Clinical, familial, and neuroimaging features of CADASIL-like patients.

OBJECTIVES: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease caused by NOTCH3 mutations. There are no clinical and neuroimaging findings pathognomonic of the disease. The aim of this paper was to provide a description of a group of NOTCH3-negative patients with a phenotype closely resembling that of CADASIL. MATERIALS AND METHODS: We performed NOTCH3 analysis (exons 2-23) in 117 probands because of a clinician's suspicion of CADASIL. The CADASIL scale, a recently developed tool that allows to better select patients for NOTCH3 analysis, was retrospectively applied to NOTCH3-negative patients; the patient subgroup that scored higher than the screening cutoff for CADASIL was defined as CADASIL-like. RESULTS: Thirty-four CADASIL-like patients (mean age at onset 57.8 years [52.1-63.4], 50% males) were identified. Compared with 25 patients with CADASIL for clinical, familial, and neuroimaging features, only the following variables were significantly (α level <0.05) different in frequency between patients with CADASIL and CADASIL-like patients: a positive family history for stroke at age ≤ 60 years, more frequent in patients with CADASIL, and hypertension, more frequent in CADASIL-like patients. CONCLUSIONS: Our experience highlights the growing number of patients presenting with a high suspicion of a cerebral small vessel disease with an autosomal dominant pattern of inheritance and a phenotype closely similar to that of CADASIL but without NOTCH3 mutations. This group remains to be characterized from the genetic point of view. The role of other genes or NOTCH3 alterations on exons other than 2-23 or introns has to be further assessed.

Electrocardiographic abnormalities in acute pancreatitis.

It has been reported that electrocardiographic abnormalities may be associated with acute pancreatitis. However, the data are lacking or sketchy. The aim of this study was to assess the frequency and type of electrocardiographic abnormalities present in patients with acute pancreatitis. Fifty-six consecutive patients with acute pancreatitis and without previous history of heart disease were studied. Eleven patients had arterial hypertension. Forty-one patients had mild pancreatitis and 15 had the severe form of the disease. On admission, all patients underwent a standard 12-leads electrocardiogram and a serum electrolyte determination. Nineteen healthy subjects were also studied as controls. Twenty-seven patients (48.2%) (10 with severe pancreatitis and 17 with mild pancreatitis) had a normal electrocardiogram. In the remaining 29 patients (51.8%), one patient with severe pancreatitis had atrial extrasystoles and eight had bradycardia (less than 60 beats/minute) (two with severe pancreatitis and six with mild pancreatitis); 14 patients had changes of the T-wave and/or the ST-segment (two with severe pancreatitis and 12 with mild pancreatitis); seven patients showed disturbances of the intraventricular conduction (one with severe pancreatitis and six with mild pancreatitis): four had left anterior hemiblock, two had complete left bundle branch block and one had left anterior hemiblock and incomplete right bundle branch block; one patient with mild pancreatitis had atrioventricular block (first degree). No differences in heart rate, RR interval, PR interval and QT interval were found when patients with acute pancreatitis were compared with healthy subjects, nor when patients with severe pancreatitis were compared with those having the mild form of the disease. Seventeen of the 29 patients with electrocardiographic abnormalities (52.6%) also had serum electrolyte alterations. More than 50% of the patients with acute pancreatitis had electrocardiographic abnormalities and electrolyte alterations were also present in about one-half of these.

Pericardial effusion and left ventricular function in acute pancreatitis.

OBJECTIVES: To establish the prevalence of pericardial effusion and to evaluate left ventricular function in patients with acute pancreatitis. METHODS: Twenty-one consecutive acute pancreatitis patients were studied. In 15 patients, the pancreatitis was of biliary origin and was attributable to other causes in the remaining six; eight patients had severe pancreatitis and 13 a mild disease. Using M-mode and B-mode echocardiography, pericardial effusion and left ventricular function were evaluated in all of the patients within 48 h of pain onset. All patients underwent an electrocardiogram and a standard chest x-ray. In 12 patients, the same parameters were evaluated 1 month after clinical recovery. Twenty healthy subjects, comparable for sex and age, have been studied as controls. RESULTS: Left ventricular function was similar in patients with acute pancreatitis and in healthy subjects; it was also similar both in patients with biliary and nonbiliary pancreatitis as well as in patients with severe pancreatitis and in those with mild disease. In the 12 patients in whom echocardiography was performed on hospital admission and one month after clinical recovery, no changes of left ventricular function were observed. Two patients with a mild form and one with a severe disease had pericardial effusion. One patient had negative T waves at electrocardiogram and an apical asynergy at echocardiography; these alterations disappeared after recovery. Chest x-ray revealed pleural effusion in seven patients with severe pancreatitis, whereas no alterations of cardiac silhouette were found. Acute abdominal fluid collections were also detected in seven of eight patients with severe pancreatitis, by contrast-enhanced computed tomography. CONCLUSIONS: The presence of pericardial effusion or left ventricular asynergy may be observed occasionally at echocardiography in acute pancreatitis patients; these findings, in contrast to the presence of pleural and abdominal effusions, seem to be unrelated to the severity of the disease.