Hypertrophic cardiomyopathy in identical twins: a case series.

Background: Hypertrophic cardiomyopathy in identical twins is rare. Cases of hypertrophic cardiomyopathy with homogenous and heterogeneous phenotypes have been described in the literature. Case summary: We report a pair of monozygotic twins (Twin A and Twin B) with identical morphological expression of hypertrophic cardiomyopathy. On initial evaluation, both twins had resting left ventricular outflow tract obstruction, Grade II diastolic dysfunction, and New York Heart Association (NYHA) Class II symptoms, but they had a different clinical course afterward. Twin A progressed from NYHA Class II to Class III with a high left ventricular outflow tract pressure gradient that was unresponsive to medical treatment and required alcohol septal ablation. Twin B responded very well to medical treatment. Both patients had no risk factors for sudden cardiac death, and neither required an implantable cardioverter defibrillator. Discussion: The morphology of hypertrophic cardiomyopathy has a strong genetic basis, but epigenetic factors may affect disease expression.

Giant high-pressure pulmonary artery aneurysm (PAA) in a patient with COPD and chronic pulmonary embolism (PE).

A woman in her 60s with a history of known severe chronic obstructive pulmonary disease (COPD), former smoker of 50 pack-years and small patent foramen ovale (PFO) without significant shunt was admitted for acute on chronic hypoxic respiratory failure. Diagnostic workup showed severe dilatation of main pulmonary artery (MPA) (75.5 mm axial view and 86.6 mm sagittal view) and left and right PAs measuring 40 mm and 34 mm, respectively, on CT angiography of the chest. Right heart catheterisation showed severe pulmonary hypertension (PH). A diagnosis of giant high-pressure pulmonary arterial aneurysm (PAA) secondary to PH, induced by COPD, and chronic pulmonary embolism was made. Despite aggressive medical management, she passed away on comfort care. Giant high-pressure PAAs are rarely reported. This is a unique case that demonstrates this very rare condition in a living patient. The management of giant PAA is controversial. Experts recommend medical management or aneurysmectomy for sizes of >55-60 mm. Death could have been prevented if our patient was screened earlier and received appropriate medical care.

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.

Squamous Cell Carcinoma of the Tongue with Metastasis to Myocardium: Report of a Case and Literature Review.

This is a case of a 43-year-old man who in 2014 was diagnosed with oral squamous cell carcinoma involving the tongue. He underwent extensive surgery that involved right tongue cancer resection and reconstruction with a free flap graft from his right forearm. He then was started on chemotherapy and radiation. Surveillance computed tomography in December 2016 showed a cardiac lesion in the left ventricular apex, which was confirmed by further echocardiography and cardiac magnetic resonance imaging. A biopsy of the mass revealed metastatic squamous cell carcinoma. He was deemed to not be a surgical candidate and continued on palliative chemotherapy. The patient had a very poor prognosis and eventually succumbed to the disease, highlighting the importance of surveillance imaging in such cases. A high index of suspicion on the part of the physician is needed to help in the early identification of these patients.

Stable ischemic heart disease in women: current perspectives.

Cardiovascular disease is the leading cause of death in women accounting for 1 in every 4 female deaths. Pathophysiology of ischemic heart disease in women includes epicardial coronary artery, endothelial dysfunction, coronary vasospasm, plaque erosion and spontaneous coronary artery dissection. Angina is the most common presentation of stable ischemic heart disease (SIHD) in women. Risk factors for SIHD include traditional risks such as older age, obesity (body mass index [BMI] >25 kg/m2), smoking, hypertension, dyslipidemia, cerebrovascular and peripheral vascular disease, sedentary lifestyle, family history of premature coronary artery disease, metabolic syndrome and diabetes mellitus, and nontraditional risk factors, such as gestational diabetes, insulin resistance/polycystic ovarian disease, pregnancy-induced hypertension, pre-eclampsia, eclampsia, menopause, mental stress and autoimmune diseases. Diagnostic testing can be used effectively to risk stratify women. Guidelines-directed medical therapy including aspirin, statins, beta-blocker therapy, calcium channel blockers and ranolazine should be instituted for symptom and ischemia management. Despite robust evidence regarding the adverse outcomes seen in women with ischemic heart disease, knowledge gaps exist in several areas. Future research needs to be directed toward a greater understanding of the role of nontraditional risk factors for SIHD in women, gaining deeper insights into the sex differences in therapeutic effects and formulating a sex-specific algorithm for the management of SIHD in women.

