A case report of a triad causing platypnoea-orthodeoxia syndrome.

BACKGROUND: Platypnoea-orthodeoxia syndrome (POS) is a rare condition characterized by hypoxaemia and dyspnoea when changing from a recumbent to an upright position. Diagnosis requires a high clinical suspicion and is often underdiagnosed. CASE SUMMARY: We report a case of POS in a 50-year-old woman with dyspnoea and new-onset atrial fibrillation. Oxygen saturation and dyspnoea worsened as she changed from a supine to a sitting position (96 vs. 86%, respectively). Transoesophageal echocardiography demonstrated enlargement of both atria and right ventricle with reduced systolic function and a large Chiari network (CN). Colour Doppler discovered severe tricuspid regurgitation with tenting and tethering of the valve leaflets. Finally, a bubble test revealed the cause of POS to be a patent foramen ovale along with the severe tricuspid regurgitant jet moving into the left atrium and favoured by the CN. Surgical closure of the foramen ovale resulted in the resolution of symptoms. DISCUSSION: Platypnoea-orthodeoxia syndrome is most commonly caused by a right-to-left shunt through an anatomical defect of the interatrial septum, typically a patent foramen ovale, combined with elevated right atrium pressure. This case illustrates an uncommon cause of POS in the absence of elevated atrium pressure due to the interplay of three key elements: a patent foramen ovale, tricuspid regurgitation, and the CN. Our aim is to alert physicians to the possibility of an intracardiac shunt as the cause of unexplained and/or refractory hypoxaemia related to position changes. Early recognition of this syndrome promotes timely treatment, greatly improving patient outcomes.

Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1.

BACKGROUND: Andersen-Tawil Syndrome type 1 (ATS1) is a rare arrhythmogenic disorder, caused by loss-of-function mutations in the KCNJ2 gene. We present here the largest cohort of patients with ATS1 with outcome data reported. OBJECTIVES: This study sought to define the risk of life-threatening arrhythmic events (LAE), identify predictors of such events, and define the efficacy of antiarrhythmic therapy in patients with ATS1. METHODS: Clinical and genetic data from consecutive patients with ATS1 from 23 centers were entered in a database implemented at ICS Maugeri in Pavia, Italy, and pooled for analysis. RESULTS: We enrolled 118 patients with ATS1 from 57 families (age 23 ± 17 years at enrollment). Over a median follow-up of 6.2 years (interquartile range: 2.7 to 16.5 years), 17 patients experienced a first LAE, with a cumulative probability of 7.9% at 5 years. An increased risk of LAE was associated with a history of syncope (hazard ratio [HR]: 4.54; p = 0.02), with the documentation of sustained ventricular tachycardia (HR 9.34; p = 0.001) and with the administration of amiodarone (HR: 268; p < 0.001). The rate of LAE without therapy (1.24 per 100 person-years [py]) was not reduced by beta-blockers alone (1.37 per 100 py; p = 1.00), or in combination with Class Ic antiarrhythmic drugs (1.46 per 100 py, p = 1.00). CONCLUSIONS: Our data demonstrate that the clinical course of patients with ATS1 is characterized by a high rate of LAE. A history of unexplained syncope or of documented sustained ventricular tachycardia is associated with a higher risk of LAE. Amiodarone is proarrhythmic and should be avoided in patients with ATS1.

Galectin-3 and ß-trace protein concentrations are higher in clinically unaffected patients with Fabry disease.

Current therapies have not shown benefit in organ damage reversal in Fabry disease (FD), but biomarkers could help risk stratification and prognosis. We investigated if several biomarkers of cardiac fibrosis, cardiac wall stress, myocardial injury, renal function and inflammation, are associated with early cardiac affectation in FD patients. We included FD patients from four cardiology outpatient clinics of southeastern Spain. At inclusion, Galectin-3 (Gal-3), N-terminal proB-type natriuretic peptide, high sensitivity troponin T (hsTnT), ß-trace protein (BTP) and interleukin-6 concentrations were measured. The relation of biomarkers concentrations with clinical features, cardiac involvement and organ affectation according to the Mainz Severity Score Index (MSSI) was investigated. 44 FD patients (n = 21 affected and n = 23 unaffected) were compared to age and sex-respectively matched healthy controls. Significant differences in biomarkers' concentration between FD groups were observed. Importantly, Gal-3 and BTP levels were higher in unaffected patients when compared with age and sex-matched healthy controls (both p < 0.05). All the biomarkers correlated with clinical features. When cut-off values for clinical affectation (measured as MSSI ≥ 20) were established, only hsTnT (OR 30.69, 95% CI 2.70-348.42) and male sex (OR 8.17, 95% CI 1.16-57.75) were independently associated with cardiac damage by multivariate regression analysis. Gal-3 and BTP levels are increased in unaffected FD patients compared to healthy controls. This suggests that these biomarkers could be useful for the early detection of cardiac affectation in FD patients. On the other hand, hsTnT and male sex are independent risk factors for established clinical cardiac damage in FD.

