Race, hypertensive disorders of pregnancy and outcomes in peripartum cardiomyopathy.

BACKGROUND: Black women with peripartum cardiomyopathy (PPCM) have a higher prevalence of hypertensive disorders of pregnancy (HDP) and worse clinical outcomes compared with non-Black women. We examined the impact of HDP on myocardial recovery in Black women with PPCM. METHODS: A total of 100 women were enrolled into the Investigation in Pregnancy Associated Cardiomyopathy (IPAC) study. Left ventricular ejection fraction (LVEF) was assessed by echocardiography at entry, 6, and 12-months post-partum (PP). Women were followed for 12 months postpartum and outcomes including persistent cardiomyopathy (LVEF ≤35%), left ventricular assist device, (LVAD), cardiac transplantation, or death were examined in subsets based on race and the presence of HDP. RESULTS: Black women with HDP were more likely to present earlier compared to Black women without HDP (days PP HDP: 34 ± 21 vs 54 ± 27 days, P = .03). There was no difference in LVEF at study entry for Black women based on HDP, but better recovery with HDP at 6 (HDP: 52 ± 11% vs no HDP: 40 ± 14%, P = .03) and 12-months (HDP:53 ± 10% vs no HDP:40 ± 16%, P = .02). At 12-months, Black women overall had a lower LVEF than non-Black women (P < .001), driven by less recovery in Black women without HDP compared to non-Black women (P < .001). In contrast, Black women with HDP had a similar LVEF at 12 months compared to non-Black women (P = .56). CONCLUSIONS: In women with PPCM, poorer outcomes evident in Black women were driven by women without a history of HDP. In Black women, a history of HDP was associated with earlier presentation and recovery which was comparable to non-Black women.

Cardiovascular Burden of the V142I Transthyretin Variant.

Importance: Individual cohort studies concur that the amyloidogenic V142I variant of the transthyretin (TTR) gene, present in 3% to 4% of US Black individuals, increases heart failure (HF) and mortality risk. Precisely defining carrier risk across relevant clinical outcomes and estimating population burden of disease are important given established and emerging targeted treatments. Objectives: To better define the natural history of disease in carriers across mid to late life, assess variant modifiers, and estimate cardiovascular burden to the US population. Design, Setting, and Participants: A total of 23 338 self-reported Black participants initially free from HF were included in 4 large observational studies across the US (mean [SD], 15.5 [8.2] years of follow-up). Data analysis was performed between May 2023 and February 2024. Exposure: V142I carrier status (n = 754, 3.2%). Main Outcomes and Measures: Hospitalizations for HF (including subtypes of reduced and preserved ejection fraction) and all-cause mortality. Outcomes were analyzed by generating 10-year hazard ratios for each age between 50 and 90 years. Using actuarial methods, mean survival by carrier status was estimated and applied to the 2022 US population using US Census data. Results: Among the 23 338 participants, the mean (SD) age at baseline was 62 (9) years and 76.7% were women. Ten-year carrier risk increased for HF hospitalization by age 63 years, predominantly driven by HF with reduced ejection fraction, and 10-year all-cause mortality risk increased by age 72 years. Only age (but not sex or other select variables) modified risk with the variant, with estimated reductions in longevity ranging from 1.9 years (95% CI, 0.6-3.1) at age 50 to 2.8 years (95% CI, 2.0-3.6) at age 81. Based on these data, 435 851 estimated US Black carriers between ages 50 and 95 years are projected to cumulatively lose 957 505 years of life (95% CI, 534 475-1 380 535) due to the variant. Conclusions and Relevance: Among self-reported Black individuals, male and female V142I carriers faced similar and substantial risk for HF hospitalization, predominantly with reduced ejection fraction, and death, with steep age-dependent penetrance. Delineating the individual contributions of, and complex interplay among, the V142I variant, ancestry, the social construct of race, and biological or social determinants of health to cardiovascular disease merits further investigation.

Association Between Race/Ethnicity and Severity of Illness in Pediatric Cardiomyopathy and Myocarditis.

