Liver Transplantation for Familial Amyloid Polyneuropathy (Val30Met): Long-Term Follow-up Prospective Study in a Nontransplant Center.

BACKGROUND: Familial amyloidosis polyneuropathy (FAP) is a rare, progressive, and life-threatening disease inherited in the autosomal dominant pattern. Liver transplantation is the only proven disease-modifying treatment to date. AIM: To study the long-term outcomes of patients transplanted for FAP under a multidisciplinary team care. METHODS: We included adult patients who were transplanted for FAP indication and were followed up in a relevant clinic or admitted in our department. RESULTS: Twelve patients (6 male) with a mean age of 43 years and mean follow-up post-transplant of 100 months were included. Three patients died in this period, 1 due to a disease-related cause. All patients had peripheral neuropathy (25% severe). Eighty-three percent had autonomic nervous system dysfunction; all men, except one, erectile dysfunction; and half of the patients several genitourinary manifestations. Gastrointestinal involvement was present in 75% of the patients. The severity of several complications related to FAP was found to be associated with waiting on the transplant list for more than 12 months. CONCLUSIONS: Patients transplanted for FAP have a long survival. Prolonged stay on the transplant waiting list is associated with frequency and severity of disease complications. These patients are best managed in the context of multidisciplinary team care.

The growing role of echocardiography in interventional cardiology: The present and the future.

As structural heart disease interventions continue to evolve to a sophisticated level, accurate and reliable imaging is required for pre-procedural selection of cases, intra-procedural guidance, post-procedural evaluation, and long-term follow-up of patients. Traditionally, cardiovascular procedures in the catheterization laboratory are guided by fluoroscopy and angiography. Advances in echocardiography can overcome most limitations of conventional imaging modalities and provide successful completion of each step of any catheter-based treatment. Echocardiography's unique characteristics rendered it the ideal technique for percutaneous catheter-based procedures. The purpose of this review is to demonstrate the use of the most common and up-to-date echocardiographic techniques in recent non-coronary percutaneous interventional procedures, underlining its inevitable and growing role, as well as illustrating areas of weakness and limitations, and to provide future perspectives.

Myocardin gene regulatory variants as surrogate markers of cardiac hypertrophy - study in a genetically homogeneous population.

Myocardin is thought to contribute to heart hypertrophy as assessed in animal models. The aim of this study was to identify polymorphisms on the myocardin gene and investigate possible relationships with left ventricular structure in human hypertrophic cardiomyopathy (HCM). Eighty-four native Cretan individuals (36 patients with HCM and 48 healthy controls) were examined by direct sequencing and subsequent restriction fragment length polymorphism analysis and six polymorphisms were identified in the promoter region at positions -435T>C (rs758187), -629A>T (rs8071072), -1030C>G (rs1233851), -1069A>G, -1166A>G and -1406G>A (rs976906). Allele and haplotype frequencies were not significantly different between patients and controls. However, patients carrying the [-435C;-629T] allelic variant had decreased left ventricular wall thickness (LVWT, p = 0.020) and left ventricular mass (p = 0.006) as compared with the wild-type genotype. Carrier status of this myocardin promoter allelic variant was also associated with significant lower myocardin mRNA levels in peripheral blood (p = 0.039). Thus, a myocardin promoter allelic variant existing in the normal Cretan population was associated with decreased left ventricular mass in HCM patients and decreased myocardin mRNA levels in peripheral blood. Our results may be limited by the limited sample size, but are strengthened by the genetic homogeneity of the Cretan population. Our data suggest that functional natural myocardin promoter variation might be a genetic factor contributing to inter-individual differences in the development of cardiac hypertrophy.

Impedance cardiography derived cardiac output in hemodialysis patients: a study of reproducibility and comparison with echocardiography.

BACKGROUND: Hemodialysis patients experience a variety of hemodynamic abnormalities that contribute to cardiovascular disease mortality which is the leading cause of death in these patients. Impedance cardiography has been utilized in order to monitor cardiac hemodynamics with lower cost and inconvenience, but it has not been appropriately validated in the hemodialysis population. AIM: We repeatedly used impedance cardiography to assess short- (48 hours) and long-term (15 days) reproducibility of cardiac output measurements and we compared baseline impedance cardiography measurements with echocardiographic measurements. PATIENTS AND METHODS: We studied 109 stable hemodialysis patients, aged 59.70 +/- 11.97 years being on hemodialysis for 67.59 +/- 40.15 months, on a non-dialysis day. Cardiac output was obtained with the BioZ impedance cardiography system (Cardiodynamics, San Diego, Ca, USA). Baseline echocardiography was performed using a Hewlett-Packard Sonos 2500 (Andover, Mass., USA). RESULTS: The values of impedance cardiography derived cardiac output were 5.28 +/- 0.79, 5.27 +/- 0.75 and 5.25 +/- 0.74 l/min at baseline (107 patients), 48 hours (107 patients) and 15 days (98 patients) respectively, showing high reproducibility. Bland and Altman analysis estimated that bias at 48 hours and at 15 days were: -0.013 (95% confidence intervals = -0.045 to 0.019) and 0.028, (95% confidence intervals = -0.044 to 0.101), respectively. In addition baseline impedance cardiography derived cardiac output was significantly correlated with the echocardiographic derived cardiac output (r = 0.9, p < 0.0001). CONCLUSION: Impedance cardiography is a simple non invasive technique for cardiac output estimation in hemodialysis patients which has high reproducibility when performed under controlled conditions, and is closely correlated with echocardiographic measurements of cardiac output.

Alteration of proximal aorta biophysical properties in patients with end stage renal disease.

OBJECTIVE: To present a novel, non-invasive echocardiographic application to assess the structural and functional properties of the complex composition of the proximal aorta in patients with end stage renal disease (ESRD). METHODS: 71 haemodialysis patients (mean (SD) age 61.3 (9.3) years, dialysis duration 79.2 (51.6) months) and 62 age matched controls were studied. From the suprasternal view, the distance between ascending and descending aorta was measured with two dimensional ultrasound. The aortic flow wave transit time was measured with pulsed wave Doppler. M mode echocardiography, with simultaneous blood pressure estimates, was used to assess the diameters of the aortic annulus and of the ascending aorta. Pulse pressure, pulse wave velocity (PWV), pressure strain elastic modulus, characteristic impedance, and beta index were calculated. RESULTS: Patients had increased pulse pressure (68.0 (7.2) v 51.4 (5.0) mm Hg, p < 0.001), PWV (6.1 (1.1) v 3.9 (0.6) m/s, p < 0.001), characteristic impedance (174 (58) v 111 (31) m/s.cm2, p < 0.001), pressure strain elastic modulus (872 (254) v 541 (140) mm Hg, p < 0.001), and beta index (8.9 (3.4) v 5.5 (1.4), p < 0.001) compared with controls. In patients PWV was correlated with age and time on haemodialysis (r = 0.44, p < 0.001, and r = 0.51, p < 0.001, respectively). CONCLUSION: A novel application of duplex ultrasound of the proximal aorta showed that patients with ESRD have impaired proximal aortic function compared with controls. The data indicate that these non-invasive measurements can be used to describe status and change in aortic biophysical properties and may be used as a marker for cardiovascular disease risk.