Predicting the size of pulmonary arteriovenous malformations on chest computed tomography: a role for transthoracic contrast echocardiography.

This study aimed to investigate whether pulmonary shunt grade on transthoracic contrast echocardiography (TTCE) predicts the size of pulmonary arteriovenous malformations (PAVMs) on chest computed tomography (CT) and subsequent feasibility for transcatheter embolotherapy. We prospectively included 772 persons with possible or definite hereditary haemorrhagic telangiectasia, who underwent both TTCE and chest CT for screening of PAVMs. A quantitative three-point grading scale was used to classify the pulmonary shunt size on TTCE (grade 1-3). Transcatheter embolotherapy was performed for PAVMs deemed large enough for endovascular closure on chest CT. TTCE documented pulmonary shunting in 510 (66.1%) patients. The positive predictive value of a pulmonary shunt grade 1, 2 and 3 on TTCE for presence of PAVMs on chest CT was 13.4%, 45.3% and 92.5%, respectively (p<0.001). None of the 201 persons with a pulmonary shunt grade 1 on TTCE had PAVMs on chest CT large enough for transcatheter embolotherapy, while 38 (25.3%) and 123 (77.4%) individuals with a pulmonary shunt grade 2 and 3 on TTCE, respectively, underwent endovascular closure of PAVMs. Pulmonary shunt grade on TTCE predicts the size of PAVMs on chest CT and their feasibility for subsequent transcatheter embolotherapy. Chest CT can be safely withheld from all persons with a pulmonary shunt grade 1 on TTCE, as any PAVM found in these subjects will be too small for transcatheter embolotherapy.

Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia.

BACKGROUND: Hereditary hemorrhagic telangiectasia is a genetic disease characterized by teleangiectasias involving virtually every organ. There are limited data in the literature regarding the natural history of liver vascular malformations in hemorrhagic telangiectasia and their associated morbidity and mortality. AIM: This prospective cohort study sought to assess the outcome of liver involvement in hereditary hemorrhagic telangiectasia patients. METHODS: We analyzed 16 years of surveillance data from a tertiary hereditary hemorrhagic telangiectasia referral center in Italy. We considered for inclusion in this study 502 consecutive Italian patients at risk of hereditary hemorrhagic telangiectasia who presented at the hereditary hemorrhagic telangiectasia referral center and underwent a multidisciplinary screening protocol for the diagnosis of hereditary hemorrhagic telangiectasia. Of the 502 individuals assessed in the center, 154 had hepatic vascular malformations and were the subject of the study; 198 patients with hereditary hemorrhagic telangiectasia and without hepatic vascular malformations were the controls. Additionally, we report the response to treatment of patients with complicated hepatic vascular malformations. RESULTS: The 154 patients were included and followed for a median period of 44 months (range 12-181); of these, eight (5.2%) died from VM-related complications and 39 (25.3%) experienced complications. The average incidence rates of death and complications were 1.1 and 3.6 per 100 person-years, respectively. The median overall survival and event-free survival after diagnosis were 175 and 90 months, respectively. The rate of complete response to therapy was 63%. CONCLUSIONS: This study shows that substantial morbidity and mortality are associated with liver vascular malformations in hereditary hemorrhagic telangiectasia patients.

Incidence of herpes zoster and postherpetic neuralgia in Italian adults aged ≥50 years: A prospective study.

