Identification of Variants and Mutational Analyses of Cardiac Myosin-binding Protein C (MYBPC3) Gene of Adult Bangladeshi Patients with Hypertrophic Cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is the most prevalent genetic hereditary cardiomyopathy characterized by sudden cardiac death. Mutations in the MYBPC3 gene are often the most prevalent genetic abnormality in HCM with a prevalence ranging from 20.0 to 42.0%. The mutation spectrum is available for different countries, but such studies are lacking in the Asian population including Bangladeshi patients. A cross-sectional descriptive study was conducted for mutation analysis of the whole MYBPC3 gene on a cohort of 75 HCM Bengali Bangladeshi probands through Next Generation Sequencing at the Genetic Research Lab of Bangabandhu Sheikh Mujib Medical University from 2016 to 2019. The structural and functional impact of the mutations was further analyzed by in silico process. We analyzed the data and found 103 variants in 102 locations in the MYBPC3 gene. Variants were identified in both the coding region and the non-coding region. We found one possibly novel variant in the MYBPC3 gene. The findings of this research will help to develop a genetic database of HCM which will help in the early diagnosis and proper management of HCM patients in Bangladesh. One pathogenic splice donor variant (47356592 C >T) was found in the intronic region. Among the variants in the coding region, one missense mutation was pathogenic (NP₋000247.2: p.Asp770Asn) which was found in seven patients and another one is of conflicting interpretations of pathogenicity (NP₋000247.2: p.Ser217Gly) which was found in two patients. We have identified one in-frame deletion (NP₋000247.2: p.Ala433del) that is possible a novel variant responsible for the development of HCM.

Echocardiographic Assessment of Valvular Involvement in Chronic Rheumatic Heart Disease in BSMMU, Bangladesh.

Rheumatic heart disease (RHD) is a disease of poverty, is almost entirely preventable, and is the most common cardiovascular disease worldwide in those under 25 years especially in the developing county like Bangladesh. RHD is caused by acute rheumatic fever (ARF) which typically results in cumulative valvular lesions that may present clinically after a number of years of sub-clinical disease. It has a progressive course and patients usually may require valve repair/replacement in future. Echocardiography is an easily available, non-invasive, widely used, standard tool for diagnosis and evaluation of RHD. But there is scarcity of echocardiographic study of Valvular Involvement in Chronic Rheumatic Heart Disease (CHRD) in Bangladesh. This study was aimed to utilize echocardiography as a tool to evaluate patients of CRHD in Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh. This observational study was conducted in the Department of Cardiology, BSMMU from September 2018 to August 2019. Echocardiography was done in each patient only once with VividE9®machine. Among 1350 echocardiography, 101 patients (7.5%) were diagnosed as RHD including post valve replacement patients. The mean age of the patients was 40±14 years and 64.34% were female. Mitral stenosis (MS) was the commonest lesion in 84.15% followed by mitral regurgitation (MR) in 66.33%, tricuspid regurgitation (TR) in 57.43%, aortic regurgitation (AR) in 49.51%, aortic stenosis (AS) in 26.74% and pulmonary regurgitation in 10.89%. The frequency of complications like pulmonary hypertension, heart failure, atrial fibrillation (AF), LA thrombus, stroke and infective endocarditis was 67.33%, 61.05%, 18.81%, 6.93%, 3.96% and 0.99% respectively. History of Rheumatic fever was present only in 10.89% patient. Mitral stenosis was the commonest lesion seen mostly in female and most common complication was pulmonary hypertension. Mean age of patients in this study was higher than other contemporary studies and frequency as well as severity of complications was also more in female.

Determinants of Pre-Hospital Delay after Myocardial Infarction in Bangladesh: A Rural Center Experience.

