hypertrophic cardiomyopathy, marked by deep inferolateral T-wave inversions and mild anteroseptal hypertrophy on electrocardiogram and imaging studies. Remarkably, 6 years later, following detraining, all diagnostic signs completely resolved. This case underscores the significance of vigilant athlete follow-up.

Mid-term echocardiographic progression of patients with moderate aortic regurgitation: implications for aortic valve surgery.

BACKGROUND AND AIM OF THE STUDY: Replacement of the aortic valve for moderate aortic regurgitation (AR) as an adjunct to another cardiac surgery, primarily for coronary artery bypass grafting (CABG) or mitral valve replacement or repair, remains the subject of much debate. The study aim was to monitor the progression rate of moderate AR by means of echocardiography, and to reveal the need for future surgical intervention. METHODS: A total of 262 consecutive patients (162 males, 100 females; mean age 65 +/- 15 years; range: 21-93 years) with moderate AR and no more than mild aortic stenosis, were followed for a mean of 42 +/- 31 months. AR resulted from disease of the aortic leaflets in 145 patients (55%) and was secondary to dilatation of the aortic root in 70 patients (27%). The cause of AR could not be determined in 47 patients (18%). RESULTS: Progression to severe AR occurred in 18 patients (6.9%), an average progression rate of 1.9% per year. Patients in whom the main pathology was aortic dilatation had a significantly higher rate of progression to severe AR (9/70; 3.7%/year) compared to those with leaflet pathology (7/145; 1.4%/year, p < 0.03). Only three patients were referred for aortic valve replacement during follow up (yearly rate 0.3%); all of these patients had aortic dilatation as the cause of AR. In total, 26 patients (9.9%) died during the follow up, representing an annual all-cause mortality rate of 2.8%. CONCLUSION: In the face of a slow progression and a low event rate, there is no support for 'prophylactic' valve replacement in patients with moderate AR who have been referred for CABG or mitral valve surgery.

Does gender affect the rates of abnormal exercise stress echocardiography in patients with asymptomatic severe aortic stenosis?

BACKGROUND AND AIM OF THE STUDY: Patient gender can affect not only the clinical manifestations of coronary artery disease (CAD) but also the clinician's interpretation of the symptoms and results of exercise stress tests for management decisions. This may be true also for aortic stenosis (AS), given its many shared features with CAD and similar symptom-based management. The study aim was to evaluate the effect of gender on the assessment of severe asymptomatic AS by exercise stress echocardiography (ESE). METHODS: A total of 160 patients (89 males, 71 females) with severe asymptomatic AS and good left ventricular function underwent ESE for assessment of their clinical status. Of these patients, 133 (83%) were followed up after echocardiography for a mean of 644 +/- 467 days. The findings and outcome were compared between males and females. RESULTS: No gender-related differences were identified for mean age, baseline and peak exercise heart rates and blood pressures, aortic valve area, and prevalence of CAD. Female patients had a lower exercise capacity (shorter exercise time, lower exercise load), but there were no significant between-group differences in the exercise-related parameters defining AS. In total, 38 women (24%) and 45 men (28%) were treated by aortic valve replacement (p = 0.2) within a similar time range from echocardiography (p = 0.6). CONCLUSION: Asymptomatic women with severe AS have similar rates of abnormal ESE as men, despite limitations in exercise capacity among women compared to men.

Impact of Short-Acting Disopyramide on Left Ventricular Mechanics Evaluated by Strain Analysis in Patients with Hypertrophic Obstructive Cardiomyopathy.