INTRODUCTION: Previous reports demonstrate racial/ethnic differences in survival for children hospitalized with cardiomyopathy and myocarditis. The impact of illness severity, a potential mechanism for disparities, has not been explored. METHODS: Using the Virtual Pediatric Systems (VPS, LLC), we identified patients ≤ 18 years old admitted to the intensive care unit (ICU) for cardiomyopathy/myocarditis. Multivariate regression models were used to evaluate the association between race/ethnicity and Pediatric Risk of Mortality (PRISM 3). Multivariate logistic and competing risk regression was used to examine the relationship between race/ethnicity and mortality, CPR, and ECMO. RESULTS: Black patients had higher PRISM 3 scores on first admission (𝛽 = 2.02, 95% CI: 0.15, 3.90). There was no difference in survival across race/ethnicity over multiple hospitalizations. Black patients were less likely to receive a heart transplant (SHR = 0.65, 95% CI: 0.45-0.92). Black and unreported race/ethnicity had higher odds of CPR on first admission (OR = 1.64, 95% CI: 1.01-2.45; OR = 2.12, 95% CI: 1.11-4.08, respectively). CONCLUSION: Black patients have higher severity of illness on first admission to the ICU, which may reflect differences in access to care. Black patients are less likely to receive a heart transplant. Additionally, Black patients and those with unreported race/ethnicity had higher odds of CPR, which was not mediated by severity of illness, suggesting variations in care may persist after admission.

Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.

While newborns and children with hearing loss are routinely offered genetic testing, adults are rarely clinically tested for a genetic etiology. One clinically actionable result from genetic testing in children is the discovery of variants in syndromic hearing loss genes. EYA4 is a known hearing loss gene which is also involved in important pathways in cardiac tissue. The pleiotropic effects of rare EYA4 variants are poorly understood and their prevalence in a large cohort has not been previously reported. We investigated cardio-auditory phenotypes in 11,451 individuals in a large biobank using a rare variant, genome-first approach to EYA4. We filtered 256 EYA4 variants carried by 6737 participants to 26 rare and predicted deleterious variants carried by 42 heterozygotes. We aggregated predicted deleterious EYA4 gene variants into a combined variable (i.e. "gene burden") and performed association studies across phenotypes compared to wildtype controls. We validated findings with replication in three independent cohorts and human tissue expression data. EYA4 gene burden was significantly associated with audiometric-proven HL (p = [Formula: see text], Mobitz Type II AV block (p = [Formula: see text]) and the syndromic presentation of HL and primary cardiomyopathy (p = 0.0194). Analyses on audiogram, echocardiogram, and electrocardiogram data validated these associations. Prior reports have focused on identifying variants in families with severe or syndromic phenotypes. In contrast, we found, using a genotype-first approach, that gene burden in EYA4 is associated with more subtle cardio-auditory phenotypes in an adult medical biobank population, including cardiac conduction disorders which have not been previously reported. We show the value of using a focused approach to uncover human disease related to pleiotropic gene variants and suggest a role for genetic testing in adults presenting with hearing loss.

Neighborhood education status drives racial disparities in clinical outcomes in PPCM.

BACKGROUND: Peripartum cardiomyopathy (PPCM) disproportionately affects women of African ancestry. Additionally, clinical outcomes are worse in this subpopulation compared to White women with PPCM.  The extent to which socioeconomic parameters contribute to these racial disparities is not known. METHODS: We aimed to quantify the association between area-based proxies of socioeconomic status (SES) and clinical outcomes in PPCM, and to determine the potential contribution of these factors to racial disparities in outcomes. A retrospective cohort study was performed at the University of Pennsylvania Health System, a tertiary referral center serving a population with a high proportion of Black individuals. The cohort included 220 women with PPCM, 55% of whom were Black or African American. Available data included clinical and demographic characteristics as well as residential address georeferenced to US Census-derived block group measures of SES. Rates of sustained cardiac dysfunction (defined as persistent LVEF <50%, LVAD placement, transplant, or death) were compared by race and block group-level measures of SES, and a composite neighborhood concentrated disadvantage index (NDI). The contributions of area-based socioeconomic parameters to the association between race and sustained cardiac dysfunction were quantified. RESULTS: Black race and higher NDI were both independently associated with sustained cardiac dysfunction (relative risk [RR] 1.63, confidence interval [CI] 1.13-2.36; and RR 1.29, CI 1.08-1.53, respectively). Following multivariable adjustment, effect size for NDI remained statistically significant, but effect size for Black race did not. The impact of low neighborhood education on racial disparities in outcomes was stronger than that of low neighborhood income (explaining 45% and 0% of the association with black race, respectively). After multivariate adjustment, only low area-based education persisted as significantly correlating with sustained cardiac dysfunction (RR 1.49; CI 1.02-2.17). CONCLUSIONS: Both Black race and NDI independently associate with adverse outcomes in women with PPCM in a single center study. Of the specific components of NDI, neighborhood low education was most strongly associated with clinical outcome and partially explained differences in race. These results suggest interventions targeting social determinants of health in disadvantaged communities may help to mitigate outcome disparities.

