Monckeberg calcification of coronary arteries: a string of pearls.

Coronary artery calcium scores are derived from cardiac-gated noncontrast computed tomography scans that are used in cardiac risk stratification. However, an elevated calcium score does not always translate to coronary artery luminal obstruction. Our case demonstrates an extremely high coronary artery calcium score despite nonobstructive coronaries on angiogram.

Familial LEOPARD Syndrome With Hypertrophic Cardiomyopathy.

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.

Familial Mitral Arcade, Tricuspid Dysplasia, Left Ventricular Noncompaction and Short-Chain Acyl-CoA Reductase Deficiency.

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.

Successful alcohol septal ablation in a pregnant patient with symptomatic hypertrophic obstructive cardiomyopathy.

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. .

Malignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy).

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.

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

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<.001). Unadjusted OR (95% CI) for positive troponin was 0.5 (0.3-0.9, P=.05) for obstructive HCM, 3.2 (1.7-5.9, P<.0001) for increased LVT, 0.3 (0.2-0.6, P<.0001) for -5% increase in GLS, 0.2 (0.04-0.9, P=.04) for moderate-to-severe mitral regurgitation, and 1.9 (0.9-3.9, P=.06) for implantable cardioverter defibrillator history. After adjusting for these variables, only maximum LVT (OR 2.5 [95% CI: 1.1-5.7, P=.02]) and GLS (OR 0.3 [95% CI: 0.2-0.6, P=.001]) were independent predictors. The percentage of patients with a positive cTnI increased from 19% to 24% and 57% across tertiles of LVT (P=.003) and decreased from 54% to 33% and 14% across tertiles of GLS (P<.0001). CONCLUSION: In this cohort of HCM patients, the association of reduced GLS and positive troponin was independent of LVT. Further studies are warranted to evaluate whether their combination adds prognostic value in identifying high-risk patients to define effective and early intervention strategies.

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.

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.

A Unique Approach to Dissemination of Evidence-Based Protocols: A Successful CAUTI Reduction Pilot.

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.

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.

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.

Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management.

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.

Lichen planus-like eruptions: an emerging side effect of tumor necrosis factor-alpha antagonists.

As tumor necrosis factor (TNF)-alpha inhibitors gain wider use in clinical practice, it is becoming increasingly evident that these potent immunosuppressants can also induce inflammatory reactions. We present two cases of lichen planus-like eruptions after infliximab and adalimumab therapy for psoriasis, and review the literature on this phenomenon. Eleven cases of lichen planus or lichenoid drug eruptions have been previously reported in patients taking TNF-alpha inhibitors, in addition to several cases of psoriasiform eruptions with a lichenoid histology. Because TNF-alpha has been implicated in the pathogenesis of lichen planus, induction of lichenoid reactions by TNF-alpha inhibition is somewhat unexpected. We consider potential immunologic mechanisms, and suggest that TNF-alpha inhibition may precipitate lichenoid reactions through disruption of a delicate balance between TNF-alpha and interferon-alpha in susceptible patients.

Patch testing a patient with allergic contact hand dermatitis who is taking infliximab.

We report the case of a patient who developed allergic contact hand dermatitis while receiving infliximab infusions for psoriasis and psoriatic arthritis. Patch testing showed multiple positive allergens. To our knowledge, this is the first case report of successful patch testing in a patient receiving tumor necrosis factor-alpha (TNF-alpha) blockade therapy. TNF-alpha blockers do not necessarily suppress allergic contact hypersensitivity and are not an absolute contraindication to patch testing.