Background: Disopyramide is a class Ia antiarrhythmic drug that has been used for the second-line treatment of symptomatic hypertrophic obstructive cardiomyopathy (HOCM). The aim of the study was to assess the impact of short-acting disopyramide in patients with hypertrophic obstructive cardiomyopathy (HOCM) using two-dimensional speckle-tracking echocardiography. Methods: This prospective study included patients with HOCM on chronic treatment with short-acting disopyramide. Two sequential comprehensive echocardiographic examinations were performed: after temporary disopyramide suspension and 2.5 h after disopyramide intake. Results: 19 patients were included in the study. The effect of disopyramide on the left ventricle was not uniform. After the intake of disopyramide, the mean global strain peak was −17 ± 2% before disopyramide intake and −14 ± 2% after (p < 0.0001). There was a significant reduction in strain in the basal septal (p = 0.015), basal inferior (p = 0.019), basal posterior (p = 0.05), apical anterior (p = 0.0001), and apical lateral segments (p = 0.021). In all other segments, there was no significant change. Disopyramide also caused a significant accentuation of the base-apex strain gradients (p = 0.036). No change was noted in circumferential and left atrial strain. While the left ventricular ejection fraction and outflow gradients did not change, the significant reduction in global and segmental longitudinal strain demonstrated the acute negative inotropic effect of disopyramide on the myocardium in patients with HOCM. Conclusion: A strain analysis may be a useful tool to assess the negative inotropic effect of cardiovascular medication on the left ventricle in patients with HOCM.

Comparison of Simultaneous Transthoracic Versus Transesophageal Echocardiography for Assessment of Aortic Stenosis.

Transthoracic echocardiography (TTE) is the gold standard for aortic stenosis (AS) assessment. Transesophageal echocardiography (TEE) provides better resolution, but its effect on AS assessment is unclear. To answer this question, we studied 56 patients with ≥moderate AS. Initial TTE (TTE1) was followed by conscious sedation with simultaneous TEE and TTE2. Based on conservative versus actionable implication, AS types were dichotomized into group A, comprising moderate and normal-flow low-gradient, and group B, comprising high gradient, low ejection fraction low-flow low-gradient, and paradoxical low-flow low-gradient AS. Paired analysis of echocardiographic variables and AS types measured by TEE versus TTE2 and by TEE versus TTE1 was performed. TEE versus simultaneous TTE2 comparison demonstrated higher mean gradients (31.7 ± 10.5 vs 27.4 ± 10.5 mm Hg) and velocities (359 ± 60.6 vs 332 ± 63.1 cm/s) with TEE, but lower left ventricular outflow velocity-time-integral (VTI1) (18.6 ± 5.1 vs 20.2 ± 6.1 cm), all p <0.001. This resulted in a lower aortic valve area (0.8 ± 0.21 vs 0.87 ± 0.28 cm2), p <0.001, and a net relative risk of 1.86 of group A to B upgrade. TEE versus (awake state) TTE1 comparison revealed a larger decrease in VTI1 because of a higher initial awake state VTI1 (22 ± 5.6 cm), resulting in similar Doppler-velocity-index and aortic valve area decrease with TEE, despite a slight increase in mean gradients of 0.8 mm Hg (confidence interval -1.44 to 3.04) and velocities of 10 cm/s (confidence interval -1.5 to 23.4). This translated into a net relative risk of 1.92 of group A to B upgrade versus TTE1. In conclusion, TEE under conscious sedation overestimates AS severity compared with both awake state TTE and simultaneous sedation state TTE, accounted for by different Doppler insonation angles obtained in transapical versus transgastric position.

The value of intraoperative transesophageal echocardiography in patients undergoing aortic valve replacement.

