Javier Lacunza

Penetrance and risk profile in inherited cardiac diseases studied in a dedicated screening clinic.

Genetically transmitted cardiomyopathies can affect several members in a family. Identification of high-risk patients could lead to a preventive treatment. We report the results of a 5-year experience of a dedicated clinic. Family screening was offered to 493 consecutive unrelated patients; 2,328 subjects (40 +/- 19 years old, 52% men) were evaluated (mean 4.4 relatives/family). Electrocardiography and echocardiography were performed in all cases; additional tests were indicated depending on the disease. Familial study was recommended because of a proband with hypertrophic cardiomyopathy (HC) in 57%, idiopathic dilated cardiomyopathy (IDC) in 14%, arrhythmogenic right ventricular cardiomyopathy (ARVC) in 2%, left ventricular noncompaction in 2%, Brugada syndrome (BS) in 15%, long QT syndrome (LQTS) in 3%, and other conditions in 6%. Familial disease was confirmed in 164 (39%); 43% with HC, 47% with IDC, 25% with ARVC, 33% with left ventricular noncompaction, 28% with BS, and 30% with LQTS. Two hundred twenty-two (44 +/- 20 years old, 60% men) affected relatives were identified (129 of whom were newly diagnosed). Sixty-four patients were newly diagnosed with HC, 40 with IDC, 2 with ARVC, 5 with left ventricular noncompaction, 14 with BS, and 2 with LQTS, in whom appropriate risk stratification and medication, if needed, were initiated (specific medication in 40, 31.0%). Cardioverter-defibrillator implantation was indicated in 4 relatives for primary prevention. Ninety-two (18.7%) had a family history of sudden death (FHSCD). Consanguinity was rare but significantly associated to a higher percentage of family disease (75.0% vs 38.3%, p = 0.003) and family history of sudden death (42.1% vs 17.8, p <0.001). In conclusion, the prevalence of familial disease in inherited cardiac conditions is high. Systematic familial study identified many asymptomatic affected patients who could benefit from early treatment to prevent complications. Dedicated clinics and multidisciplinary teams are needed for proper screening programs.

Intervencionismo coronario en lesiones severamente calcificadas mediante aterectomía rotacional y stent liberador de paclitaxel: resultados tras un año de seguimiento

Las lesiones severamente calcificadas dificultan el intervencionismo coronario. La aterectomia rotacional permite tratar estas lesiones y los stents liberadores de paclitaxel (SLP) reducen la reestenosis a largo plazo. Se evaluo retrospectivamente el resultado de la aterectomia rotacional y los SLP en lesiones severamente calcificadas en 50 pacientes consecutivos. Se estudio la mortalidad y la revascularizacion de la lesion tratada tras 1 ano (mediana, 14 meses; intervalo intercuartilico, 8,75-25,5). El 52% eran mayores de 70 anos; el 68%, varones; el 52% tenia sindrome coronario agudo; el 80%, enfermedad multivaso y un 44% recibio abciximab. Hubo 2 muertes intrahospitalarias, 3 en el seguimiento (una cardiaca) y 3 (6%) casos de revascularizacion de la lesion tratada. A 1 ano, la supervivencia libre de muerte cardiaca fue del 94% y la supervivencia libre de revascularizacion de la lesion tratada, del 94%; esto muestra que la estrategia de SLP y aterectomia rotacional en lesiones severamente calcificadas proporciona excelentes resultados.

Percutaneous Coronary Intervention in Heavily Calcified Lesions Using Rotational Atherectomy and Paclitaxel-Eluting Stents: Outcomes at One Year

Heavily calcified lesions present a challenge for percutaneous coronary intervention. With rotational atherectomy, it is possible to treat these lesions and paclitaxel-eluting stents (PESs) reduce the risk of restenosis over the long term. This retrospective study investigated clinical outcomes with rotational atherectomy and PESs in 50 consecutive patients with heavily calcified lesions. Mortality and target lesion revascularization at 1 year (median, 14 months; interquartile range, 8.75-25.5 months) were recorded. Some 52% of patients were aged over 70 years, 68% were male, 52% had acute coronary syndrome, 80% had multivessel disease and 44% were receiving abciximab. Two patients died in hospital, three died during follow-up (one cardiac death) and 3 (6%) underwent target lesion revascularization. At 1 year, the survival rate free of cardiac death was 94% and the survival rate free of target lesion revascularization was 94%. These findings demonstrate that the combination of rotational atherectomy and PESs gives excellent results in heavily calcified lesions.

