Heart transplantation in patients with amyloidosis: single-center experience.

INTRODUCTION: Amyloidosis is a systemic disease. Heart transplantation in this subset of patients is contraindicated by the majority of authors. In our center, patients with heart failure due to amyloidosis have been evaluated for cardiac transplantation since 1991. The aim of this study was to analyze the outcome of these patients waiting for transplant and the effectiveness of this therapy. MATERIALS AND METHODS: Since 1991, eight patients affected by amyloidosis have been evaluated and enrolled on the waiting list for transplant: five affected by AL lambda type; two by APO A1; and one by TTR. Four were transplanted, three died waiting for a donor (two from cardiac failure, one from sudden death), and one has been recently transplanted after 17 months on waiting list. RESULTS: Since 1985, 713 patients underwent heart transplantation in our center, five of whom were affected by amyloidosis (0.7%). Two are still alive (60 and 41 months) without evidence of cardiac amyloidotic infiltration. One patient recently underwent a combined heart-liver transplantation. Two patients died after the intervention: one sudden death after 23 months with amyloidotic infiltration of transplanted heart, and one multiple organ failure (MOF) due to progression of the systemic disease. CONCLUSIONS: Despite the small size of the group preventing us from drawing definitive conclusion, heart transplantation may prevent therapy to arrest organ damage in patients with isolated cardiac involvement. Cardiac events are the main cause of death. Patients must be followed-up for evolution of systemic disease. The midterm survival is encouraging.

Solitary cardiac metastasis from a clear cell carcinoma of the kidney. A case report and review of the literature.

A case of solitary septal metastasis from a clear cell carcinoma of the kidney is reported in a 55-year-old man who 5 years before had undergone right nephrectomy and adrenalectomy. Since then, he had been successfully treated by means of chemotherapy, radiation therapy, or operated on, at almost yearly intervals, for secondary pancreatic, pulmonary and cerebral single metastases. Diagnosis was obtained by routine computed tomography. The septal mass was surgically removed and the patient was discharged on the 4th postoperative day.

Minimally invasive closure of patent foramen ovale through port-access surgery.

We present here our experience of patent foramen ovale closure through a mini-invasive surgical technique. With the new surgical platform termed Heartport System, it is possible to install extra-corporeal circulation and to obtain cardioplegic arrest of the heart with endovascular techniques. This allows the operation of closure to be entirely performed through a micro-thoracotomy (Port-access surgery) in the right 4th intercostal space. Sixty-one patients underwent this surgical correction and seventeen of them (26%) had a diagnosis of patent foramen ovale, 12 with an history of cerebrovascular accidents. They are all alive and well after a mean follow-up of 16 months, with no recurrence of the inter-atrial communication and free from new neurological events. The post-operative course was uneventful with patients discharged on postoperative day 4. This technique shows a 100% efficacy, minimise surgical trauma, allows a quick recovery and offers excellent cosmetic results with no scarring. We believe that this procedure must be regarded as the "golden standard" for the closure of atrial septal defects

Ocular albinism: evidence for a defect in an intracellular signal transduction system.

G protein-coupled receptors (GPCRs) participate in the most common signal transduction system at the plasma membrane. The wide distribution of heterotrimeric G proteins in the internal membranes suggests that a similar signalling mechanism might also be used at intracellular locations. We provide here structural evidence that the protein product of the ocular albinism type 1 gene (OA1), a pigment cell-specific integral membrane glycoprotein, represents a novel member of the GPCR superfamily and demonstrate that it binds heterotrimeric G proteins. Moreover, we show that OA1 is not found at the plasma membrane, being instead targeted to specialized intracellular organelles, the melanosomes. Our data suggest that OA1 represents the first example of an exclusively intracellular GPCR and support the hypothesis that GPCR-mediated signal transduction systems also operate at the internal membranes in mammalian cells.