Sandeep Seth

Congenital Left Atrial Appendage Aneurysm: A Case Report and Brief Review of Literature

A 28-year-old woman with congenital aneurysm of the left atrial appendage was successfully treated by aneurysmectomy and is reported for its rarity. The exact diagnosis is relatively easy to make by contrast echocardiography, magnetic resonance imaging, and/or computerised tomographic angiography, provided the possibility is entertained. Because of supraventricular arrhythmias and systemic thromboembolism, surgical resection was deemed the best curative option to avoid further episodes and recurrence. Published reports detailing the diagnostic evaluation and surgical management for congenital left atrial appendage aneurysm are also discussed.

Next generation sequencing in cardiomyopathy: towards personalized genomics and medicine

Next generation sequencing (NGS) is perhaps one of the most exciting advances in the field of life sciences and biomedical research in the last decade. With the availability of massive parallel sequencing, human DNA blueprint can be decoded to explore the hidden information with reduced time and cost. This technology has been used to understand the genetic aspects of various diseases including cardiomyopathies. Mutations for different cardiomyopathies have been identified and cataloging mutations on phenotypic basis are underway and are expected to lead to new discoveries that may translate to novel diagnostic, prognostic and therapeutic targets. With ease in handling NGS, cost effectiveness and fast data output, NGS is now considered as a diagnostic tool for cardiomyopathy by providing targeted gene sequencing. In addition to the number of genetic variants that are identified in cardiomyopathies, there is a need of quicker and easy way to screen multiple genes associated with the disease. In this review, an attempt has been made to explain the NGS technology, methods and applications in cardiomyopathies and their perspective in clinical practice and challenges which are to be addressed.

Epidemiology of acute decompensated heart failure in India : The AFAR study (Acute failure registry study)

Objectives: There is a paucity of data on acute decompensated heart failure (ADHF) in Indian patients. We herein report the in-hospital and 6-month outcome of Indian patients admitted with ADHF. Methods: We prospectively enrolled consecutive patients with ADHF due to systolic dysfunction in the acute failure registry and followed them up for at least 6 months. We analyzed the data on death and hospitalization of the first 90 patients on death and hospitalization over 6-months. Results: A total of 90 patients were enrolled with a mean age of 53.5 ± 17. 7 years and the majority were male (63%). The mean left ventricular ejection fraction was 29.2± 11.9%. The in hospital mortality was 30.8%. Postdischarge 6-month major adverse event (re-hospitalization/mortality combined) and mortality rates were 39.5% and 26.3%, respectively. Conclusions: These data from a single referral center provide insights into the current status of acute HF care in India. We report a higher in-hospital and follow-up mortality rates in ADHF patients who present at younger ages than reported in Western literature.

Clinical characterization of Idiopathic Restrictive Cardiomyopathy having rare variant (E949K) in β-cardiac myosin heavy chain gene

Background Idiopathic Restrictive cardiomyopathy (IRCM) and hypertrophic cardiomyopathy (HCM) reflects the same or very similar disorders showing restrictive physiology with different names due to discretionary crosscuts in the LV wall thickness rather than two separate distinct diseases. The perspective of this study is to clinically evaluate the IRCM proband and comparison between the two distinct disease phenotype IRCM and HCM as an outcome of same genotype i.e.E949K in gene MYH7.

Rescue alcohol septal ablation in sepsis with multiorgan failure.

A 55 year old male patient with a diagnosis of hypertrophic cardiomyopathy was admitted with features of sepsis related to cholangitis. Initial management with intravenous (i.v.) fluids and antibiotics did not cause any change in his general condition mandating an emergency endoscopic retrograde cholangio-pancreatography (ERCP). After successful retrieval of CBD stone on ERCP, patient had massive upper gastrointestinal bleed leading to hypotension and shock. Addition of inotropes had led to further deterioration in his clinical status with a mean arterial BP falling to 44 mm of Hg. His echocardiography showed a resting left ventricular outflow tract (LVOT) gradient of 90 mm of Hg and thus was taken up for emergency alcohol septal ablation (ASA). Immediately after ASA, patient had significant decrease in LVOT obstruction and rise of systemic arterial pressures. After 10 days of antibiotic therapy patient was discharged with a residual LVOT obstruction of 28 mm of Hg.

Clinical and angiographic profiles and six months outcomes of smokers with acute ST segment elevation myocardial infarction undergoing primary percutaneous coronary angioplasty