Percutaneous coronary intervention with rotational atherectomy for severely calcified unprotected left main: immediate and two-years follow-up results.

Introduction: According to current practice guidelines, coronary bypass surgery is the standard care option for unprotected left main (ULM) stenosis. However, a group of high surgical risk patients who are not eligible for coronary bypass surgery could benefit from percutaneous coronary intervention (PCI). Severe calcification hampers PCI in this setting, and rotational atherectomy (RA) could be of great help. Methods: We retrospectively analyzed a cohort of 40 patients with severely calcified ULM stenosis, not eligible for coronary artery bypass grafting, who underwent RA in our center. Results: Forty patients (mean age, 73 ± 8 years; 26 males) with ULM stenosis were treated with RA. Twenty‐seven (67%) had distal stenosis. The mean number of treated vessels was 2.38 ± 0.74, with a mean lesion length of 30 ± 18 mm. Abciximab was used in 12 (30%) cases and an intra‐aortic balloon pump in three cases. One patient died during the procedure and another two patients died in the first 24 hr after the procedure. The major events registered after the procedure included one significant branch loss, and two minor and one major case of bleeding (the latter requiring transfusion) at the puncture point. After a median of 24.7 (IQR 19.6–34.3) months of follow‐up, 12 cardiac deaths were recorded. Survival free of cardiac death was 71 ± 7% and clinical guided target vessel revascularization 19.3 ± 7% at 2 years. Conclusion: In a group of high surgical risk patients, RA on severely calcified left main stenosis is feasible and, in spite of high mortality rates, could pose the only possible effective treatment.

Impact of Chronic Kidney Disease on Major Bleeding Complications and Mortality in Patients With Indication for Oral Anticoagulation Undergoing Coronary Stenting

BACKGROUND Patients with indications for oral anticoagulation (OAC) undergoing percutaneous coronary artery stenting (PCI-S) represent a high-risk population for major bleeding complications. Chronic kidney disease (CKD) is also associated with poor outcome after PCI-S. Limited data are available regarding the impact of CKD on the frequency of major bleeding and mortality in this population. METHODS We investigated the influence of CKD on major bleeding and all-cause mortality in patients with indication for OAC who undergo PCI-S. Patients were grouped according to calculated creatinine clearance (CrCl): CrCl > 60 mL/min, (n = 98) and CrCl < or = 60 mL/min, (n = 68). Major bleeding and major adverse vascular events (all-cause mortality, myocardial infarction, repeat revascularization, stent thrombosis, or stroke) were collected during follow-up. RESULTS We analyzed 166 consecutive patients with indication(s) for OAC (77% men; mean age, 71 years; range, 66 to 76 years) after undergoing PCI-S. CKD was associated with higher risk for major bleeding (hazard ratio [HR], 3.44; 95% confidence interval [CI], 1.50 to 7.93; p = 0.004) and all-cause mortality (HR, 3.50; 95% CI, 1.53 to 7.99; p = 0.003). In multivariate analyses, age > 75 years (HR, 2.75; 95% CI, 1.15 to 6.56; p = 0.023), CKD (HR, 2.59; 95% CI, 1.00 to 6.95; p = 0.049), anemia (HR, 2.36; 95% CI, 1.00 to 5.54; p = 0.049), and triple antithrombotic therapy (HR, 3.29; 95% CI, 1.23 to 8.84; p = 0.018) were independent predictors for major bleeding, whereas age > 75 years (HR, 2.38; 95% CI, 1.03 to 5.59; p = 0.046) and CKD (HR, 2.44; 95% CI, 1.03 to 5.82; p = 0.044) were predictors for all-cause mortality. CONCLUSION In this high-risk population, CKD is independently associated with increased major bleeding and all-cause mortality following PCI-S.

