Apical hypertrophic cardiomyopathy is a rare form of hypertrophic cardiomyopathy that involves thickening of the distal portion of the left ventricular wall. Most commonly seen in the Japan, with a prevalence rate of about 15% of all HCM patient, its incidence in the USA is approximately 3% of HCM cases. We report a case of a 46-year-old woman with history of hypertension who presented to emergency department with worsening dyspnea and orthopnea with features of left ventricular hypertrophy (LVH) and diffuse large T-wave inversions in the lateral leads on a 12-lead ECG. Further work up revealed severe concentric LVH, with near obliteration of the LV cavity. Ventriculogram showed severe symmetric hypertrophy of the mid to lower septum, extending to the apex of left ventricle with significant pressure gradient of at least 160 mmHg across the apex to mid septal cavity, with no significant gradient across the left ventricular outflow tract. These findings were consistent with apical hypertrophic cardiomyopathy. She was treated with verapamil and metoprolol and has remained asymptomatic over last 2.5 years of follow-up. Although the clinical presentation of AHCM can be variable and nonspecific; however, hallmark findings on ECG and echo can be extremely important in its diagnosis.Abbreviations: AHCM: Apical hypertrophic cardiomyopathy; ECG: Electrocardiogram; LVH: Left ventricular hypertrophy; LVOT: Left ventricular outflow tract
Background: Clopidogrel (Plavix) is an antiplatelet medication that is routinely used in patients with cardiovascular disease. Cytochrome P2C19 enzymes play a major role in its metabolism, which determines its varied therapeutic level and its effectiveness.Objectives: To customize clopidogrel therapy and evaluate its efficacy by using CYP2C19 genotypic and phenotypic information to improve clinical outcomes in patients.Methods: A total of 465 patients with underlying cardiovascular disease were selected from our out-patient cardiology clinic. DNA sequences of CYP2C19 were analyzed in 465 patients.Results: Of 465 patients, 183 were wild-type homozygous (*1/*1) and 18.8% gain-of function and 19.8% loss-of-function alleles in our patient population The following changes were made: 1) Switching to prasugrel in patients whose genotype noted them to be “Slow metabolizers. This medication adjustment improved clinical outcomes in this patient group.2) Discontinuing or lowering clopidogrel doses in patients whose genotypes noted them to be “Fast or ultra-fast metabolizes” to decrease bleeding risk. For those who were not on clopidogrel but carried abnormal allele(s), “clopidogrel caution” was documented. These individuals were followed up for 3 years and there has not been any cardiac clinical symptoms, cardiac death or excessive bleeding reported.Conclusions: Given the varied effectiveness of clopidogrel due to its metabolism by CYP2C19 enzyme, and the relatively high frequency of both gain-of-function (18.8%) and loss-of-function (19.8%) alleles in our patient population, we believe that genotyping CYP2C19 is clinically important in order to improve patient outcomes and minimize patient risk.
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