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.

Peppered and rare - Gastric and Duodenal Pseudomelanosis: A case series.

Upper Gastrointestinal (GI) pseudomelanosis is an uncommon entity characterized by endoscopic visualization of speckled dark mucosal pigmentation. While described in the rectum and colon, 'melanosis' or more aptly 'pseudomelanosis' is rare in the duodenum and exceedingly rare in the stomach. Five cases of pseudomelanosis were encountered at our department. Four females and one male were diagnosed, with a mean age of 70 years. All patients exhibited duodenal pseudomelanosis, with one demonstrating gastric antral pseudomelanosis as well. Common features among these patients included iron deficiency anemia, hypertension, chronic kidney disease, hydralazine use and iron supplementation. Biopsy specimens stained at least partially positive for iron and stains for calcium and copper were negative. Histochemical analysis revealed the pigment of pseudomelanosis to be mainly iron sulfide, exhibiting unpredictable staining patterns, hypothesized to be secondary to varying sulfur content and iron oxidation. It is visualized as dark deposits in macrophages at the tips of the duodenal villi. Upper GI pseudomelanosis remains a poorly understood finding, weakly associated with chronic kidney disease, diabetes, hypertension, iron supplements and anti-hypertensive medications. While the pathogenesis, clinical and prognostic significance remains unclear, it is thus far considered a benign condition.

Extension of Adrenocortical Carcinoma into the Right Atrium.

Adrenocortical carcinoma (ACC) is a rare and highly aggressive malignant neoplasm which can produce intravascular extension into the inferior vena cava (IVC) rarely extend into the right atrium (RA). We report a case of a male patient with large ACC with extension into the IVC and RA. Computed tomography showed a large right adrenal mass with contiguous tumor thrombus extending into IVC and RA with extension to the level of tricuspid valve. Patient underwent combined cardiac and abdominal surgical intervention on cardiopulmonary bypass with removal of the mass.

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.

EFFECTS OF RAMADAN FASTING ON BLOOD PRESSURE IN NORMOTENSIVE MALES.

BACKGROUND: Research has been done to investigate the effect of intermittent complete fasting on human physiological parameters but the effect of fasting on blood pressure remains relatively unexplored. Research in animal models suggests a hypotensive effect with an undetermined mechanism. Muslims worldwide fast daily from dawn to dusk throughout the Islamic month of Ramadan. This study was to investigate the proposed hypotensive effect of Ramadan fasting in males over A period of 20 days and to study the relationship of the pattern of blood pressure variation with body mass index change. METHODS: A repeated measures observational study design was implemented with convenient sampling. Study group included 40 normotensive, non-smoker males with no known comorbidities between the ages of 18-40 who fasted daily in the month of Ramadan. One set of BP readings, each, was taken one week before the start of Ramadan and on the 7th, 14th and 21st day of Ramadan which included pre and post Iftar measurements along with other variables. Data was analysed by repeated measures ANOVA using SPSS. The differences were compared with critical values generated by Tukey's Method. RESULTS: There was a significant drop in systolic BP of 7.61 mmHg before Iftar, 2.72 mm-Hg after Iftar (p<0.005). There was a significant effect of Ramadan on diastolic BP (p<0.005), the drop being 3.19 mmHg. The drop in body mass index was significant only before Iftar at 0.3 kg/m2 (p<0.005). Pulse rate showed a significant drop of 7.79 bpm before Iftar and a significant rise of 3.96 bpm (p<0.005). CONCLUSIONS: Intermittent fasting causes a drop in both systolic and diastolic blood pressure in normotensive males.