Miocardio rescatado tras angioplastia coronaria de rescate: cuantificación mediante resonancia magnética cardiaca / Reduction in 28 days and 6 months of acute myocardial infarction Mortality From 1995 to 2005. Data from PRIAMHO I, II and MASCARA registries

Introducción y objetivos. Cuando la fibrinolisis fracasa en pacientes con infarto de miocardio con elevación del ST, está indicadad la realización de una intervención coronaria percutánea (ICP) de rescate. Sin embargo, hay pocas evidencias sobre la cantidad del miocardio en riesgo que realmente puede rescatarse tras una ICP de rescate. Métodos. Se realizó resonancia magnética cardiaca en un plazo de 6 días a 50 pacientes consecutivos. La necrosis miocárdica se definió mediante la extensión de la captación tardía de contraste; el miocardio en riesgo, mediante la extensión del edema, y la cantidad de miocardio rescatado, mediante la diferencia entre el miocardio en riesgo y la necrosis miocárdica. Finalmente, el índice de miocardio rescatado (IMR) se obtuvo a partir de la fracción área en riesgo – tamaño de infarto/área en riesgo. Resultados. La media de tiempo transcurrido entre el inicio del dolor y la administración del fármaco fibrinolítico fue de 176 ± 113min; el tiempo de lisis-ICP de rescate fue de 209±122min; el tiempo de inicio del dolor-ICP fue de 390±152min. El área en riesgo fue del 37±13% y el tamaño del infarto, del 34,5±13%. El miocardio rescatado fue un 3±4% y el IMR, 9±8. El miocardio rescatado y el IMR fueron similares en los pacientes con una arteria permeable a la llegada al laboratorio de cateterismo (Thrombolysis in Myocardial Infarction [TIMI] 3) y en los que tenían un flujo TIMI ≤ 2 (el 3,3±3,6% y 8,2±6,9 [p=0,8] en los casos de TIMI 0-2 frente al 3±3,7% y 10,8±10,9 [p=0,31] en los de TIMI 3). No se observaron diferencias significativas entre los pacientes a los que se efectuó la ICP de rescate en un plazo corto y aquellos a los se intervino tras un intervalo mayor. Conclusiones. La cantidad de miocardio rescatado tras una ICP de rescate cuantificada mediante resonancia magnética cardiaca es muy pequeña. El largo tiempo entre el inicio del dolor y la apertura de la arteria relacionada con el infarto es la causa más probable de este efecto mínimo de la ICP de rescate (AU)

Introduction and objectives. To determine whether mortality from acute myocardial infarction has reduced in Spain and the possibly related therapeutic factors. Methods. Nine thousand, nine hundred and forty-nine patients with ST-segment elevation myocardial infarction admitted to the Coronary Care Unit were identified from PRIAMHO I, II and MASCARA registries performed in 1995, 2000 and 2005, with a 6 month follow-up. Results. From 1995 to 2005 patients were increasingly more likely to have hypertension, hyperlipidemia and anterior infarction, but age of onset and the proportion of females did not increase. Twenty-eight-day mortality rates were 12.6%, 12.3% and 6% in 1995, 2000 and 2005 respectively, and 15.3%, 14.6% and 9.4% at 6 months (both P-trend <.001). Multivariate analysis was performed and the adjusted odds ratio for 28-day mortality for an infarction occuring in 2005 (compared with 1995) was 0.62 (95% confidence interval: 0.44-0.88) whereas the adjusted hazard ratio for mortality at 6 months was 0.40 (95% confidence interval: 0.24-0.67). Other variables independently associated with lower mortality at 28 days were: reperfusion therapy, and the use of anti-thrombotic treatment, beta-blockers and angiotensin-converting enzyme inhibitors. The 28-day-6-month period had an independent protective effect on the following therapies: coronary reperfusion, and prescription of antiplatelet agents, beta-blockers and lipid lowering drugs upon discharge. Conclusions. Twenty-eight-day and six-month mortality rates fell among patients with ST-elevation myocardial infarction in Spain from 1995 to 2005. The possibly related therapeutic factors were the following: more frequent reperfusion therapy and increased use of anti-thrombotic drugs, beta-blockers, angiotensin-converting enzyme inhibitors and lipid lowering drugs (AU)

[Minimum salvaged myocardium after rescue percutaneous coronary intervention: quantification by cardiac magnetic resonance]. / Miocardio rescatado tras angioplastia coronaria de rescate: cuantificación mediante resonancia magnética cardiaca.

INTRODUCTION AND OBJECTIVES: When fibrinolysis fails in patients with ST elevation myocardial infarction, they are referred for a rescue percutaneous coronary intervention (PCI). However, there is still no evidence of how much myocardium potentially at risk we can actually salvage after rescue PCI. METHODS: Fifty consecutive patients. Cardiac magnetic resonance was performed within 6 days. Myocardial necrosis was defined by the extent of abnormal late enhancement, myocardium at risk by extent of edema, and the amount of salvaged myocardium by the difference between myocardium at risk and myocardial necrosis. Finally, myocardial salvage index (MSI) resulted from the fraction (area-at-risk minus infarct-size)/area-at-risk. RESULTS: The mean time elapsed between pain onset and fibrinolitic agent administration was 176 ± 113 min; time lysis-rescue=PCI 209 ± 122 min; time pain onset-PCI = 390 ± 152 min. The area at risk was 37% ± 13% and infarct size 34.5% ± 13%. Salvaged myocardium was 3% ± 4% and MSI 9 ± 8. Salvaged myocardium and MSI were similar between patients with the artery open on arrival at the catheterization lab (Thrombolysis in Myocardial Infarction [TIMI] 3) and those with TIMI flow ≤ 2 (3.3% ± 3.6% and 8.2 ± 6.9 in TIMI 0-2 vs 3.0% ± 3.7% and 10.8 ± 10.9 in TIMI 3; P=.80 and 0.31, respectively). No significant difference was observed between patients who went through rescue PCI within a shorter time and those with longer delay times. CONCLUSIONS: The myocardial salvage after rescue PCI quantified by cardiac magnetic resonance is very small. The long delay times between pain onset and the opening of the infarct-related artery with PCI are most probably the reason for such a minimal effect of rescue PCI.