Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP).

BACKGROUND: Transthyretin amyloidosis (ATTR) is a multisystem disease caused by the deposition of fibrillar protein in organs and tissues. ATTR genotypes and phenotypes are highly heterogeneous. We present data on physical signs and symptoms, cardiac and neurological assessments and genetic profile of patients enrolled in the Transthyretin Cardiac Amyloidosis Registry of the State of São Paulo, Brazil. RESULTS: Six hundred-forty-four patients were enrolled, 505 with the variant form (ATTRv) and 139 with wild-type (ATTRwt). Eleven different mutations were detected, the most common being Val50Met (47.5%) and V142Ile (39.2%). Overall, more than half of the patients presented cardiac involvement, and the difference in this proportion between the ATTRv and ATTRwt groups was significant (43.9 vs. 89.9%; p < 0.001). The prevalence of the neurological phenotype also differed between ATTRv and ATTRwt (56.8 vs. 31.7%; p < 0.001). The mixed phenotype was found in 25.6% of the population, without a significant difference between ATTRv and ATTRwt groups. A group of patients remained asymptomatic (10.4%), with a lower proportion of asymptomatic ATTRwt patients. CONCLUSIONS: This study details the clinical and genetic spectrum of patients with ATTR in São Paulo, Brazil. This preliminary analysis highlights the considerable phenotypic heterogeneity of neurological and cardiac manifestations in patients with variant and wild-type ATTR.

Focused Endocardial Septal Ablation: A New Technique to Treat Postmyectomy Recurrent Gradient.

This report describes the case of a 64-year-old woman with a previous diagnosis of obstructive hypertrophic cardiomyopathy who underwent surgical myectomy but who had a persistent midventricular residual gradient. The patient was symptomatic despite medical treatment and chose to undergo percutaneous radiofrequency (RF) ablation focused on the gradient. RF delivery was performed, and the gradient was reduced from the initial 105/68 mm Hg (during Valsalva maneuver/at rest before ablation) to 24/10 mm Hg. This reduction was sustained for the next 12 months. Percutaneous RF ablation may be a reasonable option for second surgical myectomy, and the protocol can be easily reproduced.

Transplante cardíaco no Instituto Dante Pazzanese de Cardiologia: análise da sobrevida / Heart transplantation at Instituto Dante Pazzanese de Cardiologia: analysis of survival

CASUíSTICA E MÉTODOS: Foram analisados, retrospectivamente, 80 transplantes cardíacos realizados no Instituto Dante Pazzanese de Cardiologia (IDPC) no período de novembro de 1991 a agosto de 2000. Houve predomínio do sexo masculino em 70 por cento dos casos e a idade variou de 7 a 69 anos, com média de 44,8 anos. Doze (15 por cento) pacientes se encontravam em prioridade, em uso de drogas inotrópicas endovenosas no momento do transplante. As etiologias determinantes da insuficiência cardíaca congestiva grave foram: miocardiopatia dilatada idiopática em 37,5 por cento, miocardiopatia isquêmica em 33,75 por cento, miocardiopatia chagásica em 17,5 por cento e outras causas em 11,25 por cento. Foram realizados 78 transplantes ortotópicos e 2 heterotópicos. A técnica empregada foi bicaval/bipulmonar em 63,75 por cento, atrial em 27,5 por cento, bicaval/unipulmonar em 6,25 por cento e heterotópico em 2,5 por cento. A mortalidade hospitalar (30 dias) foi de 18,75 por cento. RESULTADOS: A sobrevida para o transplante ortotópico em um ano foi de 72,7 por cento, em cinco anos 61,5 por cento e em sete anos 56,4 por cento. A sobrevida após o transplante foi correlacionada com as variáveis idade, causa de óbito e sexo do doador, e pelo transplante ter sido ou näo a primeira cirurgia cardíaca do paciente