Heat stroke, an unusual trigger of Brugada electrocardiogram

A young male individual with diagnosis of heat stroke was admitted unconscious to hospital. Electrocardiogram (ECG) at admission demonstrated typical right bundle branch block and ST-segment elevation in V1 and V2 (coved morphology) diagnostic of Brugada syndrome. Maximal creatine kinase was 10,131 (IU/L); creatine kinase-MB, 15 (IU/L); troponin T, 0.039 ng/mL; and creatinine 1.6, mg/dL. Patient recovered from coma on day 6. Electrocardiogram normalized within the first 24 hours; no arrhythmias were documented. Echocardiogram before discharge was normal. Brugada ECG pattern can express intermittently, and challenge tests with a sodium channel blocker are often required for diagnosis. Ventricular arrhythmias and sudden death occur typically at night or during enhanced vagal activity. Fever has been related to polymorphic ventricular tachycardia particularly in children; nevertheless, prevalence is higher within males in their fourth to fifth decade. Mutations in SCN5A gene encoding a sodium channel can be found in up to 30% of cases. This sodium channel is sensitive to temperature changes. Sequencing of the gene failed to find any abnormality in our patient. A possible role of heat shock proteins in ion channels trafficking to cell membrane has been recently described. Despite diffuse ST-T deviations having been described in patients with heat stroke, localized right precordial leads ST elevation consistent with Brugada syndrome have not been reported. Recognition of typical ECG pattern is of importance because this syndrome is associated to an increased risk of sudden cardiac death.

Characteristics of Sudden Death in Inherited Heart Disease

INTRODUCTION AND OBJECTIVES Cardiomyopathy and channelopathy are major causes of sudden death (SD). The little information available on the context in which SD occurs has come from only a few referral centers. The objective was to investigate the circumstances surrounding SD in families with inherited heart disease. METHODS The study included 152 SD patients (mean age 43+/-19 years) from 103 families. The reasons for inclusion were resuscitated SD in 7%, recent SD in 8%, and a diagnosis of cardiomyopathy or channelopathy in a living relative in 72%. Also, 13% were athletes. Family trees were constructed and each deaths circumstances were recorded. Autopsy and medical records were reviewed. RESULTS Overall, 18% of SDs occurred during physical exercise, 32% during normal daily activities, and 37% during rest or sleep. There was a significant association between male sex and SD: 111 males (73%) vs. 41 females (27%; P=.03). Exercise-related SD was associated with young age (P=.01). The percentage of SDs associated with exercise, stress or normal daily activities was significantly greater with cardiomyopathy than channelopathy (61% vs. 41%; P=.057). All athletes were male and the majority died during exercise (50% vs. 11% of non-athletes; P=.0002). Patients with Brugada syndrome had the highest percentage of SDs during rest or sleep (i.e. 47%). No clear trigger could be identified in 33%. CONCLUSIONS SD was common in inherited heart disease, which accounted for a significant number of cases. Males clearly predominated over females (ratio 3:1) among SD cases (irrespective of pathological type). Most SDs occurred during exercise or normal daily activities in cardiomyopathies and during rest or sleep in channelopathies. The percentage of exercise-related SDs (i.e. 18%) was higher than expected.

Short- and Medium-Term Outcomes of Percutaneous Coronary Intervention for Unprotected Left Main Coronary Artery Disease in Patients Who Are Poor Candidates for Surgical Revascularization

