Background:Hypertrophic cardiomyopathy (HCM) is the most frequent type of cardiomyopathy. HCM is a disease of changing cardiac morphology that causes various form of cardiac dysfunction. HCM patients may remain asymptomatic and undiagnosed for a long time. If they become symptomatic, they commonly present with breathlessness, chest discomfort, and exertion. It is also responsible for the sudden cardiac death.Proper assessment of the functional status of the heart is required for proper management strategies of HCM. Objective: The objective of the study was to assess the IVS, PWT and LVEF in different cardiac phenotypes as well as to draw correlation among them. Materials and method:A descriptive cross-sectional study was undertaken on thirty-four adult Bangladeshi hypertrophic cardiomyopathy patients (thirty-one male, three female). The study was carried out in the Department of Anatomy, BSMMU. Diagnoses adult HCM patients were selected as study patients. Transthoracic echocardiography was done to assess the interventricular septal thickness (IVS), left ventricular posterior wall thickness (PWT) and left ventricular ejection fraction (LVEF). Result: The changes in the value of the left ventricular ejection fraction shows significant correlation with left ventricular posterior wall thickness,rather than the interventricular septal thickness. Conclusion:Though significant correlation between left ventricular ejection fraction and left ventricular posterior wall thickness was found, a large cohort study could be done to see the long term outcome of such correlation. University Heart Journal Vol. 15, No. 1, Jan 2019; 12-15

Background: Breast cancer is the most common malignancy and leading cause of death among women in Bangladesh. Mutations in BRCA genes increase the risk for breast cancer. A large number of distinct mutations and polymorphisms in the BRCA1 gene have been reported worldwide, a frameshift mutation in BRCA1 gene exon 2 (185delAG) is one of the commonly reported mutations. Therefore, the study was planned to determine the frequencies of mutation and polymorphisms in BRCA1 gene exon 2. Materials and Methods: A cross-sectional descriptive type of study was done on 100 adult Bengali Bangladeshi female patients with ductal carcinoma of breast of age range between 25 to 70 years by ‘selection checklist.’ Genomic DNA was isolated from the peripheral blood samples. Amplification of the desired sequence of BRCA1 exon 2 was checked in gel and then digested with restriction endonuclease enzyme (Hinfl). The fragments obtained were analyzed on a gel and photographed under UV light. Sanger sequencing was done on 10 blood samples for confirmation. Sequenced data was analyzed by Geneious Software version 11. Results: The onset of cancer was predominantly below 50 years and 44% of patients did not experience menopause as they developed cancer at a younger age. Gel photographs after enzyme digestion showed wild-type bands of 149bp in all samples. The chromatogram reveals wild-type sequence of exon 2 of BRCA1 gene. Conclusions: BRCA1 mutation status helps us in the cancer risk prediction, selection of therapeutic management and genetic counseling of the patients and families. Therefore, it is necessary to study the whole BRCA1 gene in our population.

Hypertrophic cardiomyopathy (HCM) is one of the most prevalent disorders responsible for sudden cardiac death. Presentation of the symptoms varies due to the degree of thickening, and functional ability of the cardiomyocytes. The aims of the current study were to assess the clinical features, and cardiac morphology. This was a descriptive study with some analytical components. Thirty-four adult HCM patients were included within a duration of four months by patient selection checklist. After informed written consent, relevant information was noted and analyzed. Frequency distribution of phenotypes were, 56% asymmetric septal hypertrophy, 29% concentric hypertrophy, and 15% apical hypertrophy. Breathlessness and chest discomfort were present in 56% and 62% patients respectively, and higher in asymmetric septal HCM. Palpitation was very frequent in concentric HCM (90%). ECG revealed left ventricular hypertrophy in 85% of patients, and 79% of them had ST change. The interventricular septal thickness was narrower in apical type (14.80mm). The posterior wall thickness was higher in concentric HCM (19.20mm). The left atrial size was smaller in Concentric type(34.60mm).

Hypertrophic Cardiomyopathy (HCM) is the common monogenic form familial pathological cardiac hypertrophy. HCM is an important cause of sudden cardiac death in the young adult and a major cause of morbidity in the elderly. We discuss here the molecular genetics and recent advances in the molecular genetics of HCM. HCM became the first cardiac disease for which a molecular genetic mechanism was identified. More than 100 mutations in nine genes, that encoding sarcomeric proteins have been identified in patients with HCM, which had led to the belief that HCM is a disease of contractile sarcomeric proteins of the cardiac muscle. Approximately two-thirds of all HCM cases are caused by the mutation of the myosin heavy chain (MyHC), cardiac troponin T (cTnT) and myosin binding protein-C (MyBP-C). Genotype-phenotype correlation studies suggest that mutations in the MyHC gene are associated with more extensive hypertrophy and a higher risk of SCD as compared to mutations in genes coding for other sarcomeric proteins, such as MyBP-C and cTnT. However, there is a noteworthy variability and factors, such as modifier genes and probably the environmental factors affect the phenotypic expression of HCM. The results of different functional studies suggest that in spite of the variety of the mutations, the initial defects in HCM is abnormal cardiac myocyte function. In this era of genetics and upcoming future of precision medicine, good knowledge of its molecular basis of any disease is crucial for patient management, and HCM is not different. Faridpur Med. Coll. J. Jan 2019;14(1): 44-49