Anushree Agarwal

Left Ventricular Noncompaction in Patients with Bicuspid Aortic Valve

BACKGROUND Left ventricular noncompaction (LVNC) is commonly associated with complex congenital anomalies. The association of LVNC with less complex but more frequent anomalies, such as bicuspid aortic valve (BAV), is not well described in the literature. The aims of this study were to (1) determine the incidence of association of LVNC with the most common congenital anomaly, BAV, in an echocardiographic database and (2) describe clinical and imaging characteristics of these patients. METHODS An echocardiography database was retrospectively interrogated to identify 109 patients who fulfilled the echocardiographic criteria for BAV from July 1, 2011, to March 31, 2013. Echocardiograms were carefully evaluated to identify patients with concomitant LVNC. RESULTS Twelve patients (11.0%) with BAV fulfilled the criteria for LVNC. The mean age at diagnosis was 33 ± 16.9 years; nine of 12 were men. Eight patients (66.7%) had symptoms during initial presentation. The most common BAV morphology was fusion of the right and left coronary cusps. Nine patients had mild or moderate aortic valve dysfunction (aortic regurgitation and/or stenosis), and eight had associated aortopathy. LVNC was located at the apex in all patients except one. Mean systolic global longitudinal strain was -16.9 ± 2.7%. CONCLUSIONS In this series of patients, concomitant BAV and LVNC were observed in 11% of a BAV population. Further studies are needed to understand the genetic and pathophysiologic basis of this association.

Clinical Application of WHF-MOGE(S) Classification for Hypertrophic Cardiomyopathy

BACKGROUND Recently, a new MOGE(S) (Morphofunctional, Organ involvement, Genetics, Etiology of details of the genetic disease or underlying cause, and functional Status) genotype to phenotype nosology system for classification of cardiomyopathies was proposed, but its clinical use has not been described. OBJECTIVES This study presents the comprehensive geno-phenotypic evaluation of hypertrophic cardiomyopathy (HCM) patients by employing the newly proposed World Heart Federation classification of cardiomyopathies - the MOGE(S) classification. METHODS From January 2011 to March 2014, 254 patients were evaluated (190 probands and 64 family members). Of those, 181 were HCM phenotype-positive probands, and 54.7% were male patients. Mean maximal left ventricular thickness was 2.2 ± 0.6 cm, with >2.5 cm thickness seen in 21.5% of patients. Obstructive HCM was present in 66.3% of patients, with an average peak gradient of 57.1 ± 47.2. Detailed clinical, imaging, and follow-up data were analyzed. Gene testing was performed in 129 patients (67.9%), and they were categorized into gene-positive (MHOHGADEG+) and gene-negative (MHOHGADEG-) groups based on the MOGE(S) classification. RESULTS MHOHGADEG+ patients were younger at time of diagnosis, more likely to be female, more likely to have ventricular tachycardia and a family history of HCM or sudden death, had lower peak gradients, and were more likely to have sudden death risk factors. CONCLUSIONS In addition to employing genotype-to-phenotype nosology to describe HCM, we propose a modification to the current MOGE(S) classification for HCM based on the presence or absence of obstruction and location of hypertrophy within the morphology.

Aortic Atherosclerosis: A Common Source of Cerebral Emboli, Often Overlooked!

Aortic atherosclerotic plaques are usually seen in males older than 55 years who are known to have risk factors of atherosclerosis. Recent large series of consecutive stroke patients reported that the prevalence of aortic atheromatous plaques in patients with stroke is about 21%–27%, which is in the same magnitude when compared with the prevalence of carotid disease (10%–13%) and atrial fibrillation (18%–30%). Atheromatous plaques are composed of a lipid pool, a fibrous cap, smooth muscle cells, and mononuclear cell infiltration with calcification. Aortic plaques can cause embolization to brain, extremities, or visceral organs. Atheroembolization can occur spontaneously or as a result of manipulation during cardiac or vascular surgery. Only few cases of cerebral embolization from an aortic plaque in the absence of any manipulation have been described. Although few atherosclerotic plaques can be visualized on the aortogram, transesophageal echocardiogram remains a preferred modality for diagnosis in such cases. We present a case of cerebral embolism arising from a mobile noncalcified complex aortic arch plaque diagnosed on a transesophageal echocardiogram and review the literature on its diagnosis, clinical implications, and management.

Left ventricular apical aneurysm: a novel phenotype of Fabry's disease

A 63-year-old man with a history of chronic kidney disease and atrial flutter status post ablation and permanent pacemaker implant presented with worsening shortness of breath. Echocardiogram revealed asymmetric left ventricular wall thickness involving the posterior wall and midventricular …

Myocardial mechanics in noncontiguous HCM.