BACKGROUND AND AIM OF THE STUDY: While the role of intraoperative transesophageal echocardiography (IOTEE) in valve repair surgery is well documented, its value in patients undergoing valve replacement is debatable. The study aim was to assess the impact of IOTEE on the management of a large cohort of patients referred for aortic valve replacement (AVR). METHODS: The departmental echocardiography database for patients undergoing AVR with IOTEE between April 1999 and September 2006 at the authors' institution was reviewed. Patients with a diagnosis of infective endocarditis, aortic dissection, or those in whom a composite graft was implanted, were excluded from the study. RESULTS: The study group included 604 patients (319 males, 285 females; mean age 70 +/- 11 years) who underwent AVR for either predominant aortic stenosis (n = 520; 86.1%) or aortic regurgitation (n = 84; 13.9%). Pre-pump IOTEE was performed in 440 patients (72.8%), and post-pump IOTEE in 586 (97.0%). Overall major preoperative findings influencing the operative plan were found in 106 of the 440 patients (24.1%); decisions regarding the mitral valve were the most frequent. The post-pump study revealed unexpected findings requiring a second pump run in 20 patients (3.4%), of whom nine cases (1.5%) applied to the replaced aortic prostheses (paravalvular leak in five patients, coronary obstruction by an aortic bioprosthesis in two, and detection and closure of a pseudoaneurysm in the mitral-aortic fibrosa and incompetent bioprosthesis in one patient each). Eleven patients (1.8%) required a second pump run because of failed mitral/tricuspid repair or hemodynamic compromise. CONCLUSION: The main use of a routine application of IOTEE among patients undergoing AVR was to detect additional lesions preoperatively, and technical failures postoperatively.

Right ventricular pacing increases tricuspid regurgitation grade regardless of the mechanical interference to the valve by the electrode.

AIMS: The effect of right ventricular (RV) pacing on tricuspid regurgitation (TR) is debatable and is presumed to be related to an interference with valve closure by the electrode. The aim of the study was to determine the impact of pacing per se on TR grade. METHODS AND RESULTS: The study group included 23 clinically stable patients (13 males; mean age 78 +/- 12 years) with a permanent pacemaker at the RV apex (83% DDD mode) and normal left ventricular function. They were all non-dependent on pacing and were otherwise in sinus rhythm. None had a primary dysfunction of the tricuspid valve. TR grade and RV size were assessed in two consecutive echo studies with and without active RV pacing. Results showed that active RV pacing was associated with an increase in TR severity (TR vena contracta: 0.4 +/- 0.2 vs. 0.2 +/- 0.2 cm, P < 0.001; TR jet area: 4.1 +/- 2.3 vs. 2.3 +/- 1.8 cm(2), P < 0.001). This was also reflected in a significant decrease in the number of patients with mild TR (P = 0.003) and increase in the number with moderate regurgitation (P = 0.02). There was no change in RV areas with pacing. CONCLUSION: Active RV pacing is associated with a significant increase in TR grade. This effect is not induced by acute changes in the RV area and is unrelated to an interference with leaflet closure by the electrode.

The association of left atrial volume with exercise capacity in patients with chronic severe mitral regurgitation.

BACKGROUND: Left atrial volume and exercise capacity are strong predictors of cardiovascular risk. Decreased exercise capacity is expected when LAV is increased due to its association with abnormal left ventricular filling pressure. However, LAV enlargement is expected in chronic mitral regurgitation as well. OBJECTIVES: To examine the link between LAV and exercise capacity in chronic MR and to determine whether larger LAV has indeed better exercise capacity in patients with chronic severe degenerative MR and good LV systolic function. METHODS: The study included asymptomatic patients with severe chronic degenerative MR and normal LV systolic function that underwent stress echocardiography. LAV was measured at rest using the biplane Simpson's method and indexed to body surface area. The cutoff of good exercise capacity was determined at 7 METS. RESULTS: The patient group comprised 52 consecutive patients (age 60 +/- 14 years, 36 males). Two subgroups (19 vs. 33 patients), age- and gender-matched, were formed according to LAVi cutoff of 42 ml/m2. Those with higher LAVi had lower exercise capacity (P = 0.004) albeit similar MR grade, baseline blood pressure, LV function and size. Receiver-operator curve analysis revealed indexed LAV value of < or = 42 as 51% sensitive and 88% specific for predicting exercise capacity > 7 METS (AUC = 0.7, P = 0.03). In multivariate analysis, age, gender and LAVi were identified as independent predictors of exercise capacity. CONCLUSIONS: In asymptomatic patients with severe chronic degenerative MR and normal LV systolic function, mild enlargement of the left atrium (< or = 42 ml/m2) is associated with good exercise capacity.