Cardiac transplantation outcomes in patients with amyloid cardiomyopathy.

OBJECTIVE: Amyloid cardiomyopathy (ACM) is a progressive and life-threatening disease caused by abnormal protein deposits within cardiac tissue. The most common forms of ACM are caused by immunoglobulin derived light chains (AL) and transthyretin (TTR). Orthotopic heart transplantation (OHT) remains the definitive treatment for patients with end stage heart failure. In this study, we perform a contemporary multicenter analysis evaluating post OHT survival in patients with ACM. METHODS: We conducted a multicenter analysis of 40,044 adult OHT recipients captured in the United Network for Organ Sharing (UNOS) registry from 1987-2018. Patients were characterized as ACM or non-ACM. Baseline characteristics were obtained, and summary characteristics were calculated. Outcomes of interest included post-transplant survival, infection, treated rejection, and the ability to return to work. Racial differences in OHT survival were also analyzed. Unadjusted associations between ACM and non-ACM survival were determined using the Kaplan-Meier estimations and confounding was addressed using multivariable Cox proportional hazards models. RESULTS: Three hundred ninety-eight patients with a diagnosis of ACM were identified of which 313 underwent heart only OHT. ACM patients were older (61 vs 53; P < .0001) and had a higher proportion of African Americans (30.7% vs 17.6%; P < .0001). Median survival for ACM was 10.2 years vs 12.5 years in non-ACM (P = .01). After adjusting for confounding, ACM patients had a higher likelihood of death post-OHT (HR 1.39 CI: 1.14, 1.70; P = .001). African American ACM patients had a higher likelihood of survival compared to White ACM patients (HR 0.51 CI 0.31-0.85; P = .01). No difference was observed in episodes of treated rejection (OR 0.63 CI 0.23, 1.78; P = .39), hospitalizations for infections (OR 1.24 CI: 0.85, 1.81; P = .26), or likelihood of returning to work for income (OR 1.23 CI: 0.84, 1.80; P = .30). CONCLUSIONS: In this analysis of OHT in ACM, ACM was associated with a higher likelihood of post-OHT mortality. Racial differences in post-OHT were observed with African American patients with ACM having higher likelihood of survival compared to White patients with ACM. No differences were observed in episodes of treated rejection, hospitalization for infection, or likelihood to return to work for income.

Racial Disparities in Hospital Mortality Among Pediatric Cardiomyopathy and Myocarditis Patients.

Racially disparate health outcomes exist for a multitude of populations and illnesses. It is unknown how race and ethnicity impact mortality for children with cardiomyopathy or myocarditis. This retrospective cross-sectional study employed the Kids' Inpatient Database to analyze 34,617 hospital admissions for patients ≤ 18 years old with cardiomyopathy, myocarditis, or both, without concomitant congenital heart disease. Multivariate logistic regression models investigated the impact of race/ethnicity on in-hospital mortality adjusting for age, calendar year, sex, insurance type, diagnostic category, treatment at a pediatric hospital, and non-cardiac organ dysfunction. African American race and Hispanic ethnicity were independent risk factors for mortality (African American: odds ratio (OR) 1.25, 95% confidence interval (CI) 1.01-1.53 and Hispanic: OR 1.29, 95% CI 1.03-1.60). African American race was also found to be significantly associated with the use of extracorporeal membrane oxygenation (ECMO), mortality while on ECMO, and cardiac arrest. Adjusting the regression model for ECMO and arrest attenuated the impact of African American race on mortality, suggesting that these variables may indeed play a role in explaining the impact of race on mortality for African American patients with myocardial disease. Hispanic ethnicity remained associated with higher risk of mortality despite controlling for all mechanical circulatory support and transplant (OR 1.30, 95% CI 1.04-1.63). Children of racial and ethnic minorities hospitalized with cardiomyopathy or myocarditis are more likely to die than their white counterparts, a trend that may be due at least in part to in-hospital differences in care or response to therapy.

Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion.

BACKGROUND: T-wave inversion (TWI) is common in patients with cardiomyopathy. However, up to 25% of athletes of African/Afro-Caribbean descent (black athletes) and 5% of white athletes also have TWI of unclear clinical significance despite comprehensive clinical evaluation and long-term follow-up. The aim of this study was to determine the diagnostic yield from genetic testing, beyond clinical evaluation, when investigating athletes with TWI. METHODS: We investigated 50 consecutive asymptomatic black and 50 white athletes 14 to 35 years of age with TWI and a normal echocardiogram who were referred to a UK tertiary center for cardiomyopathy and sports cardiology. Subjects underwent exercise testing, 24-hour ambulatory ECG, signal-averaged ECG, cardiac magnetic resonance imaging, and a blood-based analysis of a comprehensive 311-gene panel for cardiomyopathies and ion channel disorders associated with TWI, including hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy, left ventricular noncompaction, long-QT syndrome, and Brugada syndrome. RESULTS: In total, 21 athletes (21%) were diagnosed with cardiac disease on the basis of comprehensive clinical investigations. Of these, 8 (38.1%) were gene positive (myosin binding protein C[ MYBPC3], myosin heavy chain 7 [ MYH7], galactosidase alpha [ GLA], and actin alpha, cardiac muscle 1 [ ACTC1] genes) and 13 (61.9%) were gene negative. Of the remaining 79 athletes (79%), 2 (2.5%) were gene positive (transthyretin [ TTR] and sodium voltage-gated channel alpha subunit 5 [ SCN5A] genes) in the absence of a clinical phenotype. The prevalence of newly diagnosed cardiomyopathy was higher in white athletes compared with black athletes (30.0% versus 12%; P=0.027). Hypertrophic cardiomyopathy accounted for 90.5% of all clinical diagnoses. All black athletes and 93.3% of white athletes with a clinical diagnosis of cardiomyopathy or a genetic mutation capable of causing cardiomyopathy exhibited lateral TWI as opposed to isolated anterior or inferior TWI; the genetic yield of diagnoses from lateral TWI was 12.3%. CONCLUSIONS: Up to 10% of athletes with TWI revealed mutations capable of causing cardiac disease. Despite the substantial cost, the positive diagnostic yield from genetic testing was one half that from clinical evaluation (10% versus 21%) and contributed to additional diagnoses in only 2.5% of athletes with TWI in the absence of a clear clinical phenotype, making it of negligible use in routine clinical practice.

Maternal and fetal prognosis of subsequent pregnancy in black African women with peripartum cardiomyopathy.

BACKGROUND: The aim of this study was to describe maternal and fetal outcomes after pregnancy complicated by peripartum cardiomyopathy (PPCM). METHODS: We included women that had subsequent pregnancy (SSP) after PPCM and assessed maternal prognosis and pregnancy outcomes, in-hospital up to one week after discharge. Clinical and echocardiographic data were collected comparing alive and deceased women. Factors associated with pregnancy outcomes were assessed. RESULTS: Twenty-nine patients were included, with a mean age of 26.7 ± 4.6 years and a mean gravidity number of 2.3 ± 0.5 of. At the last medical control before subsequent pregnancy, there was no congestive heart failure, the mean left ventricular diastolic diameter (LVDD) was 53 ± 4 mm and the left ventricular ejection fraction (LVEF) was ≥50% in 13 cases (44.8%). Maternal outcomes were marked by 14 deaths (48.3%). Among the factors tested in univariate analysis, LVEF at admission had an excellent receiver-operating characteristic (ROC) curve to predict maternal mortality (AUC = 0.95; 95% CI 0.87-1, p < 0.001), with a cut off value of < 40% (sensitivity = 93% and specificity = 87%). Concerning fetal outcomes, baseline LVEF had the best area under the curve (AUC) to predict abortion or prematurity among all variables (AUC = 0.75; 95% CI 0.58-092, p = 0.003), with a cut-off value of < 50% (sensitivity = 79%, specificity = 67%). CONCLUSIONS: SSP outcomes are still severe in our practice. Maternal mortality remains high and is linked to ventricular systolic function at admission (due to pregnancy), while fetal outcomes are linked to baseline LVEF before pregnancy.

