Hypertrophic cardiomyopathy (HCM) is a heterogeneous genetic heart muscle disease characterized by hypertrophy with preserved or increased ejection fraction in the absence of secondary causes. However, recent studies have demonstrated that a substantial proportion of individuals with HCM also have comorbid diabetes mellitus (~10%). Whether genetic variants may contribute a combined phenotype of HCM and diabetes mellitus is not known. Here, using next-generation sequencing methods, we identified novel and ultrarare variants in adiponectin receptor 1 (ADIPOR1) as risk factors for HCM. Biochemical studies showed that ADIPOR1 variants dysregulate glucose and lipid metabolism and cause cardiac hypertrophy through the p38/mammalian target of rapamycin and/or extracellular signal–regulated kinase pathways. A transgenic mouse model expressing an ADIPOR1 variant displayed cardiomyopathy that recapitulated the cellular findings, and these features were rescued by rapamycin. Our results provide the first evidence that ADIPOR1 variants can cause HCM and provide new insights into ADIPOR1 regulation.
Corynebacterium striatum (C. striatum) is a ubiquitous saprophyte with a potential to cause bacteremia. We report the first case of C. striatum endocarditis in a patient with congenital lymphedema and rheumatic heart disease.
Introduction: CAD is the leading cause of mortality in India. It affects Indians atleast a decade early compared to the western population. Other than the conventional risk factors, the prevalence of other risk factors like hyperhomocystenemia, lipoprotein(a), metabolic syndrome, insulin resistance and fatty liver was studied in a large registry of documented CAD in patients. To study the prevalence of insulin resi Objectives: stance syndrome and its association with NAFLD, lipoprotein (a) and homocysteine levels in young Indian patients who present with coronary artery disease It is a single centre prospective sub study of the PCAD . Materials and Methods: (Premature coronary artery disease) registry cohort at Jayadeva Institute. : 344 patients and Results 300 controls were studied. The mean age was 32 years. There were 45 females and 299 males in cases, 99 females and 201 males in control group. Smoking was seen in 138 cases compared to 16 controls which was disproportionately high in the cases group. 8% of cases had diabetes whereas only 1.6% of controls had diabetes. 10% of cases had positive family history of CAD compared to 0 in control group. 68% of cases had metabolic syndrome whereas 36% of controls had metabolic syndrome. Elevated serum homocysteine levels were seen in 49 when compared to 46 controls which was statistically signicant. (p <0.001). Homocysteine level more than 15 was seen in 68% of cases compared to 45% in controls which was statistically signicant.Serum lipoprotein a levels was signicantly higher in cases (mean of 52) compared to controls (mean of 26). Lp(a) level more than 30 was seen in 51% of cases compared to 27% of controls. HOMA IR was signicantly high in the cases group when compared to controls which was statistically signicant. Fatty liver grade 0 was seen in 25% of cases compared to 58% in controls. Fatty liver grade 1 was seen in 59% of cases compared to 37% in controls. Fatty liver grade 2 was seen in 15% of cases compared to 3.7% in controls, all were statistically signicant. Novel syndrome of AAIRS Conclusion: incorporating insulin resistance, NAFLD, Lipoprotein a and homocysteine was found to be statistically different between cases and controls. Hence, this can be used to predict the risk of premature coronary disease in young Indians To Aims: formulate a novel clinical syndrome titled Accelerated Atherosclerosis Insulin Resistance Syndrome (AAIRS) which will help to predict the risk of premature coronary heart disease in young Indians To study the prevalence of i Objectives: nsulin resistance syndrome and its association with NAFLD, lipoprotein (a) and homocysteine levels in young Indian patients who present with coronary artery disease
CONTEXT: Spontaneous coronary artery dissection (SCAD) is a non-atherosclerotic cause for acute coronary syndrome (ACS). Although a rare disease, due to increased awareness and early use of coronary angiography more cases are being picked up of late. Patient characteristics and management differ from those of typical ACS cases, hence recognition of SCAD is very important. AIM: To identify epidemiologic and clinical characteristics of patients with SCAD and determine outcomes. DESIGN: Data of 10002 patients who underwent coronary angiography (CAG) between 1st June 2018 and 31st May 2019 were retrospectively analysed to determine the cases of SCAD at Sri Jayadeva Institute of Cardiovascular Sciences & Research. Epidemiologic and clinical characteristics of 51 such patients with SCAD were then analysed. OUTCOME MEASURES: Clinical characteristics, predisposing factors, angiographic ndings RESULT: In 51 patients (08 women and 43 men) who were hospitalized for ACS, spontaneous dissection of coronaries was detected. The mean age for women was 49.75 years & 48.27 for men. Precipitating factors were hypertension in 14 patients (27.45%), dyslipidemia in 3 patients (5%) and smoking in 10 patients (19.60%). Diabetes was noted in 6 patients (11%). In 16 patients, the coronary angiography showed multivessel disease, while in 08 patients there were no signicant lesions in the coronary vessels. The left anterior descending (LAD) artery was the most commonly affected coronary artery (56.9%, 29 of 51 cases) followed by right coronary artery (35.3%,18 of 51 cases. Mid & distal segments were the common sites for dissection (85%, 44 of 51). CONCLUSION: SCAD was noted with similar incidence in our sample population as seen in previous studies. The incidence is more in men as opposed to other studies wherein females had a higher incidence. Risk factors like hypertension, dyslipidemia & diabetes were seen in a small percentage. LAD was the most common artery to be affected. Most patients were managed conservatively without the need for revascularization
Cardiac masses are rare, and they pose an interesting diagnostic and therapeutic challenge. The differentials vary from tumours – both primary and secondary, thrombus, infective vegetations, artifacts to cysts. They can present with obstructive symptoms, embolisation, constitutional symptoms or pericardial effusions. Multimodality imaging with echocardiogram, computed tomography (CT) and magnetic resonance imaging (MRI) help in diagnosis. Complete surgical resection is often the modality of choice in cases of tumours. Thrombolysis or surgical extraction is suitable in cases of thrombus in the right heart.
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