Natural History and Disease Progression of Early Cardiac Amyloidosis Evaluated by Echocardiography.

Since the diagnosis of cardiac amyloidosis (CA) is often delayed, echocardiographic findings are frequently indicative of advanced cardiomyopathy. We aimed to describe early echocardiographic features in patients subsequently diagnosed with CA. Preamyloid diagnosis echocardiographic studies were screened for structural and functional parameters and stratified according to the pathogenetic subtype (immunoglobulin light-chain [AL] or amyloid transthyretin [ATTR]). Abnormalities were defined based on published guidelines. Our cohort included 75 CA patients of whom 42 (56%) were diagnosed with AL and 33 (44%) with ATTR. Forty-two patients had an earlier echocardiography exam available for review. Patients presented with increased wall thickness (1.3 [interquartile range {IQR} 1.0, 1.5] cm) ≥3 years before the diagnosis of CA and relative wall thickness was increased (0.47 [IQR 0.41, 0.50]) ≥7 years prediagnosis. One to 3 years before CA diagnosis restrictive left ventricular (LV) filling pattern was present in 19% of patients and LV ejection fraction ≤50% was present in 21% of patients. Right ventricular dysfunction was detected concomitantly with disease diagnosis. The echocardiographic phenotype of ATTR versus AL-CA showed increased relative wall thickness (0.74 [IQR 0.62, 0.92] versus 0.62 [IQR 0.54, 0.76], p = 0.004) and LV mass index (144 [IQR 129, 191] versus 115 [IQR 105, 146] g/m2, p = 0.020) and reduced LV ejection fraction (50 [IQR 44, 58] versus (60 [IQR 53, 60]%, p = 0.009) throughout the time course of CA progression, albeit survival time was similar. In conclusion, increased wall thickness and diastolic dysfunction in CA develop over a time course of several years and can be diagnosed in their earlier stages by standard echocardiography.

Effect of Intramural Course of Coronary Arteries Assessed by Computed Tomography Angiography in Patients With Hypertrophic Cardiomyopathy.

This study evaluated the prevalence, anatomical pattern, and prognostic implications of an intramural course of the coronary arteries in patients with hypertrophic cardiomyopathy (HC). The study population consisted of 92 patients with HC and 100 patients without HC. The presence of an intramural course of the coronary arteries was evaluated by coronary computed tomography angiography (CTA), and its length and depth were measured. During follow-up, the occurrence of unstable angina requiring hospitalization, myocardial infarction, and all-cause mortality was evaluated. An intramural course of the coronary arteries was more common in patients with HC than patients without HC (62% vs 25%, p <0.001). In the patients with an intramural coronary artery course, those with HC had a longer course (29.1 ± 15.3 mm vs 23.0 ± 13.0 mm; p = 0.037) with deeper penetration into the left ventricular myocardium (2.8 ± 1.2 mm vs 2.1 ± 0.8 mm; p = 0.007) and more involvement of multiple coronary arteries (38% vs 4%; p <0.001). During follow-up (mean 5.5 ± 3.5 years), cardiac events occurred in 17 of 57 patients (29.8%) with an intramural course and 11 of 35 (31.4%) without an intramural course (p = 0.87). On Kaplan-Meier survival analysis, there was no difference in cumulative event rate between HC patients with or without an intramural course (p = 0.89, log rank test). In conclusion, patients with HC have a high rate of an intramural course of the coronary arteries on CTA. The number of involved arteries and the length and depth of the intramural course differ between patients with and without HC, but apparently have no association with worse clinical outcomes.

Prevalence and morphology of myocardial crypts in normal and hypertrophied myocardium by computed tomography.