Marked phenotypic heterogeneity is typical of hypertrophic cardiomyopathy (HCM) with mostly localized and contiguous left ventricular hypertrophy. Rarely, noncontiguous but focal left ventricular hypertrophy is seen [(1)][1]. A more comprehensive assessment of HCM, including segmental distribution

Hypertrophic cardiomyopathy associated with sleep apnea: serious implications and cogent management strategy

Obstructive sleep apnea (OSA) affects an estimated 20 million adult Americans and is present in a large proportion of patients with hypertension and in those with other cardiovascular disorders, including hypertrophic cardiomyopathy (HCM). This review seeks to highlight concepts and evidence important to understanding the interactions between OSA and HCM, with particular attention to more recent advances in patient-oriented research. Studies of patients with HCM have found the prevalence of sleep-disordered breathing to range from 40 to 80%. Increased sympathetic activity, impaired vagal activity, increased afterload, insulin resistance and endothelial dysfunction have been proposed as potential mechanisms for the association. Specific questions include whether OSA is important in unmasking symptoms in hitherto undiagnosed patients with HCM, whether OSA in patients with established HCM accelerates disease progression and whether treatment of OSA results in clinical improvement, fewer cardiovascular events and reduced mortality. Because obesity, cardiovascular disease, metabolic syndrome, and diabetes are often present in patients with OSA, it can be difficult to attribute abnormalities evident in the sleep apnea patient with HCM to the effects of OSA, the effects of HCM or synergies between these conditions. Although further research is needed to answer these specific questions, recent investigations have clearly shown the coexistence of OSA and HCM, as well as elucidated the contribution of heightened sympathetic nerve activity in OSA to drug-refractory symptoms and worsening left ventricular outflow tract obstruction. This review aims to highlight the current literature available on the association of OSA and HCM, provide directions for future research and summarize the key features related to this association based on the authors’ best understanding and experience.

Double Jeopardy in the Echocardiography Laboratory: Coexistence of Two Distinct Cardiomyopathies?

In our Hypertrophic Cardiomyopathy (HCM) Center, we identified 6 patients each with what appeared to be the occurrence of 2 rare diseases that prompted investigation for a common derivative.

Hypertrophic cardiomyopathy with aortic dilation: a novel observation

Aims Our goal was to identify the prevalence of aortic dilation in patients with hypertrophic cardiomyopathy (HCM), the most prevalent (0.2%) heritable, genetic cardiovascular disease. Aortic dilation also represents a spectrum of familial inheritance. However, data regarding the prevalence of aortic dilation in HCM patients is lacking. Methods and results This is an observational retrospective study of all patients referred to our HCM centre. Aortic dilation was defined based on recent American Society of Echocardiography and European Association of Cardiovascular Imaging published guidelines. Of the 201 HCM patients seen between Jan. 1, 2011 and March 31, 2014, 18 (9.0%) met the definition of aortic dilation. Mean age was 56.3 ± 9.3 years, 77.8% were male, mean ascending aorta diameter was 4.0 ± 0.4 cm in males and 3.8 ± 0.2 cm in females, mean sinuses of Valsalva diameter was 4.2 ± 0.2 cm in males and 3.8 ± 0.4 cm in females, and 13 (72.2%) had left ventricular outflow tract obstruction. HCM patients with dilated aorta were more likely males, less likely hypertensive and had larger left ventricle diameter and more aortic valve regurgitation; remaining characteristics were similar. Conclusion We report a novel observation with 9.0% prevalance of dilated aorta in HCM patients. Further studies are needed to help define the genetic and pathophysiologic basis as well as the clinical implications of this association in a larger group of HCM patients.

Relationship of cardiac troponin to systolic global longitudinal strain in hypertrophic cardiomyopathy

A high proportion of stable hypertrophic cardiomyopathy (HCM) patients have elevated serum cardiac troponin I (cTnI), but its clinical and echocardiographic determinants are unknown. Our objective was to determine the prevalence and clinical predictors of positive troponin (cTnI+) in a well‐defined population of HCM patients using a highly sensitive assay.

A great imitator in adult cardiology practice: congenitally corrected transposition of the great arteries

INTRODUCTION Congenitally corrected transposition of the great arteries (ccTGA) is a rare congenital disease that frequently remains undiagnosed until adulthood, especially when there is an absence of other congenital anomalies. Adults with ccTGA may remain asymptomatic and their diagnosis could be missed on initial evaluation, or it could be diagnosed incidentally as an evaluation of murmur. We aim to report the different presentations of ccTGA in eight adult patients and review the key features required to suspect the diagnosis during an initial visit. CASES We present some illustrative cases of ccTGA patients who had diverse presentations ranging from being completely asymptomatic to presenting with an acquired heart disease resulting in sudden cardiac arrest. Overall, most of these patients had isolated ccTGA with no other significant associated cardiac anomalies and were either undiagnosed or lost to follow-up until adulthood. These case illustrations represent the challenges confronted in adult practices when patients with unrecognized ccTGA present during an initial visit. CONCLUSIONS Congenitally corrected transposition of the great arteries poses a challenge in the adult cardiology practice because of its diverse clinical presentation. It is crucial that internists, cardiologists, and sonographers maintain a high degree of suspicion after meticulous physical examination for the early recognition of ccTGA, and thus avoid associated morbidities. Through some case examples, we provide clues to the key diagnostic features that could help them to be vigilant in making a diagnosis.