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Multiple lentigines syndrome is an autosomal dominant inherited condition with variable expressivity that is also known as LEOPARD syndrome. LEOPARD stands for lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary valve stenosis, abnormalities of genitalia, retardation of growth, and deafness. LEOPARD syndrome most frequently develops secondary to a missense mutation of protein-tyrosine phosphatase nonreceptor type 11 gene, which encodes tyrosine phosphatase. The missense mutation p.Tyr279Cys can either occur as a de novo mutation or affect multiple family members. Although hypertrophic cardiomyopathy is not part of the LEOPARD acronym, it is the most frequent cardiac anomaly observed in this syndrome. The recognition of increased left or right ventricular wall thickness in patients with LEOPARD syndrome may have significant impact on their clinical course similar to classic hypertrophic cardiomyopathy, which may require septal reduction procedures for relief of left or right ventricular outflow tract obstruction or implantable cardioverter-defibrillator placement for sudden cardiac death prevention. We describe a case series of a family with diffuse lentigines and hypertrophic cardiomyopathy in which the son carries the protein-tyrosine phosphatase nonreceptor type 11 (p.Tyr279Cys) gene mutation and both the son and daughter underwent left ventricular myectomy at an early age. In conclusion, our case series of a family with LEOPARD syndrome illustrates the importance of recognizing hypertrophic cardiomyopathy as part of this syndrome.

Mitral arcade is a rare entity that is mostly reported in pediatric patients. We present the first 2 adult cases of mitral arcade in combination with tricuspid dysplasia, left ventricular noncompaction, and short-chain acyl-CoA deficiency in 2 brothers. We examined clinical and echocardiographic data on 2 brothers with a combination of short-chain acyl-CoA deficiency, mitral arcade, tricuspid dysplasia, and left ventricular noncompaction (LVNC), highlighting their clinical course and outcomes. Two-dimensional and 3-dimensional transthoracic echocardiography revealed direct attachment of the papillary muscles to the mitral leaflets, namely mitral arcade, as well as mild mitral regurgitation along with LVNC and tricuspid dysplasia. Over the past 7 years, both brothers have remained asymptomatic with excellent exercise capacity (13 and 10 metabolic equivalents (METS), respectively). Mitral and tricuspid regurgitation remain mild with unchanged left ventricular function (ejection fraction: 65% and 59%). In conclusion, we highlight 2 cases with a constellation of pathology including short-chain acyl-CoA deficiency, mitral arcade, tricuspid dysplasia, and LVNC, which has never been described before.

Hypertrophic cardiomyopathy is a clinically heterogeneous disease with common findings of ventricular hypertrophy, left ventricular outflow tract (LVOT) obstruction, mitral regurgitation, and diastolic dysfunction. Sometimes, the condition can lead to catastrophic cardiac events. Pregnancy can pose a larger challenge, due to medication restrictions associated with pregnancy. We report a case of a 43-year-old pregnant woman presenting with symptomatic hypertrophic obstructive cardiomyopathy (HOCM). As her pregnancy progressed, her HOCM worsened both symptomatically and by objective echocardiographic data. These changes continued despite optimized medical therapy. After an in-depth discussion with both the patient and family, we proceeded with alcohol septal ablation, which was successful in both reducing her LVOT gradient and her symptoms. Her pregnancy was overall uneventful, and both she and her child are doing well more than 4 years from the date of the procedure.

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.

BACKGROUND 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. METHODS We retrospectively interrogated medical records of 167 stable HCM patients from 1/2011 to 3/2014. cTnI >0.04 ng/mL was considered positive. RESULTS Thirty-four percent were troponin-positive (median cTnI was 0.1 [0.07, 0.2] ng/dL). cTnI as a continuous variable correlated positively with maximal left ventricular wall thickness (LVT), maximal interventricular septal thickness, and global longitudinal strain (GLS) (P

Introduction Danon disease is an X-linked lysosomal condition that causes a deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. It is characterized clinically by a triad of skeletal myopathy, cardiomyopathy, and intellectual disability. Methods We examined clinical, echocardiographic, and genetic data on 5 patients with Danon disease, highlighting their clinical course and outcomes. Results All patients presented phenotypically with hypertrophic cardiomyopathy and later developed systolic dysfunction. The mean age at diagnosis was 19years (11–31years). All patients had diastolic dysfunction (mean e' of 5cm/s [3.5–6cm/s], mean E/e′ of 17 [15–21]). Three patients required cardiac transplantation (ages 15, 27, and 42). Of the two deaths in this group, both were in women. Conclusion We highlight the aggressive cardiac phenotype of Danon disease in our clinical experience with rapid progression to end-stage cardiomyopathy; this progression occurred in both men and women. A timely diagnosis and an early referral for cardiac transplantation is crucial for improved outcomes.

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.

Aortic root and ascending aortic dilatation are indicators associated with risk of aortic dissection, which varies according to underlying etiologic associations, indexed aortic root size, and rate of progression. Typical aortic involvement is most commonly seen in syndromic cases for which there is increasing evidence that aortic aneurysm represents a spectrum of familial inheritance associated with variable genetic penetrance and phenotypic expression. Aortic root and ascending aortic dimensions should be measured routinely with echocardiography. Pharmacologic therapy may reduce the rate of progression. Timing of surgical intervention is guided by indexed aortic size and rate of change of aortic root and ascending aorta dimensions. Lifelong surveillance is recommended.

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.

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.HighlightsWe present a most contemporary regional hypertrophic cardiomyopathy center experience.We propose a modification to the MOGE(S) (Morphofunctional, Organ involvement, Genetics, Etiology of details of the genetic disease or underlying cause, and functional Status) classification for hypertrophic cardiomyopathy.MOGE(S) classification provides insight about clinical course and facilitates communication.

A unique approach to disseminate an evidence-based protocol for urinary catheter management was led by a staff-driven catheter-associated urinary tract infection (CAUTI) reduction team in one hospital. The nurseeducators, faculty from a local university, and the facility's clinical nurse leader mentored the team. As an approachto reduce CAUTIs in the transplant care and intensive care units, the team developed an interdisciplinary CAUTIEducation Fair, which provided a safe, nonthreateningenvironment to unlearn prior behaviors and showcompetency in new evidence-based ones.

Background: Prior studies have suggested a relationship between aortic dilatation and hypertrophic cardiomyopathy (HCM). There are no data evaluating the relative strength of association between dilated aorta and HCM in terms of whether the dilatation was mediated by left ventricular outflow tract (

Hypertrophic cardiomyopathy (HCM) is the most prevalent (0.2%) heritable, genetic cardiovascular disease. Aortopathies also represent a spectrum of familial inheritance with prevalence of ∼4%. However, prevalence of aortopathy in HCM patients has not been previously described. Clinical database

A 43-year-old man with repaired tetralogy of Fallot presented with chest pain. His electrocardiogram revealed sinus rhythm with non-specific ST-T wave changes, and a nuclear stress test was negative for ischaemia. Transthoracic echocardiography in the parasternal short-axis view at the level of the aortic cusp (AC) …

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