Myocardial crypts can be recognized in patients with hypertrophic cardiomyopathy (HCM) using magnetic resonance imaging, but similar studies using computed tomography (CT) are sparse. The aim of the present study was to evaluate the prevalence and morphology of myocardial crypts in patients with HCM, arterial hypertension, and aortic valve stenosis using contrast-enhanced CT. We also investigated the added value of a finding of myocardial crypts on CT scan to the diagnosis of HCM. The study cohort included 73 patients with HCM, 100 patients with arterial hypertension, 120 patients with aortic valve stenosis, and 100 subjects without cardiovascular disease (normal control group). All underwent evaluation for the presence and dimensions of myocardial crypts using 256-slice CT. Crypts were identified in 18 patients (24.7%) with HCM, 7 patients (7%) with hypertension, 8 patients (6.7%) with aortic valve stenosis, and 4 (4%) normal subjects (P < 0.001). Values of crypt length, width, area, and penetration into myocardium were highest in the HCM group. Crypt area differentiated patients with HCM from patients with arterial hypertension and aortic valve stenosis, and from normal control subjects. Crypt area was an accurate predictor of HCM, with an area under the receiver-operator characteristic curve of 0.88 (95% CI 0.80-0.96). Myocardial crypts identified by CT are more prevalent and larger in area in HCM than in arterial hypertension and aortic valve stenosis. Crypt area could potentially help to improve the diagnosis of HCM by CT beyond the assessment of left ventricular thickness or mass.

Echocardiographic Assessment of Aortic Stenosis under Sedation Underestimates Stenosis Severity.

BACKGROUND: Sedation can impact aortic stenosis (AS) classification, which depends on left ventricular ejection fraction (<≥ [less than or greater than and/or equal to] 50%), aortic valve area (AVA<≥ 1 cm2), mean pressure gradient (<≥ 40 mm Hg), peak velocity <≥ 400 cm/sec, and stroke volume index (SVI <≥35 mL/m2). We compared AS classification by transthoracic echo (TTE) during wakefulness versus sedation. METHODS: Immediately following a baseline TTE performed during wakefulness, another TTE was done during sedation delivered for a concomitant transesophageal study in 69 consecutive patients with AS (mean age 78 ± 7 years, 32 males). AVA was calculated through the continuity equation using the relevant hemodynamic parameters measured by each TTE study and same left ventricular outflow tract. AS class was defined as moderate, severe high gradient (HG), low ejection fraction low flow low gradient (LF-LG), paradoxical LF-LG (PLFLG), and normal flow low gradient (NF-LG). Based on conservative versus invasive treatment implication, AS classes were aggregated into group A (moderate AS and NFLG) and group B (HG, low-EF LF-LG, and PLFLG). RESULTS: During sedation, systolic and diastolic blood pressure decreased by 14.3 ± 29 and 8 ± 22 mm Hg, respectively, mean pressure gradient from 30.4 ± 10.9 to 27.2 ± 10.8 mm Hg, peak velocity from 345.3 ± 57.7 to 329.3 ± 64.8 cm/m2, and SVI from 41.5 ± 11.3 to 38.3 ± 11.8 mL/m2 (all P < .05). Calculated AVA was similar (delta = -0.009 ± 0.15 cm2). Individual discrepancies in hemodynamic parameters between the paired TTE studies resulted in an overall 17.4% rate of AS intergroup misclassification with sedation, with a relative risk of 1.09 of downgrade misclassification from group B to A versus upgrade misclassification (P < .001). CONCLUSIONS: Sedation TTE assessment downgrades AS severity in a significant proportion of patients, with a conversely smaller proportion of patients being upgraded, and therefore cannot be a substitute for wakefulness assessment.

Does exercise echocardiography have an added value over exercise testing alone in asymptomatic patients with severe aortic stenosis?

