Reparación mitral de la insuficiencia mitral isquémica con anillo Carpentier-McCarthy-Adams IMR ETlogix®: resultados ecocardiográficos a medio plazo / Mitral valve repair for ischemic mitral regurgitation using the carpentier-McCarthy-Adams IMR ETlogix® Ring: medium-term echocardiographic findings

En este estudio revisamos los fundamentos del anillo asimétrico Carpentier-McCarthy-Adams IMR ETlogix® en el tratamiento de la insuficiencia mitral isquémica crónica y exponemos la experiencia a medio plazo de nuestro centro. La mortalidad hospitalaria fue del 2,8%. El ecocardiograma al alta constató la ausencia de regurgitación mitral en el 88,8% de pacientes. Se obtuvo seguimiento clínico y ecocardiográfico (mediana, 23 meses; intervalo, 12-44 meses). El ecocardiograma de control tardío mostró recidiva de insuficiencia mitral de grado moderado en el 5,7% de pacientes y grado moderado-severo en el 2,9%. La supervivencia libre de recidiva de insuficiencia mitral >= 2+ fue del 95,2% a los 15 meses y del 88,9% a los 25 meses.La reparación mitral con anillo asimétrico Carpentier-McCarthy-Adams IMR ETlogix® en pacientes con insuficiencia mitral isquémica crónica permite una eficaz corrección de la regurgitación a través de cambios asimétricos en la morfología del anillo mitral, con excelentes resultados a medio plazo en cuanto al grado de competencia mitral (AU)

The aims of this study were to review the principles underlying use of the Carpentier-McCarthy-Adams IMR ETlogix® asymmetric annuloplasty ring for the treatment of chronic ischemic mitral regurgitation and to report medium-term clinical outcomes observed at our center. The in-hospital mortality rate was 2.8%. Echocardiography at hospital discharge confirmed the absence of mitral regurgitation in 88.8% of patients. Patients underwent clinical and echocardiographic followup (median duration, 23 months; range, 12-44 months). Late follow-up echocardiography demonstrated the recurrence of moderate mitral regurgitation in 5.7% of patients and of moderate-to-severe mitral regurgitation in 2.9%. The rate of survival free from recurrence of >=grade-2 mitral regurgitation was 95.2% at 15 months and 88.9% at 25 months. Mitral valve repair using the asymmetric Carpentier-McCarthy-Adams IMR ETlogix® ring in patients with chronic ischemic mitral regurgitation enabled regurgitation to be effectively corrected by producing asymmetric changes in the morphology of the mitral ring. Medium-term outcomes, with regard to the degree of mitral valve competence, were excellent (AU)

Mitral valve repair for ischemic mitral regurgitation using the Carpentier-McCarthy-Adams IMR ETlogix® ring: medium-term echocardiographic findings.

The aims of this study were to review the principles underlying use of the Carpentier-McCarthy-Adams IMR ETlogix® asymmetric annuloplasty ring for the treatment of chronic ischemic mitral regurgitation and to report medium-term clinical outcomes observed at our center. The in-hospital mortality rate was 2.8%. Echocardiography at hospital discharge confirmed the absence of mitral regurgitation in 88.8% of patients. Patients underwent clinical and echocardiographic follow-up (median duration, 23 months; range, 12-44 months). Late follow-up echocardiography demonstrated the recurrence of moderate mitral regurgitation in 5.7% of patients and of moderate-to-severe mitral regurgitation in 2.9%. The rate of survival free from recurrence of ≥grade-2 mitral regurgitation was 95.2% at 15 months and 88.9% at 25 months. Mitral valve repair using the asymmetric Carpentier-McCarthy-Adams IMR ETlogix® ring in patients with chronic ischemic mitral regurgitation enabled regurgitation to be effectively corrected by producing asymmetric changes in the morphology of the mitral ring. Medium-term outcomes, with regard to the degree of mitral valve competence, were excellent.

Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.

AIMS: The E101K mutation in the alpha-cardiac actin gene (ACTC) has been associated with apical hypertrophic cardiomyopathy (HCM). As prominent trabeculations were described in some carriers, we screened for the E101K mutation in our index patients with HCM, dilated cardiomyopathy (DCM), or left ventricular non-compaction (LVNC). METHODS AND RESULTS: Clinical, echocardiographic, and genetic screening by restriction fragment length polymorphism of the ACTC E101K mutation in 247 families with HCM, DCM, or LVNC. The mutation was found in five index patients (one with LVNC and four with HCM). Clinical and morphological data were obtained from 94 family members. Forty-six individuals had cardiomyopathy (43 with the mutation and three with no genetic study): 23 fulfilled criteria for LVNC, 22 were diagnosed as apical HCM, and one had been diagnosed as restrictive cardiomyopathy. There had been one heart transplant and one congestive heart failure death in patients with severe diastolic dysfunction, and five premature sudden deaths. The E101K mutation was not found in 48 unaffected relatives. Septal defects (eight atrial and one ventricular) were found in nine mutant carriers from four families, and were absent in relatives without the mutation (P = 0.003). CONCLUSION: LVNC and HCM may appear as overlapping entities. The ACTC E101K mutation should be considered in the genetic diagnosis of LVNC, apical HCM, and septal defects.