Making the Quick Diagnosis: A Case of Neonatal Shock.

BACKGROUND: The work-up and initial management of a critically ill neonate is challenging and anxiety provoking for the Emergency Physician. While sepsis and critical congenital heart disease represent a large proportion of neonates presenting to the Emergency Department (ED) in shock, there are several additional etiologies to consider. Underlying metabolic, endocrinologic, gastrointestinal, neurologic, and traumatic disorders must be considered in a critically ill infant. Several potential etiologies will present with nonspecific and overlapping signs and symptoms, and the diagnosis often is not evident at the time of ED assessment. CASE REPORT: We present the case of a neonate in shock, with a variety of nonspecific signs and symptoms who was ultimately diagnosed with tachycardia-induced cardiomyopathy secondary to a resolved dysrhythmia. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: This case highlights the diagnostic and therapeutic approach to the critically ill neonate in the ED, and expands the differential diagnosis beyond sepsis and critical congenital heart disease. Knowledge of the potential life-threatening etiologies of shock in this population allows the Emergency Physician to appropriately test for, and empirically treat, several potential etiologies simultaneously. Additionally, we discuss the diagnosis and management of supraventricular tachycardia and Wolff-Parkinson-White syndrome in the neonatal and pediatric population, which is essential knowledge for an Emergency Physician.

Pregnancy-related cardiovascular deaths in California: beyond peripartum cardiomyopathy.

OBJECTIVE: Maternal mortality rates rose markedly from 2002 to 2006 in California, prompting an in-depth maternal mortality review in a state that comprises one twelfth of the US birth cohort. Cardiovascular disease has emerged as the leading cause of pregnancy-related death in the United States. The primary aim of this analysis was to describe the incidence and type of cardiovascular disease as a cause of pregnancy-related mortality in California. The secondary aims were to describe racial/ethnic and socioeconomic disparities, risk factors, birth outcomes, timing of death and diagnosis, and signs and symptoms of cardiovascular disease and identify contributing factors. STUDY DESIGN: The California Pregnancy-Associated Mortality Review retrospectively examined a case series of 64 cardiovascular pregnancy-related deaths from 2002 through 2006. Two cardiologists independently reviewed complete inpatient and outpatient medical records including laboratory, radiology, electrocardiogram, chest X-ray, echocardiograms, and autopsy findings for each cardiovascular death and classified cause of death by type of cardiovascular disease. Demographic data, racial disparities, risk factors, signs and symptoms, timing of diagnosis and death, birth outcomes, and contributing factors were analyzed using bivariate comparisons with noncardiovascular pregnancy-related deaths and population-based data. RESULTS: Among 2,741,220 California women who gave birth, 864 died while pregnant or within 1 year of pregnancy; 257 of the deaths were deemed pregnancy related, and of these, 64 (25%) were attributed to cardiovascular disease. There were 42 deaths caused by cardiomyopathy, and the pregnancy-related mortality rate from cardiomyopathy was 1.54 per 100,000 births. Dilated cardiomyopathy existed in 29 cases, of which 15 met the definition of peripartum cardiomyopathy. Women with cardiovascular disease were more likely than women who died from noncardiovascular causes to be African-American (39.1% vs 16.1%; P < .01) and more likely to use illicit substances (23.7% vs 9.4%; P < .01). Thirty-seven percent were obese and 20% had a concomitant diagnosis of hypertension or preeclampsia during pregnancy. Health care decisions in the diagnosis or treatment of cardiovascular disease during and after pregnancy contributed to the fatal outcomes. CONCLUSION: African-American race, substance use, and obesity were risk factors for pregnancy-related cardiovascular disease mortality. Chronic disease prevention and better recognition and response to cardiovascular disease during pregnancy are needed to reduce maternal mortality.