INTRODUCTION AND OBJECTIVES Surgical revascularization is the procedure of choice for unprotected left main coronary artery stenosis, but it may be unsuitable in some patients. We report short- and medium-term outcomes of percutaneous coronary intervention for unprotected left main coronary artery stenosis in a series of patients who were poor candidates for surgery. PATIENTS AND METHOD Descriptive study of a historic cohort of consecutive patients with unprotected left main coronary artery stenosis who were not candidates for surgery, treated with percutaneous coronary intervention at a single center between April 1999 and December 2003. RESULTS A total of 83 patients (mean age 72 [9] years) were included. Twenty patients (24%) were in shock on presentation. Surgery was considered unsuitable because of unacceptable surgical risk, poor condition of the distal vessels or comorbid conditions in 61 (73.5%) patients, or acute myocardial infarction in 22 (27%). An intraaortic balloon pump was used in 34 (40%); abciximab in 30 (36%) and stenting in 79 (95%) procedures. The intervention was considered successful in 76 patients (92%). Total in-hospital mortality was 28.9% (55% in patients with acute myocardial infarction and 20% in those without acute myocardial infarction). Median follow-up was 17 months. Average survival was 19.7 (2) months. Eighteen (22%) patients were hospitalized again for a new ischemic event, and 14 (17%) underwent revascularization. In 9 cases (10.8%) a new angioplasty was performed, and in 5 (6.0%) surgical revascularization was necessary. CONCLUSIONS Percutaneous coronary intervention is an option for revascularization in left main coronary artery stenosis in patients who are poor candidates for surgery, although in-hospital and long-term mortality remain high.

Doppler peak-plateau morphology in pulmonary regurgitation flow with respiratory changes of its profile revealing hemodynamic features of restrictive cardiomyopathy.

Restrictive cardiomyopathy due to myocardial deposition of amyloid protein usually presents as right-sided heart failure. Prognosis in such cases is poor, but patients who receive specific treatment for the underlying condition causing amyloidosis seem to have a slightly better outcome [1]. Early diagnosis of restrictive ventricular physiology and it ultimate cause may be important for patient prompt useful management. In deposition cardiomyopathies, ventricular ejection fraction is usually preserved and end-diastolic ventricular volumes are normal or reduced. Raised filling pressure is the main compensatory mechanism to maintain cardiac output in such cases [2]. Distinguishing between constriction and restriction is a common challenge in healthcare practice [3], since clinical presentation is usually similar, and even typical causes of myocardial restriction may provoke true pericardial constriction [4]. Pulmonary regurgitation Doppler flow morphology depends on the pressure gradient between pulmonary artery and right ventricle. Echocardiography is able to record pulmonary regurgitation signal in more than 80% of studies [5]. High right ventricular end-diastolic pressure due to restrictive physiology has been shown to produce a distinctive morphology in continuous-wave Doppler tracings of pulmonary regurgitation, with prognostic value in the setting of right ventricular infarction [5]. Gilman et al. pointed out the respiratory

Procedural, Functional and Prognostic Outcomes Following Recanalization of Coronary Chronic Total Occlusions. Results of the Iberian Registry

INTRODUCTION AND OBJECTIVES There is current controversy regarding the benefits of percutaneous recanalization (PCI) of chronic total coronary occlusions (CTO). Our aim was to determine acute and follow-up outcomes in our setting. METHODS Two-year prospective registry of consecutive patients undergoing PCI of CTO in 24 centers. RESULTS A total of 1000 PCIs of CTO were performed in 952 patients. Most were symptomatic (81.5%), with chronic ischemic heart disease (59.2%). Previous recanalization attempts had been made in 15%. The mean SYNTAX score was 19.5 ± 10.6 and J-score was > 2 in 17.3%. A retrograde procedure was performed in 92 patients (9.2%). The success rate was 74.9% and was higher in patients without previous attempts (82.2% vs 75.2%; P = .001), those with a J-score ≤ 2 (80.5% vs 69.5%; P = .002), and in intravascular ultrasound-guided PCI (89.9% vs 76.2%, P = .001), which was an independent predictor of success. In contrast, severe calcification, length > 20mm, and blunt proximal cap were independent predictors of failed recanalization. The rate of procedural complications was 7.1%, including perforation (3%), myocardial infarction (1.3%), and death (0.5%). At 1-year of follow-up, 88.2% of successfully revascularized patients showed clinical improvement (vs 34.8%, P < .001), which was associated with lower mortality. At 1-year of follow-up, the mortality rate was 1.5%. CONCLUSIONS Compared with other national registries, patients in the Iberian registry undergoing PCI of a CTO showed similar complexity, success rate, and complications. Successful recanalization was strongly associated with functional improvement, which was related to lower mortality.