Prognostic value of exercise echocardiography in patients with diabetes mellitus and known or suspected coronary artery disease.

To assess the prognostic value of exercise echocardiography in subjects who had diabetes, we studied 214 patients who had 28 hard cardiac events (cardiac death in 15, myocardial infarction in 13) during a follow-up of 44 +/- 16 months. Independent risk factors for predicting cardiac events were insulin therapy (odds ratio 2.313), peak left ventricular ejection fraction (odds ratio 0.973), and ischemia detected by exercise echocardiography (odds ratio 2.513).

Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

LMNA mutations have been associated with familial or sporadic dilated cardiomyopathy (DC), with or without conduction system disease. We studied the LMNA gene in 67 consecutive patients with DC (18 had familial DC, 17 had possible familial DC, and 32 sporadic DC). From genomic DNA, coding regions of the LMNA gene were amplified by polymerase chain reaction, studied by single-strand conformation polymorphism, and cycle sequenced. Mutations were confirmed by restriction fragment length polymorphism. Two disease-causing mutations were found in families A and B. In family A, a novel R349L mutation was present in the mother and her identical twin daughters. They required cardiac transplantation at 36, 18, and 20 years of age. In family B, the R190W mutation was present in 2 cousins with DC and without conduction system disease (1 had cardiac transplantation at 45 years of age and 1 died suddenly at 46 years of age) and in 2 of their sons. The mothers of the 2 affected patients died due to cardiac causes in their 40s (1 died suddenly). One of the carriers fulfilled diagnostic criteria for isolated left ventricular noncompaction. Our data associated the R349L and R190W mutations in LMNA with severe forms of familial DC. LMNA mutations should be considered in the genetic screening of patients with familial DC without conduction system disease. Isolated left ventricular noncompaction may be part of the phenotypic spectrum of the laminopathies.

[Familial dilated cardiomyopathy in patients transplanted for idiopathic dilated cardiomyopathy]. / Miocardiopatía dilatada familiar en pacientes trasplantados por miocardiopatía dilatada idiopática.

OBJECTIVE: To evaluate the prevalence, clinical features, and pattern of inheritance of familial dilated cardiomyopathy (DCM) in heart transplant patients. PATIENTS AND METHOD: Patients with idiopathic DCM who had undergone heart transplantation were invited to participate. Patients with alcohol abuse were excluded. A clinical evaluation, 12-lead ECG, echocardiogram, blood tests, and DNA extraction were performed in patients and relatives. Familial DCM was defined as the presence of at least one relative with idiopathic DCM. Possible familial DCM was considered when at least one relative had left ventricular enlargement (LVE) (> 112% predicted LVEDD). RESULTS: One hundred and ninety-nine relatives of 43 families were studied. DCM was familial in 11 probands (25.6%) and possibly familial in 11 (25.6%). Fifteen relatives had DCM (7.5%), 26 (13.1%) LVE, and 5 (2.5%) hypertrophic cardiomyopathy. The pattern of inheritance was autosomal dominant in most families. Five probands (3 with familial DCM) had antecedents of consanguinity and possible recessive inheritance. Six probands (14%, 1 with familial DCM) had relatives with conduction system defects. Creatine kinase was moderately increased in 9 relatives (4.5%), 3 of them with LVE. Fifteen patients had at least moderate alcohol intake. Three of them had familial DCM (relatives without alcohol abuse) and 6 had possible familial DCM. CONCLUSIONS: The prevalence of familial DCM is high in patients who undergo heart transplant. Left ventricular enlargement, conduction system abnormalities, and elevated creatine kinase may be early markers of familial disease. Hypertrophic cardiomyopathy is present in some relatives of patients with idiopathic DCM. Familial DCM is present in patients with a previous diagnosis of alcoholic DCM.