T wave inversions in athletes: a variety of scenarios.

Athletic intensive exercise is associated with repolarization changes affecting the ST-segment and T-wave morphology. The prevalence and distribution of these alterations are influenced by several demographic factors. One of the most challenging conundrums for both the cardiologist and the sports medicine physician is the correct interpretation of these repolarization changes to prevent an erroneous diagnosis with potentially serious consequences. A 12-lead electrocardiogram (ECG) demonstrating inverted T-waves may represent the first and only sign of such inherited heart muscle diseases, and may precede the detection of any structural changes in the heart, however, T-wave inversion in leads V1-V4 in black athletes may represent ethnic variation which is exaggerated by exercise.

Prevalence and Correlates of Myocardial Scar in a US Cohort.

IMPORTANCE: Myocardial scarring leads to cardiac dysfunction and poor prognosis. The prevalence of and factors associated with unrecognized myocardial infarction and scar have not been previously defined using contemporary methods in a multiethnic US population. OBJECTIVE: To determine prevalence of and factors associated with myocardial scar in middle- and older-aged individuals in the United States. DESIGN, SETTING, AND PARTICIPANTS: The Multi-Ethnic Study of Atherosclerosis (MESA) study is a population-based cohort in the United States. Participants were aged 45 through 84 years and free of clinical cardiovascular disease (CVD) at baseline in 2000-2002. In the 10th year examination (2010-2012), 1840 participants underwent cardiac magnetic resonance (CMR) imaging with gadolinium to detect myocardial scar. Cardiovascular disease risk factors and coronary artery calcium (CAC) scores were measured at baseline and year 10. Logistic regression models were used to estimate adjusted odds ratios (ORs) for myocardial scar. EXPOSURES: Cardiovascular risk factors, CAC scores, left ventricle size and function, and carotid intima-media thickness. MAIN OUTCOMES AND MEASURES: Myocardial scar detected by CMR imaging. RESULTS: Of 1840 participants (mean [SD] age, 68 [9] years, 52% men), 146 (7.9%) had myocardial scars, of which 114 (78%) were undetected by electrocardiogram or by clinical adjudication. In adjusted models, age, male sex, body mass index, hypertension, and current smoking at baseline were associated with myocardial scar at year 10. The OR per 8.9-year increment was 1.61 (95% CI, 1.36-1.91; P < .001); for men vs women: OR, 5.76 (95% CI, 3.61-9.17; P < .001); per 4.8-SD body mass index: OR, 1.32 (95% CI, 1.09-1.61, P = .005); for hypertension: OR, 1.61 (95% CI, 1.12-2.30; P = .009); and for current vs never smokers: 2.00 (95% CI, 1.22-3.28; P = .006). Age-, sex-, and ethnicity-adjusted CAC scores at baseline were also associated with myocardial scar at year 10. Compared with a CAC score of 0, the OR for scores from 1 through 99 was 2.4 (95% CI, 1.5-3.9); from 100 through 399, 3.0 (95% CI, 1.7-5.1), and 400 or higher, 3.3 (95% CI, 1.7-6.1) (P ≤ .001). The CAC score significantly added to the association of myocardial scar with age, sex, race/ethnicity, and traditional CVD risk factors (C statistic, 0.81 with CAC vs 0.79 without CAC, P = .01). CONCLUSIONS AND RELEVANCE: The prevalence of myocardial scars in a US community-based multiethnic cohort was 7.9%, of which 78% were unrecognized by electrocardiography or clinical evaluation. Further studies are needed to understand the clinical consequences of these undetected scars.

Interpretation of the coronary artery calcium score in combination with conventional cardiovascular risk factors: the Multi-Ethnic Study of Atherosclerosis (MESA).