Background Outcomes of primary percutaneous coronary intervention (PCI) for acute STEMI (ST-segment elevation myocardial infarction) in smokers are expected to be better than non-smokers as for patients of acute STEMI with or without fibrinolytic therapy. Objectives This comparative study was designed to evaluate the outcomes of primary PCI in patients with acute STEMI in smokers and non-smokers. Clinical and angiographic profile of the two groups was also compared. Methods Over duration of two year, a total of 150 consecutive patients of acute STEMI eligible for primary PCI were enrolled and constituted the two groups [Smokers (n = 90), Non-smokers (n = 60)] of the study population. There was no difference in procedure in two groups. Results In the present study of acute STEMI, current smokers were about a decade younger than non-smokers (p value = 0.0002), majority were male (98.9% vs 56.6%) were male with a higher prevalence of hypertension and diabetes mellitus (61.67% vs 32.28% and 46.67% vs 14.44%, p = 0.001) respectively. Smokers tended to have higher thrombus burden (p = 0.06) but less multi vessel disease (p = 0.028). Thirty day and six month mortality was non-significantly higher in smokers 4.66% vs 1.33% (p = 0.261) and 5.33% vs 2.66% (p = NS) respectively. Rate of quitting smoking among smokers was 80.90% at 6 months. Conclusion The study documents that smokers with acute STEMI have similar outcomes as compared to non smokers with higher thrombus burden and lesser non culprit artery involvement. Smokers present at much younger age emphasizing the role of smoking cessation for prevention of myocardial infarction.

Algorithms for cardiovascular disease prevention

Prevention of coronary artery disease requires control of risk factors. It is not enough to take out guidelines, it is necessary to implement the guidelines. There are a number of studies which have shown that quite often guidelines are not followed.In this article, we have abstracted the essence of the guidelines into simple to follow algorithms so that they are easy to remember and also teach. For Cardiovascular risk reduction, general measures include stopping smoking, perform 150 minutes of moderate activity per week and take a low fat and low salt diet. For hypertension: All classes of drugs are suitable but generally (NICE 2011) Angiotensin receptor blockers or Angiotensin converting enzyme inhibitors for young (<55 years), Beta blockers ( only if other compelling indications). In elderly (>55 years, many with isolated systolic hypertension) Calcium channel blockers, diuretics if needed , are prefered. Combinations are used if monotherapy does not work. For dyslipidemia: Statin benefit groups are defined and manifest coronary artery disease and Diabetics above 40 years should get high dose statins. Lipid levels are only tested to look for compliance or further intensification of regime. Diabetes: Metformin is the drug of choice, Sulfonylureas can be used in combination. Glyptins are also safe and can be used. Other drugs should be used with the help of the endocrinologist.

The story of heart transplantation: From cape town to cape comorin

Norman Shumway is widely regarded as the father of heart transplantation although the worlds first adult human heart transplant was performed by Christiaan Barnard, on December 3, 1967, at the Groote Schuur Hospital in Cape Town, South Africa. Adrian Kantrowitz performed the worlds first pediatric heart transplant on December 6, 1967 and Norman Shumway performed the first adult heart transplant in the United States on January 6, 1968, at the Stanford University Hospital. In India, PK Sen attempted the first heart transplant in humans soon after Christaan Barnaard but the first and subsequent patients died. The first successful heart transplant in India was by Dr. P Venugopal in 1994 at AIIMS, New Delhi. This was followed soon after by Dr. KM Cherian who also did the first pediatric and first heart lung transplant in India.

Epidemiology of cardiomyopathy - A clinical and genetic study of dilated cardiomyopathy: The EPOCH-D study

Background: Dilated Cardiomyopathy (DCM) is a genetic disorder where a heterogeneous group of cardiac-muscles are involved and is characterized by ventricular dilatation, impaired systolic function, reduced myocardial contractility with left ventricular ejection fraction (LVEF) less than 40%. Our study aims to report the Demographic, Clinical and Genetic profile of Indian Dilated Cardiomyopathy patients. Methodology: All patients were recruited with prior written informed consent and are of Indian origin. Results: In a total of 80 DCM patients, the prevalence was higher among males. In males, mean age of onset was comparatively less than females. In this cohort, 40% had familial inheritance. Sixty two percent of DCM patients belong to NYHA functional class II with ejection fraction (EF) ranging between 21-30% and, around one third of the patients had atrial fibrillation (AF). Genetic screening revealed a novel splice site mutation LMNA (c.639+ G>C) and a rare variant MYH7 (c.2769 C>T) in a patient and insilico analysis of both variants suggested functional changes that were considered pathogenic. We report 3% and 4% occurance of variants, each in LMNA and MYH7, where as reported frequencies of these genes are 6% LMNA and 4% MYH7. Conclusions: DCM is often familial and all possible candidate genes should be screened to identify mutations. Such type of exercise may help in the identification of mechanistic pathways. Next generation sequencing platforms may play an important role in this respect in future.

A novel donor site mutation in LMNA gene leading to severe form of Dilated Cardiomyopathy in a proband of a family from Bihar, India

Methods The proband underwent Echocardiography and ECG to confirm the diagnosis. 5ml blood was collected and DNA was extracted using Phenol-chloroform method. The hot spot regions exon 23 of MYH7 gene, exon3 and exon 4 along with the intron3 of LMNA gene were sequenced using Sanger sequencing (ABI 3730xl). ACE 287bpI/D and TNNT25bpI/D polymorphisms were also genotyped. In silico analysis of this novel mutation by using softwares, Human splicing finder (HSF) and MaxENT to understand the effect of mutation on splicing. The study was ethically approved by Institutional committee and informed written consent was taken from all participants.