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E García-Molina, J Lacunza,
F Ruiz-Espejo,
M Sabater,
A García-Alberola,
Jr Gimeno,
F Cañizares,
A García,
P Martínez,
M Valdés,
I Tovar
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ABSTRACT: We aim to study the SCN5A gene in a cohort of Brugada syndrome (BS) patients and evaluate the genotype-phenotype correlation. BS is caused by mutations in up to 10 different genes, SCN5A being the most frequently involved. Large genomic rearrangements in SCN5A have been associated with conduction disease, but its prevalence in BS is unknown. Seventy-six non-related patients with BS were studied. Clinical characteristics and family risk profile were recorded. Direct sequencing and multiplex ligation-dependent probe amplification (MLPA) of the SCN5A gene for identification of mutations and larger rearrangements were performed, respectively. Eight patients (10.5%) had point mutations (R27H, E901K, G1743R (detected in three families), V728I, N1443S and E1152X). Patients with mutations had a trend toward a higher proportion of spontaneous type I Brugada electrocardiogram (ECG) (87.5% vs 52.9%, p = 0.06) and had evidence of familial disease (62.5%, vs 23.5%, p = 0.03). The symptoms and risk profile of the carriers were not different from wild-type probands. There were non-significant differences in the prevalence of type I ECG, syncope and history of arrhythmia in carriers of selected polymorphisms. None of the patients had any deletion/duplication in the SCN5A gene. In conclusion, 10.5% of our patients had mutations in the SCN5A gene. Patients with mutations seemed to have more spontaneous type I ECG, but no differences in syncope or arrhythmic events compared with patients without mutations. Larger studies are needed to evaluate the role of polymorphisms in the SCN5A in the expression of the phenotype and prognosis. Large rearrangements were not identified in the SCN5A gene using the MLPA technique.
Clinical Genetics 09/2012; · 3.13 Impact Factor
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ABSTRACT: 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.
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.
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.
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.
Catheterization and Cardiovascular Interventions 11/2011; 80(2):215-20. · 2.29 Impact Factor
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International journal of cardiology 11/2011; 158(2):e35-7. · 7.08 Impact Factor
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International journal of cardiology 07/2011; 151(3):356-7. · 7.08 Impact Factor
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ABSTRACT: 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.
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 death's circumstances were recorded. Autopsy and medical records were reviewed.
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%.
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.
Revista Espa de Cardiologia 03/2010; 63(3):268-76. · 2.53 Impact Factor
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ABSTRACT: 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.
Revista Espa de Cardiologia 01/2010; 63(1):107-10. · 2.53 Impact Factor
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Juan R Gimeno, Javier Lacunza,
Arcadi García-Alberola,
Maria C Cerdán,
Maria J Oliva,
Esperanza García-Molina,
María López-Ruiz,
Francisco Castro,
Josefa González-Carrillo,
Gonzalo de la Morena,
Mariano Valdés
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ABSTRACT: 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.
The American journal of cardiology 09/2009; 104(3):406-10. · 3.58 Impact Factor
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ABSTRACT: 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.
The American journal of emergency medicine 07/2009; 27(5):634.e1-3. · 1.54 Impact Factor
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ABSTRACT: 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.
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.
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.
In this high-risk population, CKD is independently associated with increased major bleeding and all-cause mortality following PCI-S.
Chest 11/2008; 135(4):983-90. · 5.25 Impact Factor
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ABSTRACT: 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.
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.
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.
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.
Revista Espa de Cardiologia 12/2004; 57(11):1035-44. · 2.53 Impact Factor