Determinants of pre-hospital delay after myocardial infarction, strictly among South-Asian rural community, till now is largely unknown. And Bangladesh is not an exception. It is a fact that though around two third of its population still live in villages, we do not know what factors are having influence on such delay. To find out these primers of time consumption before seeking medical help, this is a picture of a medical college hospital situated in a rural precinct. This cross-sectional analytical study was conducted among 98 patients came with Myocardial Infarction (MI) who had met inclusion and exclusion criteria from July 2019 and December 2019. Both STEMI & NSTEMI patients were selected as they have similar attributes. Data was collected in the coronary care unit using a preformed questionnaire. Among 98 MI patients, where 16 female and 82 male patients had average age 53±12 years. Average income rural community was around 100 USD. Almost 50% of sample were illiterate or below 5th grade. On average 6.6 hours (95% CI: 3.5-12.3) were required to reach CCU after symptom onset, whereas distance to first medical contact (FMC) was about 10.2 Km (95% CI: 6.4-16.2). Median distance to nearest PCI-capable hospital was 140 Km (IQR- 20 Km). Only 28% of patients could reach hospital within 2 hours, where 85% had onset of symptom while they were at home. Tertiary level medical college (74.5%) followed by Upazilla (Sub-urban) government health complex (22.4%) were frequent site of FMC. Principle mode of transport to hospital was CNG-three-wheeler (75% of cases). Logistic regression analysis showed only low literacy was as significant predictor about more than 2 hours pre-hospital delay (OR=2.58; p=0.043). Other factors such as low income (OR=2.51; p=0.126), diabetes mellitus (OR=2.99; p=0.059), female sex (OR=1.56; p=0.753), house wife (OR=1.88; p=0.547), previous MI (OR=1.52; p=1.000), symptom ignorance (OR=2.14; p=0.455) increases pre-hospital delay and distance to FMC <10 Km (OR=0.44; p=0.079) no significant prediction of pre-hospital delay after myocardial infarction. As rural community has less access to education low literacy has a significant impact on pre-hospital delay after myocardial infarction. So measures should be taken in rural areas through patient education and social awareness program regarding MI symptom and danger of delayed medical attention.

Comparison between 2D and 3D Echocardiographic Parameters used for Diagnostic and Therapeutic Purpose in Patients with Rheumatic Mitral Stenosis.

Rheumatic heart disease causes a substantial number of morbidity and mortality in South Asia. With the increasing urbanization & antibiotic availability, it is now in declining trends. The prevalence of Rheumatic Fever and Chronic Rheumatic Heart Disease in Bangladesh is 0.6 and 0.3 per thousand populations, respectively. Mitral valve is mostly involved in the rheumatic process, particularly in the form of mitral stenosis. Treatment options of mitral stenosis depend upon the severity of the disease. Echocardiography has a key role in determining the pattern, extent and severity of the involvement of the mitral valve apparatus. 2D and Doppler echocardiography are conventionally used. 3D echocardiography is more available nowadays. The heart being a complex three-dimensional structure, a 3D evaluation would definitely offer better visualization for accurate assessment of the severity of rheumatic mitral stenosis. There are many echocardiography based scoring systems are available for the assessment of the severity of rheumatic MS. Those are mostly 2DE based; among them, Wilkins is widely practiced. Real-time 3DE based score for mitral stenosis is developed recently. This cross-sectional observational study was done in the University Cardiac Centre, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh from May 2012 to October 2012. Considering all ethical issues, data were collected from 50 subjects who underwent transthoracic 2D and 3D Echocardiography for the assessment of the extent and severity of mitral stenosis. Precise measurement of the mitral valvular area is of a pivotal role in the assessment of severity, which is found almost similar by both 2DE (0.98±0.24cm²) and 3DE (0.92±0.23cm²). But in identifying calcification and its extent specifically commissural involvement is better detected by 3DE (p=0.002). Detail assessment of subvalvular involvement particularly chordal adhesion can better be done by 3DE (p<0.001). All of these have important contributions in formulating the most favorable therapeutic roadmap in chronic rheumatic MS. To make an efficient management plan and also for the confident prediction of complications, three-dimensional echocardiography has promising prospects and should be considered as an important adjuvant to the conventional two-dimensional echocardiography.

Successful outcome of pregnancy with mechanical heart valve with home heparin therapy.

There is high incidence of rheumatic valvular heart disease in developing countries like Bangladesh, for which large number of young females undergo valve replacement with mechanical prosthetic heart valve. Pregnancy with mechanical heart valve carries risk of warfarin embryopathy and increased incidence of maternal thrombo-embolism. We had successful outcome of pregnancy of a patient with mechanical prosthetic heart valve with home heparin therapy.