The Sarcomeric Human Cardiomyopathy Registry: Race Associated with Disease Expression and Clinical Outcomes Among Patients with Hypertrophic Cardiomyopathy

Soroush Seifirad, MD
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Hypertrophic cardiomyopathy (HCM) is the most common inherited genetic disorder of the myocardium, and the number one culprit of sudden cardiac death in athletes, particularly African Americans.

“Is race associated with differential disease expression, inequitable care provision, or disparate clinical outcomes among patients with hypertrophic cardiomyopathy?”

In order to answer the above question, Lauren A. Eberly, et al. studied 2,467 patients with hypertrophic cardiomyopathy. In a retrospective cohort study, black and white patients with hypertrophic cardiomyopathy from the US-based sites of the Sarcomeric Human Cardiomyopathy Registry from 1989 through 2018 compared in terms of baseline characteristics; genetic architecture; adverse outcomes such as cardiac arrest, cardiac transplantation or left ventricular assist device implantation, cardioverter-defibrillator implantation, all-cause mortality, atrial fibrillation, stroke,  prevalence and likelihood of developing heart failure; and receiving septal reduction therapies.

According to the results of this study (8.3 percent black; 91.7 percent white), published in the JAMA CARDIOLOGY (December 2019), compared with white patients, black patients with HCM were younger (mean age, 36.5 versus 41.9 years), were less likely to have sarcomere mutations (26.1 versus 40.5 percent), had a higher prevalence of New York Heart Association (NYHA) class III or IV heart failure at presentation (22.6 versus 15.8 percent) and were more prone to developing heart failure (hazard ratio, 1.45). Lower rates of genetic testing (26.1 versus 40.5 percent) have been observed in black patients. Although there were no racial differences in implantation of implantable cardioverter-defibrillators, the invasive septal reduction was less common among African Americans (14.6 versus 23 percent). Nevertheless, Black patients had fewer incidents of atrial fibrillation (35 [17.1 percent] versus 608 [26.9 percent].

The results of this study were in accordance with the previous studies that mentioned a higher prevalence of complicated hypertrophic cardiomyopathy in African Americans in contrast to the lower prevalence of HCM in this community.  Eberly, et al. believe that racial differences in disease expression and adverse clinical outcomes are not only because of different characteristics of the disease in African Americans but also inequities in clinical care provision might be responsible for these observed differences.

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Soroush Seifirad, MD, currently holds a Research fellowship at PERFUSE study group, Division of Cardiology, Department of Medicine, BIDMC, Harvard Medical School. He serves as Associate Editor-In-Chief for WikiDoc Project. Previously, he fulfilled a Research fellowship at Endocrinology and Metabolism Research Institute, Tehran University of Medical Sciences (TUMS), Iran. He also had an affiliation with the Department of Cardiology in Children Medical Center, an affiliated hospital of TUMS. His main research interest concerns inflammation and oxidative stress in Cardiopulmonary medicine but also translational medicine and disease modeling. Dr. Seifirad published more than 40 peer-reviewed articles which were cited 420 times (h-index: 12, i10-index: 16). His research has been published in several leading journals such as Frontiers in Physiology, Echocardiography, Pediatric Cardiology, Respiration, Clinical and Experimental Rheumatology, Clinical Toxicology, Journal of Diabetes and Metabolic Disorders, and Medical Hypotheses. Dr. Seifirad reviews for several journals such as BMJ case reports, Journal of Diabetes and Metabolic Disorders, Clinical and Experimental Toxicology, Iranian Journal of Public Health, Iranian Journal of Allergy, Asthma, and Immunology, etc.”
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