Herpes zoster (HZ) mainly affects older adults and immunocompromised individuals and is usually characterized by a unilateral painful skin rash. Its most common complication, postherpetic neuralgia (PHN), may cause chronic debilitating pain lasting for months or years. This study (ClinicalTrials.gov Identifier: NCT01772160) aimed to estimate the HZ incidence and the proportion of HZ patients with PHN in the Italian population aged 50 years or older. From 2013 to 2016, HZ-patients were recruited when presenting with acute HZ at 75 reporting general practitioners in Italy, covering 43,875 persons aged ≥50 years. PHN was defined as 'worst pain' rated ≥ 3 on the Zoster Brief Pain Inventory persisting or appearing over 90 days after rash onset. The overall HZ incidence rate per 1000 person-years (PY) was estimated as 6.46 (95% confidence interval [CI]: 5.99-6.95), increasing with age to 9.12/1000 PY (95% CI: 7.50-10.99) in 75-79 year-olds. Among 391 HZ-patients who completed the study, the overall proportion with PHN was 10.23% (95% CI: 7.41-13.67) and the highest proportion was 15.56% (95% CI: 6.49-29.46) for the 75-79 year-olds. Among the 128 patients (32.7%) who reported at least one pre-existing medical condition, 35.9% reported diabetes mellitus and 32.0% reported emotional problems, stress or depression. The study confirms previous findings that HZ and PHN cause an important clinical burden in older Italian adults. It also confirmed the age-related increasing risk of HZ and PHN.

High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia.

A vascular pathogenesis of hepatic focal nodular hyperplasia (FNH) has been suggested; this study was aimed to evaluate in families with hereditary hemorrhagic telangiectasia (HHT) the prevalence of FNH, relating it to presence and stage of hepatic vascular malformations (VMs). Fifty-two HHT families underwent a screening program including abdominal Doppler sonography (US) searching for hepatic VMs; we classified them as minimal, moderate and severe, depending on the number and degree of abnormalities found by Doppler US. Presence of focal liver lesions was recorded. Diagnosis of FNH was made if at least two examinations, whether color Doppler US, liver scintigraphy, dynamic computed tomography (CT) or magnetic resonance (MR), showed suggestive findings. FNH was found in five out of 274 subjects (1.8%). All five were affected by HHT. Thus, percentage related to the group of affected patients increased to 2.9; 4/5 presented severe liver VMs. Female-to-male ratio was 4:1. FNH was single in three cases; tumor size ranged between 20 and 90 mm. During follow-up, no lesion showed a reduction in size, three showed an increase. Prevalence of FNH in patients with HHT is far greater than that reported in the general population; Doppler US role in its diagnosis and follow-up is highlighted.

Grade of pulmonary right-to-left shunt on contrast echocardiography and cerebral complications: a striking association.

BACKGROUND: A pulmonary right-to-left shunt (RLS) carries the risk of cerebral paradoxical embolization and severe neurologic complications. Recognizing patients at risk is important to facilitate appropriate management strategies, but a direct relation between pulmonary shunt size and risk of complications remains controversial. This study evaluated the potential relation between pulmonary shunt grade on transthoracic contrast echocardiography (TTCE) and prevalence of cerebral manifestations in patients screened for hereditary hemorrhagic telangiectasia (HHT). METHODS: We conducted a two-center, cross-sectional study of all consecutive patients screened for HHT between 2004 and 2011. Pulmonary shunt grading on TTCE (grade 0, no microbubbles; grade 1, < 30 microbubbles; grade 2, 30-100 microbubbles; grade 3, > 100 microbubbles) was performed according to contrast opacification of the left ventricle. Cerebral complications were defined as ischemic stroke, transient ischemic attack, or brain abscess diagnosed by a neurologist and confirmed by appropriate imaging techniques. RESULTS: A pulmonary RLS was present in 530 out of 1,038 patients (51.1%; mean age, 44.3 ± 15.6 years; 58.6% women). The presence of a cerebral manifestation (n = 51) differed significantly among pulmonary shunt grades on TTCE: 1.4%, 0.4%, 6.5%, and 20.9% for grades 0, 1, 2 and 3, respectively. A pulmonary shunt grade 1 was not associated with an increased prevalence of cerebral manifestations (OR, 0.44; 95% CI, 0.05-4.13; P = .47), whereas pulmonary shunt grade 2 (OR, 4.78; 95% CI, 1.14-20.0; P = .03) and grade 3 (OR, 10.4; 95% CI, 2.4-45.3; P = .002) were both independent predictors for the prevalence of a cerebral ischemic event or brain abscess. CONCLUSIONS: The pulmonary RLS grade on TTCE is strongly associated with the prevalence of cerebral complications in patients screened for HHT.