Miocardiopatía dilatada familiar en pacientes trasplantados por miocardiopatía dilatada idiopática / Familial dilated cardiomyopathy in patients transplanted for idiopathic dilated cardiomyopathy

Objetivo. Estudiar la prevalencia de miocardiopatía dilatada (MCD) familiar en pacientes trasplantados, los patrones de herencia y características de la enfermedad en las familias identificadas. Pacientes y método. Los pacientes trasplantados por MCD idiopática fueron invitados a participar en el estudio: evaluación clínica, electrocardiograma, ecocardiograma y análisis de sangre en pacientes y familiares. Se define como MCD familiar la presencia de al menos un familiar con MCD idiopática y posible MCD familiar cuando algún familiar tiene dilatación ventricular izquierda (diámetro telediastólico > 112 por ciento del previsto) con función sistólica normal. Resultados. Participaron 199 familiares de 43 familias. Se diagnosticó MCD familiar en 11 familias (25,6 por ciento) y posible MCD familiar en 11 (25,6 por ciento). Quince familiares tenían MCD (7,5 por ciento), 26 (13,1 por ciento) dilatación ventricular izquierda, y cinco (2,5 por ciento) miocardiopatía hipertrófica. El patrón de herencia fue autosómico dominante en la mayor parte de las familias. En cinco existía consanguinidad y posible herencia autosómica recesiva. Seis casos tenían familiares con trastornos de conducción. Se registraron cifras de creatincinasa elevadas en 9 familiares (4,5 por ciento), tres con dilatación ventricular izquierda. Quince pacientes referían consumo de alcohol al menos moderado. Tres de ellos tenían MCD familiar y seis posible MCD familiar. Conclusiones. a) La prevalencia de MCD familiar es alta en pacientes sometidos a trasplante; b) la dilatación ventricular izquierda, anomalías del sistema de conducción y elevaciones de la creatincinasa pueden ser marcadores precoces de enfermedad familiar; c) algunos pacientes con MCD idiopática tienen familiares con miocardiopatía hipertrófica, y d) puede haber MCD familiar en pacientes con MCD asociada a consumo de alcohol (AU)

MRI of subendocardial perfusion deficits in isolated left ventricular noncompaction.

Ventricular noncompaction is a rare unclassified cardiomyopathy due to intrauterine arrest of compaction of the loose interwoven meshwork. It is characterized by markedly irregular endocardial surfaces with prominent trabeculations and intertrabecular recesses. Patients are asymptomatic or present with depressed ventricular function, ventricular arrhythmia, and systemic embolism. Areas of restricted myocardial perfusion have been previously documented by scintigraphy and positron emission tomography. This report documents a case of isolated left ventricular noncompaction with subendocardial perfusion deficits on MRI.

Hemodynamic Comparison by Doppler Echocardiography of Valves in the Aortic Position: Value of the Continuity Equation to Assess Prosthetic Dysfunction.

In 281 patients, we used Doppler echocardiography to compare the hemodynamic performance of different aortic prosthetic valves at three postoperative stages and investigated the value of the continuity equation in diagnosing aortic prosthetic obstruction. A baseline study was performed in 163 patients, a 5 +/- 2-month follow-up study was performed in 103 patients, and a 15 +/- 5-month follow-up study was performed in 65 patients. From baseline to the second study, left ventricular diastolic diameter, heart rate, and maximum (MG) and mean Doppler-derived gradient (MeG) decreased significantly, and left ventricular shortening fraction, systolic blood pressure, stroke volume, and prosthetic valvular area (PVA) increased significantly. No changes were found between the second and third studies. Thus, noninvasive hemodynamic values at the time of follow-up are reported in 171 patients: 86 with Björk-Shiley Monostrut, 27 with Carbomedics, 11 with Medtronic-Hall, 18 with Hancock modified, and 29 with Toronto valve bioprosthesis. Patients implanted with the Toronto had a larger prosthetic size (Monostrut 23 +/- 2 mm, Carbomedics 23 +/- 3 mm, Medtronic-Hall 23 +/- 2 mm, Hancock 23 +/- 2 mm, Toronto 25 +/- 2 mm, P < 0.01) despite a similar body surface area. MeG and MG were lower (MeG [in mmHg] Monostrut 12 +/- 5, Carbomedics 14 +/- 6, Medtronic-Hall 19 +/- 6, Hancock 11 +/- 4, Toronto 7 +/- 5; P < 0.01 between Toronto and all others), and PVA was greater (Monostrut 2.0 +/- 0.7 cm(2), Carbomedics 1.8 +/- 0.8 cm(2), Medtronic-Hall 1.6 +/- 0.7 cm(2), Hancock 1.7 +/- 0.5 cm(2), Toronto 2.2 +/- 0.9 cm(2); P < 0.01 between Toronto and Carbomedics, Medtronic-Hall, and Hancock), even compared with the same sizes in the other valves. A PVA of 0.9 cm(2) or less and MeG of 28 mmHg or more identified prosthetic obstruction with 100% sensitivity and 99% specificity. Hemodynamics change significantly from the early to the late postoperative state. The Toronto valve stentless porcine bioprostheses performs hemodynamically better than other valves. PVA measurement using the continuity equation may accurately identify prosthetic obstruction.