Predisposition of Angiotensin-converting Enzyme Deletion/Deletion Genotype to Coronary Artery Disease with Type 2 Diabetes Mellitus in South India.

BACKGROUND: Worldwide, South Asians contribute to a high proportion of coronary artery disease (CAD) burden, mainly attributed to a high prevalence of diabetes. Early identification of such high-risk individuals would enable aggressive disease modification and prevention of complications. Definition of susceptible genotypes early in the course of disease may be one such avenue for reduction in morbidity and mortality from CAD. AIM: Our study was aimed to investigate the insertion/deletion polymorphism of angiotensin-converting enzyme (ACE I/D) gene and susceptibility to CAD in patients with type 2 diabetes mellitus (T2DM) in a South Indian population. SUBJECTS AND METHODS: ACE (I/D) genotyping was performed by polymerase chain reaction specific primer for 187 CAD patients and 185 age- and sex-matched controls. RESULTS: We observed that the ACE"II" genotype was found to be significantly associated with CAD patients (odds ratio [OR] = 1.689; P = 0.028). However, multiple logistic regression analysis revealed that ACE "DD" genotype was found to be most predominant risk factor for CAD patients with T2DM (OR = 6.118; P = 0.001). CONCLUSION: Our results showed that ACE (I/D) genotypes and alleles presented functional dimorphism in the development of CAD and CAD with T2DM patients in South India. This finding may be extremely useful in identifying subsets of patients where early aggressive treatment of risk factors is warranted.

A case of arrhythmogenic right ventricular cardiomyopathy-Naxos disease.

We present a case of arrhythmogenic right ventricular cardiomyopathy (ARVC)-Naxos disease. The patient is 21-year-old male with no history of previous heart disease admitted in a private hospital for rhythm disorder in heart. The condition was diagnosed as ventricular tachycardia (VT) and was treated with cardioversion. The patient was referred to our hospital for further evaluation. On examination patient had palmoplantar keratoderma, wooly hair, and dystrophic nails. The cardiovascular system examination was clinically normal. His electrocardiogram showed epsilon wave in lead V1; echocardiography showed hypo-echogenic tissues in the right ventricular (RV) apex and free wall; magnetic resonance imaging (MRI) investigation revealed fibrofatty replacement of RV free wall and dyskinetic RV wall with diastolic outbulging.

Two cases of Pompe's disease: case report and review of literature.

Glycogen storage disease type II (also called Pompe's disease or acid maltase deficiency) is an autosomal recessive metabolic disorder which causes an accumulation of glycogen in the lysosomes due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified in 1932. The build-up of glycogen causes progressive muscle weakness (myopathy) throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver, and nervous system. We are presenting two cases of infantile form of Pompe's disease with secondary hypertrophic cardiomyopathy (CMP). The first case was a 1-year-old female child who presented with Ross Class III heart failure (HF) of 3 months duration. Echocardiography (ECHO) showed concentric left ventricular (LV) hypertrophy, with the posterobasal segment more hypertrophic than the inter-ventricular septum and moderate pericardial effusion. The second case was a 2-month-old male child who presented with Ross Class II HF. His ECHO showed eccentric hypertrophy of the posterobasal left ventricle, with thickening of the mitral valve leaflets and the chordae with Grade I mitral regurgitation (MR). Both children were diagnosed to have Pompe's disease by blood alpha-glucosidase assay.

Plasma CRP level predicts left ventricular function and exercise capacity in patients with acute myocardial infarction.

BACKGROUND: C-reactive protein estimation can help in predicting short- and long-term prognosis after acute myocardial infarction. High plasma C-reactive protein level in the acute phase strongly indicates a poor clinical outcome of the patients with myocardial infarction. METHODS AND RESULTS: One hundred consecutive patients admitted with ST elevation myocardial infarction in the intensive coronary care unit in our hospital who were able to do symptom-limited treadmill test during early recovery phase were studied. Plasma C-reactive protein was measured at the time of admission by immunoturbidity method. The normal value of the C-reactive protein was taken as 0.8 mg/dl. Echocardiographic study was done on day three of admission and ejection fraction was estimated by modified Simpson's method. Symptom-limited treadmill exercise test was done in all the patients. Patients were classified into two groups based on level of C-reactive protein: those with low C-reactive protein level (1.26 +/- 0.91 mg/dl, n=40) and those with high C-reactive protein level (6.52 +/- 3.97 mg/dl, n=60). Ejection fraction was lower in high C-reactive protein group (46.7 +/- 11.9%) compared to low C-reactive protein group (56.9 +/- 7.7%) (p = 0.011). Exercise capacity was lower in high C-reactive protein group (2.8 +/- 1.4 METs) compared to low C-reactive protein group (5.5 +/- 2.5 METs) p = 0.027). CONCLUSIONS: C-reactive protein levels are an index of the severity of myocardial necrosis which translate to worse left ventricular function. Higher the C-reactive protein level, lower the ejection fraction and worse may be the prognosis.