R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy.

Mutations in the p63 gene have been identified in five types of syndromic ectodermal dysplasias (EDs) with overlapping phenotypes: Ectrodactyly-Ectodermal dysplasia-Clefting (EEC syndrome, MIM 604292), Ankyloblepharon-Ectodermal dysplasia-Clefting (AEC syndrome, MIM 106260) [3], Acro-Dermato-Ungueal-Lacrimal-Tooth (ADULT syndrome, MIM 103285), Rapp-Hodgkin (RHS syndrome, MIM 129400) and Limb-Mammary (LMS syndrome, MIM 603543) [2]. In all those conditions congenital heart defects have been only occasionally found and to date, arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC) has never been observed in patients affected by p63-related ectodermal dysplasia [9]. Here we describe for the first time this association.

[Gynecological and obstetrical management of rheumatic diseases in reproductive age].

The gynecologist's role in the management of rheumatic patients is complex: it includes the prevention of damage caused by drugs, the counseling about contraception to avoid pregnancy while taking teratogen drugs, the scheduling of pregnancy during the quiescent phase of the specific disease, the replacement of teratogen drugs and a competent management of the pregnancy. The task is carried out as part of a multidisciplinary team with a focus on the differential diagnosis between specific complications of pregnancy and the complications of the rheumatic disease. This is the right way to allow a conscious reproduction, with reduced risks and acceptable maternal-fetal outcomes, to this kind of patients considered at high risk.

Epidural Anesthesia for Cesarean Section in a Pregnant Woman with Marfan Syndrome and Dural Ectasia.

Marfan syndrome (MFS) is a genetic disorder of connective tissue, characterized by variable clinical features and multisystem complications. The anesthetic management during delivery is debated. Regional anesthesia has been used with success during cesarean delivery, but in some MFS patients there is a probability of erratic and inadequate spread of intrathecal local anesthetics as a result of dural ectasia. In these cases, epidural anesthesia may be a particularly useful technique during cesarean delivery because it allows an adequate spread and action of local anesthetic with a controlled onset of anesthesia, analgesia, and sympathetic block and a low risk of perioperative complications. We report the perioperative management of a patient with MFS and dural ectasia who successfully underwent cesarean section using epidural technique anesthesia. The previous pregnancy of this woman ended with cesarean section with a failed spinal anesthesia that was converted to general anesthesia due to unknown dural ectasia at that time.

[Pregnancy after bariatric surgery].

Pregnancy after bariatric surgery has some peculiarities related to obesity, type of surgery, amount of weight loss, time elapsed from the surgery and adherence to medical prescriptions. Pregnant woman is at risk of nutritional deficiencies and it is unclear whether there is an increased incidence of intestinal complications during pregnancy after bariatric surgery and whether this kind of complications are more frequent during cesarean section. The fetus is at high risk of prematurity and fetal growth restriction, but they seem not at increased risk of birth defects (DTN) except in individual cases of folic acid deficiency (DTN) or vitamin K defect (similar abnormalities in patients receiving oral anticoagulants). In addition, the incidence of gestational diabetes and hypertension results to be decreased. Other postnatal outcomes from possible epigenetic modifications need to be evaluated in the long-term postnatal follow-up.

Intracardiac echocardiography using the AcuNav ultrasound catheter during percutaneous closure of multiple atrial septal defects.

Transesophageal echocardiography is routinely used in catheterization laboratories to guide the percutaneous closure of ostium secundum atrial septal defects. The patient is under general anesthesia, and the interatrial septum anatomy is usually well defined. Multiple atrial septal defects are, in some cases, a challenge for both the interventional echocardiographer and the interventional cardiologist, when trying to evaluate the anatomy of the defects, the strategy of closure and the correct choice of the device. We describe the usefulness of a new phased-array ultrasound-tipped catheter for intracardiac echocardiography in a case of percutaneous closure of multiple ostium secundum atrial septal defects.

Transesophageal echocardiography and transcranial color Doppler: independent or complementary diagnostic tests for cardiologists in the detection of patent foramen ovale?

BACKGROUND AND PURPOSE: Contrast-enhanced transesophageal echocardiography (c-TEE) is considered the gold standard for the diagnosis of patent foramen ovale. The purpose of this study was to compare the practical use of contrast-enhanced transcranial color Doppler (c-TCD) to define its role in the diagnostic pathway of patent foramen ovale. METHODS: Two hundred and eighty-six consecutive patients with a presumed paradoxical cerebrovascular event were investigated by both c-TEE and c-TCD for the detection of patent foramen ovale. Considering c-TEE as the gold standard for statistical comparison, the sensitivity, specificity, positive predictive value, negative predictive value and global diagnostic accuracy of c-TCD were assessed. RESULTS: Among the entire cohort of patients (286), 156 (54%) showed positive and 116 (41%) negative findings with both the examinations; 10 patients (3%) had a negative result with c-TCD and a positive one with c-TEE; four (1%) had a positive result with c-TCD and a negative one with c-TEE. Thus, for c-TCD, we defined a sensitivity of 94% (95% confidence limits 90-98) and a specificity of 97% (94-100). The positive predictive value for the detection of the shunt was 98% (95% confidence limit 96-100) and the negative predictive value was 92% (95% confidence limit 87-97). Global diagnostic accuracy was 95% (95% confidence limit 92-98). The two examinations showed a strong statistical correlation (r = 0.90; R = 0.81; P < 0.001). CONCLUSION: c-TDC results in an effective, safe and low cost examination, with excellent sensitivity and specificity as compared with c-TEE.

Percutaneous left atrial appendage transcatheter occlusion in patients with chronic nonvalvular atrial fibrillation: early institutional experience.

OBJECTIVE: The percutaneous left atrial appendage transcatheter occlusion system (PLAATO, ev3 Inc., Plymouth, Minnesota, USA) is a novel technique of interventional cardiology, which has recently been proposed for the nonpharmacological prophylaxis of thromboembolic events in patients with chronic nonvalvular atrial fibrillation ineligible for oral anticoagulation therapy with vitamin K antagonists. The aim of this study was to assess the safety, feasibility and mid-term efficacy of this procedure. METHODS: We conducted a preliminary institutional experience on a selected population of seven patients (two male, five female, mean age 64 +/- 7 years) with chronic nonvalvular atrial fibrillation at high risk for thromboembolic events with contraindications for oral anticoagulation therapy with vitamin K antagonists. RESULTS: All procedures were successfully performed without any complications at a mean follow-up of 7 +/- 4 months and no thromboembolic or adverse cardiac events occurred. CONCLUSIONS: Percutaneous left atrial appendage transcatheter occlusion is safe and feasible, without any complications at mid-term follow-up.