Miocardiopatía Hipertrófica en ausencia de criterios de hipertrofia. Serie de casos / Hypertrophic cardiomyopathy in the absence of hypertrophy criteria. Case series

La miocardiopatía hipertrófica (MCH) es la miocardiopatía hereditaria más frecuente, su principal expresión fenotípica consiste en hipertrofia ventricular izquierda (HVI) en ausencia de condiciones de carga que la justifiquen. Cuando existe una variante genética patogénica se denomina MCH sarcomérica. Los criterios diagnósticos más aceptados son HVI ≥ 15 mm en cualquier segmento o ≥ 13 en ciertas condiciones, criterios que tienen tres inconvenientes: 1) La HCM es una patología donde la HVI es evolutiva, existiendo otros elementos más precoces, pero menos precisos, como criptas, bandas musculares y alteraciones de la válvula mitral y músculos papilares; 2) Pacientes de baja estatura pueden no alcanzar estos umbrales; 3) La MCH apical no queda siempre bien representada usando estos grosores, requiriendo indexar por tamaño del paciente y/o considerar la HVI relativa (relación grosor apical / basal que no debe superar 1). Presentamos una serie de casos con genotipo confirmado para MCH que no cumplen los criterios de HVI aceptados para MCH y donde se debe individualizar el diagnóstico considerando los tres elementos señalados.

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac condition; its phenotypic expression consists of ventricular hypertrophy (LVH) unrelated to loading conditions. In patients with a genetic pathogenic variant, the condition is termed sarcomeric HCM. Current diagnostic criteria are based on absolute left ventricular thickness, requiring ≥15 mm in any segment or ≥13 mm in particular conditions. These criteria have three pitfalls: 1) HCM is an evolving disease where LVH occurs gradually, with other early -but less precisephenotypic expressions such as myocardial crypts, muscular bands, or mitral and papillary muscle alterations; 2) Patients with short stature tend to have less LVH and do not reach the proposed thickness threshold. 3) Apical HCM is not correctly addressed in this cut-off as the heart tapers from base to apex, warranting indexing wall thickness to body size and using relative LVH in the apex (ratio from apex/base, abnormal,>1). This small case series includes three patients with a pathogenic genetic variant for HCM that doesn't satisfy the current criteria of LVH. For its precise assessment, the aforementioned points must be considered.

Familial dilated cardiomyopathy and lamin A/C gene / 国际儿科学杂志

Dilated cardiomyopathy(DCM) is one common type of children's cardiomyopathy,and it has a significant genetic and familial predisposition.There are more than twenty kinds of gene mutation having relation with familial DCM.LaminA/C is one of the mutant genes that is associated with familial DCM,which have more higher rate of sudden death.

Padrão circadiano dos episódios de taquicardia ventricular em portadores de cardiopatia chagásica / Circadian pattern of ventricular tachycardia episodes in patients with chagas heart disease

Cardiomiopatia chagásica crônica (CCC) causa arritmias ventriculares e morte súbita, sendo a mais freqüente causa de óbito em muitas áreas endêmicas1,2. A variação circadiana na incidência de arritmias ventriculares e morte súbita difere de acordo com o substrato (p. ex: picos matinais e noturnos na cardiopatia isquêmica e na cardiomiopatia dilatada não-chagásica). Cardioversores-desfibriladores implantáveis de terceira geração (CDI) conseguem registrar o dia e a hora de cada episódio de taquicardia ventricular (TV), permitindo uma análise dos padrões de ocorrência de taquiarritmias. O objetivo deste estudo foi avaliar a variação circadiana da TV espontânea em portadores de CCC tratados com CDI.

Chronic Chagas' cardiomyopathy (CCM) causes ventricular arrhythmias and sudden death, and constitutes the most frequent cause of death in many endemic areas1,2. The circadian variation in the incidence of ventricular arrhythmias and sudden death differs according to the substrate (e.g., morning and evening peaks in ischemic heart disease and non-Chagasic dilated cardiomyopathy). Third generation implantable cardioverter defibrillators (ICDs) have the ability to store the time and date of each ventricular tachycardia (VT) episode, enabling the patterns of ventricular tachyarrhythmia occurrence to be analyzed. The aim of our study was to evaluate the circadian variation of spontaneous VT in recipients of an ICD with CCM.

Evolução clínica de pacientes submetidos à ventriculectomia esquerda parcial / Outcome of Patients Submitted to Partial left Ventriculectomy

OBJECTIVE: To assess the efficacy of partial left ventriculectomy as a treatment for patients with end-stage heart failure. METHODS: From February to June 1995, 7 patients with end-stage heart failure underwent partial left ventriculectomy. Subsequently, patients underwent clinical evaluation every 2 months, and 2-dimensional echocardiography at the 6th and 12th months after cardiac surgery. All patients were given digitalis and diuretics at conventional doses, and captopril or enalapril at maximal tolerated doses. RESULTS: Two (28) patients died; 1 from cardiac arrhythmia associated with gastrointestinal hemorrhage, and the other suddenly. One (14) patient developed an embolic cerebrovascular accident. Four (57) patients were hospitalized for congestive heart failure; all of them had either decreased the daily dose of captopril or enalapril or discontinued the drugs by themselves. Twelve months after ventriculectomy, left ventricular ejection fraction values were greater and left ventricular diastolic dimension and functional class values lower than those found before cardiac operation. CONCLUSION: Beneficial effects of partial left ventriculectomy are observed one year after the surgical procedure. This technique, therefore, can be useful for the treatment of patients with end-stage heart failure.

Long-term follow-up study of percutaneous transluminal septal myocardial ablation for hypertrophic obstructive cardiomyopath / 中国介入心脏病学杂志

36 mm?Hg. No permanent cardiac pacemaker was implanted. Transit trifascicular was seen in 3 cases, of whom, 2 disappeared with 1 hour after the procedure and, 1 trifascicular disappeared with 3 days. Permanent branch blocks were demonstrated in 36% patients. Conclusion PTSMA was feasible for HOCM with controllable complications. Precise position was the key point to prevent the alcohol leakage which will induce large area myocardial infarction and cardiac shock. Further study was needed to appreciate the more long-term follow-up.