Double lumen esophagus: a rare complication of gastroesophageal reflux disease.

Double lumen esophagus or esophagogastric fistula is a very rare endoscopic finding. Approximately 11 cases have been reported in the past. Formation of an esophagogastric fistula is predisposed by previous esophagogastric surgery, persistent gastroesophageal reflux, esophageal ulcer or esophageal carcinoma. Dysphagia and odynophagia are common symptoms. Endoscopy is the procedure of choice for diagnosis. Symptomatic management is the mainstay of treatment. Early diagnosis andmanagement of gastroesophageal reflux is essential to prevent reflux-related fistulas. We report the case of a 48-year-old man with a history of dysphagia who was found to have esophagogastric fistula on endoscopy. He was treated conservatively with proton pump inhibitors leading to symptomatic improvement.

Prevalence of mistreatment or belittlement among medical students--a cross sectional survey at a private medical school in Karachi, Pakistan.

BACKGROUND: Mistreatment or belittlement of medical students either by faculty or fellow students has often been reported. Perception of mistreatment has also been associated with increased degree of psychological morbidity. There is a lack of such studies being conducted amongst the medical students of Pakistan. The aim of this study was to determine the prevalence and forms of perceived mistreatment and presence of mental health morbidity in a private medical school in Pakistan. Also, any association between mental health morbidity and mistreatment was to be identified. METHODS: A cross sectional study was carried out on medical students from Aga Khan University Hospital, Karachi, Pakistan during the period of June-September 2007. A self administered questionnaire, adapted from Frank et al and Baldwin et al was distributed to a total of 350 students. The questionnaire consisted of three parts: the first dealing with the demographics of the population, the second concerning the various forms of mistreatment, while the third assessed the mental health of students using the General Health Questionnaire 12(GHQ12). Descriptive statistics were performed. The Chi-square test and Fisher's exact tests were applied. RESULTS: A total of 350 students were approached out of which 232 completed the questionnaire giving a response rate of 66.2%. Mistreatment was reported by 62.5% (145/232) of the respondents. Of these, 69.7% (83/145) were males and 54.9% (62/145) were females. There was a significant relationship between gender, year division, stress at medical school and possible use of drugs/alcohol and reported mistreatment but no statistical relationship was seen with psychiatric morbidity. The overall prevalence of psychological morbidity was 34.8% (77/221). CONCLUSION: This study suggests high prevalence of perceived mistreatment and psychological morbidity among Pakistani medical students. However, no association was found between these two aspects of medical student education. There is a need to bring about changes to make the medical education environment conducive to learning. Increased student feedback, support systems and guidance about progress throughout the year and the provision of adequate learning resources may provide help with resolving both of these issues.

Urbach-Wiethe disease: experience at a tertiary care hospital in Abbottabad, Pakistan.

BACKGROUND: Urbache-Wiethe disease (Lipoid Proteinosis) is a rare autosomal recessive disorder characterized by the deposition of an eosinophilic hyaline-like material in the skin, larynx, mucous membranes, brain, and other internal organs. METHODS: A survey of one year duration was carried out prospectively at the Department of Dermatology, Ayub Teaching Hospital Abbottabad to document cases of lipoid proteinosis. Cases were selected from the outpatients department on the basis of clinical presentation and were subjected to detailed examination and investigations after admission. RESULTS: Five cases were diagnosed as suffering from Lipoid Proteinosis over the study period. All had typical features of hoarseness, skin lesions and tongue involvement. All were born of consanguineous parents. Three (60.0%) cases also gave a history of involvement of other family members, particularly cousins. CONCLUSION: This rare disease occurs in Hazara Division of North West Frontier Province of Pakistan with an as yet undetermined frequency and clinical suspicion is warranted to diagnose cases with the typical presentation.