[Provocative tests and electrophysiological study in athletes]. / Test provocativi e studio elettrofisiologico nello sportivo.

Provocative tests can be divided into three main categories: first-level or screening tests, consisting basically of step test, which all athletes undergo during pre-participation screening; second-level tests, which include exercise test (simple or cardiopulmonary), performed on the basis of specific clinical indications or for the assessment of functional capacity; and third-level tests, consisting of complex methods such as myocardial scintigraphy and stress echo (or exercise echo), which are performed in subjects adequately selected according to clinical characteristics or to the results of first- and second-level tests. The electrophysiological endocavitary study has specific indications in sustained or frequent ventricular arrhythmias, while it is not useful in diagnostic evaluation of athletes with supraventricular arrhythmias, where it has been replaced in most cases by transesophageal electrophysiological study.

Implantation of a permanent pacemaker in a pregnant woman under the guidance of electrophysiologic signals and transthoracic echocardiography.

We describe the case of a 30-year-old pregnant woman who underwent pacemaker implantation for recurrent syncope caused by sinus arrest. In order to minimize radiation exposure, which may potentially have teratogenic effects, we decided to perform pacemaker implantation by means of a hybrid technique involving the evaluation of electrophysiologic signals and transthoracic echocardiographic imaging to guide lead positioning within the right ventricle. After the procedure, the patient was always asymptomatic and had no recurrences of syncope. Six months later, she experienced uncomplicated natural labor, and the newborn was absolutely healthy. On a 10-month follow-up examination, the lead position was still optimal, and ventricular sensing and pacing thresholds were good. Our case demonstrates that pacemaker implantation under the guidance of electrophysiologic signals and transthoracic echocardiographic imaging, with only a short view by pulsed fluoroscopy in order to verify the correct lead position, is an effective and well-tolerated procedure in pregnant women.

[Current limitations and new perspectives in the diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia]. / L'iter diagnostico della cardiomiopatia aritmogena del ventricolo destro: limiti attuali e nuove prospettive.

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a genetic cardiomyopathy characterized by ventricular arrhythmias and structural abnormalities of the right ventricle. In ARVC/D there is a progressive replacement of right ventricular myocardium with fatty and fibrous tissue and ventricular arrhythmias of right ventricular origin. The precise prevalence of ARVC/D has been estimated to vary between 1 in 1000 to 1 in 5000 of the general population. ARVC accounts for approximately 3-10% of sudden deaths in young people under the age of 65 years. The purpose of this paper is to review the current knowledge of ARVC/D and its management. Particular attention will be focused on some of the recent advances in the understanding of the genetic basis of ARVC/D. Increasing evidence suggests that ARVC/D is a disease of desmosomal dysfunction. Attention will also be focused on the new and somewhat controversial concept that ARVC/D may present primarily as a left ventricular disease. In our experience ARVC/D typically presents as a right ventricular disease, unless a patient has advanced disease. Diagnosis of ARVC/D is challenging and requires a comprehensive evaluation with both non-invasive and invasive testing.

Usefulness and limitations of the surface electrocardiogram in the classification of right and left atrial flutter.

Atrial flutter is a common arrhythmia that may cause significant symptoms, including palpitations, dyspnoea, chest pain and even syncope. Frequently, it is possible to diagnose atrial flutter with a 12-lead surface electrocardiogram (ECG), looking for distinctive waves in leads II, III, aVF, aVL, V1 and V2. Puech and Waldo developed the first classification of atrial flutter in the 1970s. These authors divided the dysrhythmia into types I and II. Therefore, in 2001, the European Society of Cardiology and the North American Society of Pacing and Electrophysiology developed a new classification of atrial flutter based not only on the ECG, but also on the electrophysiological mechanism. More recently, Scheinman and colleagues have provided an updated classification and nomenclature. Terms such as common, uncommon, typical, reverse typical or atypical flutter are abandoned, because they may generate confusion. The authors worked out a new terminology, which differentiates atrial flutter only on the basis of electrophysiological mechanism.