BACKGROUND: The coronary artery calcium (CAC) score predicts coronary heart disease (CHD) events, but methods for interpreting the score in combination with conventional CHD risk factors have not been established. METHODS AND RESULTS: We analyzed CAC scores and CHD risk factor measurements from 6757 black, Chinese, Hispanic, and white men and women aged 45 to 84 years in the Multi-Ethnic Study of Atherosclerosis (MESA). CAC was associated with age, sex, race/ethnicity, and all conventional CHD risk factors. Multivariable models using these factors predicted the presence of CAC (C statistic=0.789) and degree of elevation (16% of variation explained) and can be used to update a "pretest" CHD risk estimate, such as the 10-year Framingham Risk Score, that is based on an individual's conventional risk factors. In scenarios in which a high CAC score is expected, a moderately elevated CAC score of 50 is reassuring (eg, reducing risk from 10% to 6% in a healthy older white man), but when a low/zero CAC score is expected, even with identical pretest CHD risk, the same CAC score of 50 may be alarmingly high (eg, increasing risk from 10% to 20% in a middle-aged black woman with multiple risk factors). Both the magnitude and direction of the shift in risk varied markedly with pretest CHD risk and with the pattern of risk factors. CONCLUSIONS: Knowledge of what CAC score to expect for an individual patient, based on their conventional risk factors, may help clinicians decide when to order a CAC test and how to interpret the results.

[The association of risk of development of cardiomyopathies with polymorphic variants of genes of angiotensin converting enzyme, glutathione-S-transferase, interleukins 8 and 10].

The article presents the results of study of association of risk of development and clinical course of cardiomyopathies with polymorphic variants of genes ACE, GSTM1, IL8 and IL10. The purpose of research was to find out molecular genetic markers of risk of development and clinical course of various types of cardiomyopathies. The analysis used the DNA samples extracted from lymphocytes of peripheral venous blood of patients with cardiomyopathies (N = 89) and control group (N = 426). The standard analysis techniques of polymerase chain reaction and restriction fragment length polymorphism were applied to detect polymorphic loci of genes candidates. It is established that genotype of DD-polymorphic locus of I/DgeneACE is a marker of development of ischemic cardiomyopathy. The allele D is a marker of development of increased rate of manifestation of extra-systoles, growth of inter-ventricular septum and reduction of fraction of discharge in patients with cardiomyopathies.

Social Vulnerability May Underlie Racial Disparities in Peripartum Cardiomyopathy Outcomes.

Objective: Black patients have disproportionately more cases of peripartum cardiomyopathy (PPCM) and more severe disease. To better understand these disparities, we examined the geographic distribution of patients with PPCM by race and evaluated associations between race and social vulnerability. We hypothesized that Black patients with PPCM are more likely than White patients to live in socially vulnerable communities. Study Design: A retrospective cohort study of patients with PPCM defined by the National Institutes of Health, National Heart, Lung, and Blood Institute was conducted at a single center from January 2000 to November 2017. The US census tract for each patient was identified, and social vulnerability was assessed using the Centers for Disease Control and Prevention Social Vulnerability Index (SVI). Higher SVI values represent a more vulnerable community. SVI and select subcomponents were compared by self-reported race. Results: Among 90 patients with PPCM (47 White, 43 Black), the ejection fraction at diagnosis was similar between groups, although Black patients were more likely to have an ejection fraction of ≤40% at 6 to 12 months postpartum. Black race was associated with living in areas of greater social vulnerability; mean SVI was significantly higher among Black individuals than among White individuals (.56 versus .33, P=.0003). Black patients lived in areas with more people living in poverty, higher unemployment, and more single-parent households. Conclusion: Black patients with PPCM were more likely to have persistent left ventricular dysfunction and live in areas of greater social vulnerability. Strategies to achieve equitable social determinants of health are needed to improve health outcomes in Black patients with PPCM.

Differences in clinical profile of African-American women with peripartum cardiomyopathy in the United States.

