Holt-Oram syndrome was first described in 1960 as an association of familial heart disease and musculoskeletal abnormalities. The most important findings include atrial septal defects, atrioventricular conduction abnormalities, vascular hypoplasia, and upper limb musculoskeletal deformities. We report two patients with this syndrome in the same family and discuss the variability of the musculoskeletal abnormalities and their association with the cardiac morphologic defects. Both patients in this study had associated eosinophilia, which has not been reported in the literature.

Objetivos: Avaliar a indicação, sobrevida, qualidade de vida e arritmias após Ventriculectomia Parcial Esquerda (VPE) e relatar seu uso como ponte para transplante. Casuística e Métodos: Quarenta e um pacientes (pt) operados no período de dezembro de 1994 a dezembro de 1997,com idades de 32 a 70 anos, com miocardiopatia dilatada, classe funcional IV-92,6% e III-7,3% com contra-indicação para transplante e má qualidade de vida. Ecocardiogramas e estudos eletrofisiológicos (EEF) pré e pós-operatórios foram realizados. Clinicamente, agrupados pela NYHA e pelo Protocolo de Qualidade de Vida (QV). Resultados: Em 15 pacientes examinados aos 30 e 90 dias de pós-operatório por ecocardiograma obtivemos os dados da tabela abaixo: Sobrevida de 66%, 53%, 40% e 36,6% aos 3, 6, 12 e 24 meses, respectivamente. Aos 3 anos a mortalidade imediata e tardia é de 21,5 % e 42,1%,com total de 63,6 %. Menor mortalidade relacionada a arritmia quando não se conseguiu induzí-la no pós-operatório. A qualidade de vida melhorou (72,7 % em NYHA I e II e 81,8% em QV I e II) e dois foram transplantados posteriormente. Conclusões: Melhoraram a dinâmica cardíaca, a QV e a classe funcional (NYHA).O EEF identificou pacientes com maior risco de arritmias pós-operatórias. A sobrevida de 36% em 3 anos é encorajadora, levando-se em conta a gravidade dos casos. A seleção de pacientes não tem ainda critérios inequívocos.

Background: Batista Partial Left Ventriculectomy has been used as a surgical alternative in the treatment of end-stage heart failure. However as a novel procedure it ensues many questions and answers. Objectives: To evaluate surgical indication, survival, quality of life and the incidence of lifethreatening or fatal arrhythmias after partial left ventriculectomy and report its availability as a biological bridge to transplantation. Material and Methods: Forty-one patients were operated on from December 1994 to December 1997, ages ranging from 32 to 70 years, in whom a diagnosis of dilated cardiomyopathy was established. NYHA functional class IV (92.6%) and III (7.3%), contraindication to heart transplantation and poor quality of life were part of the inclusion criteria. Echocardiograms and electrophysiologic studies (EPS) were performed. They were clinically grouped according to their NYHA functional class and categorized concerning our own quality of life protocol. Results: A group of 15 patients showed sustained decrease in heart dimensions and functional parameters at 30 and 90 postoperative days, as follows: where FE = fractional shortening, EF = ejection fraction, LVED = left ventricular end-dimensions both diastolic and systolic. Survival was 66%, 53%, 40% and 36.6% at 3, 6, 12 and 24 months of follow-up, respectively. At the conclusion of this 3 year period the immediate and late mortalities are 21.5 % and 42.1 %, with an overall mortality of 63.6%. EPSs probably can predict less mortality rate due to ventricular arrhythmias when those are not induced postoperatively. Quality of life was better postoperatively (72.7 % in NYHA classes I and II and 81.8% in QOL I and II) and two patients were transplanted after primary PLVs. Conclusions: Cardiac dynamics, Quality of Life and NYHA functional classes improved in all survivors. EPSs can provide useful information concerning the probability of fatal ventricular arrhythmias and the need for implantable cardioverter-defibrillators. Survival is encouraging if we keep in mind the seriousness of this cohort of patients. Patient selection is still controversial.