BACKGROUND AND AIM OF THE STUDY: The study aim was to assess the clinical utility and added value of exercise stress echocardiography (ESE) over exercise testing alone in asymptomatic patients with severe aortic stenosis (AS). METHODS: The results of treadmill ESE in 101 consecutive patients (59 males, 42 females; mean age 69 +/- 10 years; range: 35-85 years) with asymptomatic severe AS (aortic valve area (AVA) <1 cm2 and/or mean transvalvular pressure gradient > or =50 mmHg) and normal left ventricular function, were analyzed. The test was considered abnormal if stopped prematurely because of limiting symptoms, a fall or small rise in systolic blood pressure, or complex ventricular arrhythmia. RESULTS: The mean resting AVA was 0.74 +/- 0.13 cm2, and peak and mean transvalvular gradients were 91 +/- 19 and 57 +/- 13 mmHg, respectively. In total, 69 patients (68%) developed an abnormal response, including symptoms (n = 48) and abnormal blood pressure response (n = 44). There were no cases of syncope or other major complications. Exercise transaortic pressure gradients could not be used to discriminate patients with otherwise normal and abnormal ESE or cardiac events. An abnormal contractile response was observed in 12 patients, in seven of whom it was the only ESE abnormal parameter. A total of 96 patients (95%) was followed up for a mean of 35 +/- 14 months. Aortic valve replacement-free survival was significantly lower in patients with an abnormal ESE result compared to those with a normal result. CONCLUSION: ESE has a limited added value to exercise testing alone in asymptomatic patients with severe AS. In a small percentage of these cases an abnormal contractile response, despite otherwise normal exercise parameters, constitutes a new finding that deserves further investigation.

Calculated Risk for Sudden Cardiac Death in Patients with Apical Versus Nonobstructive Nonapical Hypertrophic Cardiomyopathy.

There are limited and conflicting data regarding the prognosis of patients with apical hypertrophic cardiomyopathy (HC) and their risk for sudden cardiac death (SCD). We used data from a single tertiary center for comparing the clinical course and the calculated risk for SCD in patients with nonobstructive apical HC (apical HC) versus patients with nonobstructive, nonapical HC (NONA HC). The 5-year SCD risk was calculated based on the HC risk-SCD tool. A total of 109 patients were included in the cohort of whom 44 (40%) patients were diagnosed with apical HC. The majority of patients were males with a median age at diagnosis of 40 years (interquartile range 26, 59 years). Patients with apical HC had a significant lower calculated 5-year risk for SCD compared with patients with NONA HC (2.65 ± 2.2% vs 4.00 ± 3.5%, respectively, p = 0.017), primarily due to a lower incidence of familial SCD (20% vs 43% respectively, p = 0.014). Only 9% of patients with apical HC had a calculated risk of >6% (implantable cardioverter-defibrillator recommended), as compared with 23% of patients with NONA HC. During a median follow-up of 1,018 days (interquartile range 546, 1449 days), apical HC patients tended to develop less malignant ventricular arrhythmia episodes compared with NONA HC patients (0% vs 7.7%, respectively, p = 0.060). In conclusion, apical HC patients have a lower calculated risk of SCD compared with NONA HC patients, mainly due to a lower incidence of family history of SCD. Thus, apical HC should be considered a form of HC less prone to SCD.

Association Between Mitral Annular Calcium and Flail Mitral Leaflet in Degenerative Mitral Valve Disease.

The aim of this study was to assess the association between mitral annular calcium (MAC) and flail mitral leaflets in a cohort of patients with degenerative mitral valve disease. A retrospective study was conducted of consecutive patients with degenerative mitral valve disease who underwent echocardiography at Rabin Medical Center from 2003 to 2012. Special focus was attended to the presence and grade of MAC and characterization of valve pathology (myxomatous vs nonmyxomatous, prolapse vs flail). Patients were excluded if they had undergone previous mitral valve surgery and/or had infective endocarditis. Multivariate logistic regressions were used to control for confounders. The study included 1,912 patients (60.8% men, mean age 63.8 ± 17.4 years) divided into 3 groups: 1,627 (86%) without MAC, 183 (10%) with either mild or moderate MAC, and 94 (5%) with severe MAC. The presence of flail leaflet was 27%, 30%, and 46% in these groups, respectively (p <0.001). After adjustment for age, gender, and co-morbidities, the odd ratio for flail mitral leaflet with severe MAC versus no MAC was 1.76 (95% confidence interval 1.10 to 2.83, p = 0.019). In conclusion, this study demonstrates that degenerative mitral valve disease with severe MAC is significantly associated with flail mitral leaflet.

