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Genetic markers in hypertensive hypertrophic cardiomyopathy

Background: The concept of hypertrophic cardiomyopathy came from observations on patients with systemic hypertension (HTN) where few patients developed inappropriate hypertrophy and even outflow tract obstruction. Over a period of time, research workers found that it is hereditary disorder and has no relationship with systemic HTN. However, many workers have observed that some patients with HTN have massive left ventricular hypertrophy disproportionate to the severity or duration of HTN. Materials and Methods: By using echocardiography, we identified inappropriate left ventricular hypertrophy in long-standing hypertensive patients. Markers of genetic abnormality were tested in those patients to find whether they differ from the usual hypertensive population. Results: We identified 29 hypertensive patients with severe concentric left ventricular hypertrophy (wall thickness, ≥1.6 cm). All patients were considered to have essential HTN. From these patients, we collected blood samples for detailed genetic study. Twenty-nine adult patients with age between 20 and 50 years of either sex with HTN on medications for 5 years or more were selected. Genotyping was done by sequencing. Genetic mutations were detected in 3 (11%) of 27 patients. myosin-binding protein of chromosome were detected in two patients, and mycophenolic acid xanthine hypoxanthine of igg was detected in one patient. Conclusion: In our study, we found that these genes are involved in hypertensive hypertrophic cardiomyopathy also. This suggests that patients with inappropriate left ventricular hypertrophy have a genetic involvement and all the family members should be screened.