Prognostic Value of Follow-up Measures of Left Ventricular Global Longitudinal Strain in Patients With ST-Segment Elevation Myocardial Infarction.

INTRODUCTION: After ST-segment elevation myocardial infarction (STEMI), follow-up imaging is currently recommended only in patients with left ventricular ejection fraction (LVEF) <40%. Left ventricular global longitudinal strain (LVGLS) was shown to improve risk stratification over LVEF in these patients but has not been thoroughly studied during follow-up. The aim of this study was to explore the changes in LVGLS after STEMI and their potential prognostic value. MATERIALS AND METHODS: Data were analyzed from an ongoing STEMI registry. Echocardiography was performed during the index hospitalization and 1 year after STEMI; LVGLS was expressed as an absolute value and the relative LVGLS change (ΔGLS) was calculated. The study end point was all-cause mortality. RESULTS: A total of 1,409 STEMI patients (age 60 ± 11 years; 75% men) who survived at least 1 year after STEMI and underwent echocardiography at follow-up were included. At 1-year follow-up, LVEF improved from 50% ± 8% to 53% ± 8% (P < .001) and LVGLS from 14% ± 4% to 16% ± 3% (P < .001). Median ΔGLS was 14% (interquartile range, 0.5%-32%) relative improvement. Starting 1 year after STEMI, a total of 87 patients died after a median follow-up of 69 (interquartile range, 38-103) months. The optimal ΔGLS threshold associated with the end point (derived by spline curve analysis) was a relative decrease >7%. Cumulative 10-year survival was 91% in patients with ΔGLS improvement or a nonsignificant decrease, versus 85% in patients with ΔGLS decrease of >7% (P = .001). On multivariate Cox regression analysis, ΔGLS decrease >7% remained independently associated with the end point (hazard ratio, 2.5 [95% CI, 1.5-4.1]; P < .001) after adjustment for clinical and echocardiographic parameters. CONCLUSIONS: A significant decrease in LVGLS 1 year after STEMI was independently associated with long-term all-cause mortality and might help further risk stratification and management of these patients during follow-up.

Sex-specific difference in cardiac function in patients with systemic sclerosis: association with cardiovascular outcomes.

BACKGROUND: Cardiovascular involvement is one of the leading causes of mortality in systemic sclerosis (SSc) and is reported to be higher in men as compared with women. However, the cause of this difference is largely unknown. The objective of this study was to assess sex differences in echocardiographic characteristics, including left ventricular global longitudinal strain (LV GLS), as a potential explanation of sex differences in outcomes. METHODS: A total of 746 patients with SSc from four centres, including 628 (84%, 54±13 years) women and 118 (16%, 55±15 years) men, were evaluated with standard and advanced echocardiographic examinations. The independent association of the echocardiographic parameters with the combined endpoint of cardiovascular events-hospitalisation/death was evaluated. RESULTS: Men and women with SSc showed significant differences in disease characteristics and cardiac function. After adjusting for the most important clinical characteristics, while LV ejection fraction and diastolic function were not significantly different anymore, men still presented with more impaired LV GLS as compared with women (-19% (IQR -20% to -17%) vs -21% (IQR: -22% to -19%), p<0.001). After a median follow-up of 48 months (IQR: 26-80), the combined endpoint occurred in 182 patients. Men with SSc experienced higher cumulative rates of cardiovascular events-hospitalisation/mortality (χ2=8.648; Log-rank=0.003), and sex differences were maintained after adjusting for clinical confounders, but neutralised when matching the groups for LV GLS. CONCLUSION: In patients with SSc, male sex is associated with worse cardiovascular outcomes even after adjusting for important clinical characteristics. LV GLS was more impaired in men as compared with women and potentially explains the sex difference in cardiovascular outcomes.

Sclerodermic Cardiomyopathy-A State-of-the-Art Review.

Systemic sclerosis (SSc) is a chronic autoimmune disorder with unknown triggering factors, and complex pathophysiologic links which lead to fibrosis of skin and internal organs, including the heart, lungs, and gut. However, more than 100 years after the first description of cardiac disease in SSc, sclerodermic cardiomyopathy (SScCmp) is an underrecognized, occult disease with important adverse long-term prognosis. Laboratory tests, electrocardiography (ECG) and cardiovascular multimodality imaging techniques (transthoracic 2D and 3D echocardiography, cardiac magnetic resonance (CMR), and novel imaging techniques, including myocardial deformation analysis) provide new insights into the cardiac abnormalities in patients with SSc. This state-of-the-art review aims to stratify all the cardiac investigations needed to diagnose and follow-up the SScCmp, and discusses the epidemiology, risk factors and pathophysiology of this important cause of morbidity of the SSc patient.

Screening for Pulmonary Hypertension in Systemic Sclerosis-A Primer for Cardio-Rheumatology Clinics.

Systemic sclerosis (SSc) is a rare disease, with unfavorable clinical course and prognosis, characterized by progressive multisystemic involvement. SSc associated pulmonary hypertension (SSc-PAH) and interstitial lung disease (ILD) are the most important factors for morbi-mortality in these patients, being responsible for more than 60% of total deaths. Though pulmonary arterial hypertension (PAH) is the dominant subtype seen in SSc, PH secondary to ILD, left-heart pathology, and pulmonary veno-occlusive disease (PVOD) are also possible occurrences. Initial evaluation of a SSc case is complex and should be performed with a multidisciplinary approach. Early detection of SSc-PAH is imperative, given the fact that new and effective medications are available and early treatment was shown to improve outcomes. Therefore, screening algorithms must be used adequately and in a cost-effective manner. Sensitivity and negative predictive value (NPV) are the most important performance measures in a screening test. Several algorithms were developed in the last decade (e.g., DETECT and ASIG) and demonstrated higher efficiency when compared to older algorithms. The present manuscript details the risk factors for SSc-PAH and includes a critical description of current detection algorithms, as a primer for clinicians working in the field of cardio-rheumatology.

Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy - a case report.

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a genetic disorder mostly caused by sarcomeric gene mutations, but almost 10% of cases are attributed to inherited metabolic and neuromuscular disorders. First described in 2008 in an American-Italian family with scapuloperoneal myopathy, FHL1 gene encodes four-and-a-half LIM domains 1 proteins which are involved in sarcomere formation, assembly and biomechanical stress sensing both in cardiac and skeletal muscle, and its mutations are responsible for a large spectrum of neuromuscular disorders (mostly myopathies) and cardiac disease, represented by HCM, either isolated, or in conjunction with neurologic and skeletal muscle impairment. We thereby report a novel mutation variant in FHL1 structure, associated with HCM and type 6 Emery-Dreifuss muscular dystrophy (EDMD). CASE PRESENTATION: We describe the case of a 40 year old male patient, who was referred to our department for evaluation in the setting of NYHA II heart failure symptoms and was found to have HCM. The elevated muscular enzymes raised the suspicion of a neuromuscular disease. Rigid low spine and wasting of deltoidus, supraspinatus, infraspinatus and calf muscles were described by the neurological examination. Electromyography and muscle biopsy found evidence of chronic myopathy. Diagnosis work-up was completed by next-generation sequencing genetic testing which found a likely pathogenic mutation in the FHL1 gene (c.157-1G > A, hemizygous) involved in the development of X-linked EDMD type 6. CONCLUSION: This case report highlights the importance of multimodality diagnostic approach in a patient with a neuromuscular disorder and associated hypertrophic cardiomyopathy by identifying a novel mutation variant in FHL1 gene. Raising awareness of non-sarcomeric gene mutations which can lead to HCM is fundamental, because of diagnostic and clinical risk stratification challenges.