BACKGROUND: Peripartum cardiomyopathy (PPCM) is a rare and heterogeneous disease with a higher prevalence in African Americans (AAs) in the USA. The clinical features and prognosis of PPCM in AAs have not been sufficiently characterized. METHODS: We studied 52 AA patients with PPCM and compared clinical characteristics and outcome with those of 104 white patients. RESULTS: AA patients were significantly younger (26 ± 7 vs 30 ± 6 years; P < .001), had a higher prevalence of gestational hypertension (61% vs 41%; P = .03), and were diagnosed more commonly postpartum rather then antepartum (83% vs 64%; P = .03). The rate of left ventricular (LV) recovery (LV ejection fraction [LVEF] ≥50%) was significantly lower in AAs (40% vs 61%; P = .02). AA women also had a larger LV end-diastolic diameter (57 ± 10 vs 51 ± 6 mm; P = .004) as well as lower LVEF (40% ± 16.7% vs 46% ± 14%; P = .002) at the last follow-up. Moreover, AA patients had a significantly higher incidence of the combined end points of mortality and cardiac transplantation (P = .03) and showed a strong trend (P = .09) for increased mortality. CONCLUSIONS: AA patients with PPCM in the USA have a different clinical profile and worse prognosis compared with white patients. Further research to evaluate potentially correctable causes for these differences is warranted.

Abnormal electrocardiographic findings in athletes: recognising changes suggestive of cardiomyopathy.

Cardiomyopathies are a heterogeneous group of heart muscle diseases and collectively are the leading cause of sudden cardiac death (SCD) in young athletes. The 12-lead ECG is utilised as both a screening and diagnostic tool for detecting conditions associated with SCD. Fundamental to the appropriate evaluation of athletes undergoing ECG is an understanding of the ECG findings that may indicate the presence of an underlying pathological cardiac disorder. This article describes ECG findings present in cardiomyopathies afflicting young athletes and outlines appropriate steps for further evaluation of these ECG abnormalities. The ECG findings defined as abnormal in athletes were established by an international consensus panel of experts in sports cardiology and sports medicine.

Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management.

Mitochondrial disease refers to a heterogenous group of genetic disorders that result from dysfunction of the final common pathway of energy metabolism. Mitochondrial DNA mutations affect key components of the respiratory chain and account for the majority of mitochondrial disease in adults. Owing to critical dependence of the heart on oxidative metabolism, cardiac involvement in mitochondrial disease is common and may occur as the principal clinical manifestation or part of multisystem disease. Recent advances in our understanding of the clinical spectrum and genetic aetiology of cardiac involvement in mitochondrial DNA disease have important implications for cardiologists in terms of the investigation and multi-disciplinary management of patients.

Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS).

BACKGROUND: TRACS sought to describe the clinical outcomes and disease progression of transthyretin (TTR) cardiac amyloidosis (ATTR) in an observational study. Clinical course is largely determined by disease type with ATTR categorized as wild-type (ATTRwt) or genetic-variant protein (ATTRm). Prospective data are lacking in the most common TTR mutation, V122I, present in approximately 3.5% of African Americans. METHODS: Patients with ATTRwt (n = 18) and V122I ATTRm (n = 11) were longitudinally assessed every 6 months for up to 2 years by functional class assessments, biochemical markers, and echocardiography. RESULTS: At baseline, no differences in clinical characteristics, biomarkers, or echocardiographic parameters were noted between patients with ATTRwt and patients with ATTRm. After 15.5 ± 8 months, there were 11 deaths and 1 cardiac transplant, with higher mortality (73% vs 22%, P = .03) and cardiovascular hospitalization (64% vs 28%, P = .02) among patients with ATTRm. The median survival from diagnosis was 25.6 months for ATTRm vs 43.0 months for ATTRwt (P = .04). Univariate predictors of mortality included disease duration, heart rate ≥ 70 beats/min, baseline stroke volume, left ventricular ejection fraction <50%, and ATTRm status. For each 6-month increment, the mean 6-minute walk distance declined by 25.8 m, N-terminal pro b-type natriuretic peptide increased by 1,816 pg/mL, and left ventricular ejection fraction fell by 3.2%, for the entire cohort. CONCLUSIONS: In this prospective study, disease progression, morbidity, and mortality were observed in ATTR cardiomyopathy, particularly due to V122I, over a short duration. Given the prevalence of this mutation, further study of V122I in at-risk African American patients is warranted.