The Expanding Spectrum of Dystrophinopathies: HyperCKemia to Manifest Female Carriers.

Background: X-linked dystrophinopathies have a wide spectrum of manifestation. The most common forms are severe Duchenne muscular dystrophy (DMD) and Becker's muscular dystrophy (BMD). However, less common manifestations are isolated cardiomyopathy, myalgia, cramps, rhabdomyolysis, hyperCKemia, and manifest female carriers. Materials and Methods: This case series is a part of an ongoing long-term prospective cohort of children with DMD and BMD from the year 2013. The clinical details are maintained in the clinic files and standard management protocols are followed. For this case series, clinical details were collected from the clinic files and recorded on a case record proforma. Details of cardiology, radiology, and genetic investigations were collected. Results: We report cases of classical DMD, BMD, manifest female carrier with proximal pelvic girdle weakness, a female carrier with isolated dilated cardiomyopathy, and infantile-onset asymptomatic hyperCKemia. We also report less common but notable clinical presentations of DMD, autism, intellectual disability, epilepsy, and asymptomatic transaminitis. Conclusions: It is important for clinicians to be aware of these less common clinical presentations for prompt diagnosis, and to avoid unnecessary investigations. Here, we report the clinical spectrum of dystrophinopathies seen in pediatric neuromuscular clinic and emphasize the variability and expanding knowledge about different manifestations of dystrophinopathies.

Clinical Profile with Angiographic Correlation in Naïve Acute Coronary Syndrome.

INTRODUCTION: Despite cardiovascular diseases having grown to epidemic proportions, there are few studies from India pertaining to Acute Coronary Syndrome (ACS), more so from the region of Purvanchal which is less developed with more poverty. Our study is first of its kind in this region of patients presenting for the first time with ACS. AIM: The present study was undertaken to study the clinical and angiographic characteristics of ACS patients of Purvanchal. MATERIALS AND METHODS: This was a prospective cohort study of 100 patients admitted with ACS. Patients were excluded if they had prior cardiac pathology like valvular heart disease, cardiomyopathy, pericardial disease, cor pulmonale, ischaemic heart disease or cardiac revascularisation. Patients who did not undergo angiography were excluded. Patients were divided into ST Elevation Myocardial Infarction (STEMI) and non STEMI (NSTEMI). Presentation delays as well as clinical characteristics analysed in each group were age, gender, presence or absence of diabetes mellitus, hypertension, dyslipidaemia, smoking, Body Mass Index (BMI), family history, duration of chest pain, and treatment received. RESULTS: Mean age of patients was 58.9 years with 27% below 50 years. Of the total 75% were males. Patients with STEMI were 65%. Median time to reach hospital was 24 hours with only 27% patients reaching hospital within 6 hours. Among patients with STEMI only 43% received fibrinolytic therapy. 23% patients had diabetes, 21% were hypertensive, 16% were smokers, family history of cardiovascular disease present in 11% and 21% had body mass index more than 30. Mean LDL was 115mg/dl and HDL 39mg/dl with 54% of patients having at least one risk factor. Factors favouring triple vessel involvement were female sex, higher age, smoking, presence of diabetes and NSTEMI. CONCLUSION: Indians develop ACS at earlier age. Precious time is lost before seeking treatment. There is a need for aggressive risk factor modification which along with health awareness will be the key to prevent premature cases of ACS and limit morbidity and mortality due to delayed treatment.

Metoprolol vs ivabradine in patients with mitral stenosis in sinus rhythm.

BACKGROUND: Severe mitral stenosis is usually symptomatic and is treated by BMV or surgery, whereas mild to moderate mitral stenosis is usually asymptomatic or mildly symptomatic and managed medically. Patients in the later group may become symptomatic during episodes of exercise and increased heart rate. Beta-blockers are frequently used in patients with mitral stenosis to control the heart rate and alleviate exercise-related symptoms. The objective of our study was to investigate the comparative efficacy of ivabradine versus metoprolol in patients with mitral stenosis in sinus rhythm. METHODS: We studied 97 patients of mitral stenosis in sinus rhythm presented with exertional symptoms. The effectiveness of Metoprolol was compared with ivabradine in alleviating these exertional symptoms in a randomized, open label non crossover study. We also assessed various stress ECG parameters, 24 hour Holter parameters and 2D Echo parameters to objectively compare the effects of ivabradine and metoprolol in these patients. RESULTS: Ivabradine and metoprolol both were effective in controlling exertional symptoms. Significant improvement in objective parameters like TMT (work capacity, baseline heart rate and maximal heart rate) and 2D echocardiography (right ventricular systolic pressure) are seen with both drugs. Ivabradine controls the exertional symptoms significantly more than metoprolol. On head to head comparison there was a significant benefit of working capacity and heart rate at maximal exercise in favour of ivabradine. CONCLUSIONS: Ivabradine should be strongly considered in medical management of mitral stenosis patients where beta blockers are contraindicated such as reactive airway disease. The cost of ivabradine is higher than metoprolol which might possess constraints as most of the rheumatic heat disease patients belong to low socio economic status.