Clinical and Echocardiographic Features of Mitral Annular Calcium in Patients Aged ≤50 Years.

Data regarding characteristics of young patients with mitral annular calcification (MAC) and its associations with other cardiovascular risk factors are scarce. Hence, we sought to characterize patients aged <50 years with MAC and to examine whether in these patients, MAC is also associated with cardiovascular risk factors. Consecutive patients who underwent an echocardiographic study were prospectively entered into a database. The database included clinical, laboratory, and echocardiographic parameters. The present study included 56 patients aged <50 years with a diagnosis of MAC. The mean age was 44.2 ± 6.9 years with a male-to-female ratio of 2.5:1. The prevalence of cardiovascular risk factors (30 patients [53%] hypertension, 17 patients [30%] diabetes mellitus, 24 patients [43%] dyslipidemia, 22 patients [39%] smoking) and established cardiovascular disease (22 patients [39%] coronary artery disease, 11 patients [19%] previous stroke) was substantially higher than expected for this age group. Twenty-nine patients (52%) had chronic kidney disease. Of these, 18 patients (62%) had end-stage kidney disease and 7 patients (24%) underwent renal transplantation. Fourteen patients (25%) and 3 patients (5%) had moderate or severe mitral regurgitation and mitral stenosis, respectively. Aortic valve disease was present in 37 patients (66%). Moderate or severe left ventricular dysfunction and left ventricular hypertrophy were identified in 9 patients (16%) and 31 patients (56%), respectively. In conclusion, the detection of MAC in a young patient should be regarded as a marker of atherosclerotic disease, chronic kidney disease, and aortic valve disease.

Transoesophageal echocardiography of aortic atherosclerosis: the additive value of three-dimensional over two-dimensional imaging.

AIMS: Complex aortic atherosclerotic plaques (AAPs) carry a significant risk of embolism. Currently, two-dimensional (2D) transoesophageal echocardiography (TOE) is the principal diagnostic tool of AAPs. However, we hypothesized that the data obtained from three-dimensional (3D) imaging may improve AAPs' spatial assessment. METHODS AND RESULTS: The study included 67 patients (aged 70 ± 15 years, 35 men), who had routine TEE studies. The thoracic aorta was studied from arch to distal descending aorta, using the x-plane mode (simultaneous short- and long-axis views). If focal intimal thickening (suggestive of AAP) was detected, the 3D zoom algorithm was exercised on the specific site with further post-processing on a Q-lab workstation to measure its thickness in the X, Y, and Z dimensions. The AAP contour was defined qualitatively as regular or irregular in each mode. A total of 100 AAPs were investigated. The AAP thickness estimation was significantly greater in the 3D mode than in the 2D mode (0.51 ± 0.33 vs. 0.28 ± 0.20 cm, P < 0.001). The rate of complex AAPs (defined by AAP thickness of ≥4 mm) was two-fold higher with 3D imaging than with 2D imaging (27% with 2D imaging alone vs. 53% with the addition of 3D imaging). The rate of irregular AAPs increased from 29 to 65% when assessed with 3D imaging compared with 2D imaging. CONCLUSION: This study has shown a significant difference in the estimation of AAPs between 2D and 3D TEE. The significant shift to a more complex AAPs profile may suggest that 3D imaging is preferable for the assessment of aortic atherosclerosis burden.