Familial evaluation reveals a distinct genetic cause in a large Spanish family with neurofibromatosis 1 and hypertrophic cardiomyopathy.

Neurofibromatosis 1 (NF1) is an autosomal dominant disorder characterized by café-au-lait spots, intertriginous freckling, and multiple neurofibromas. Classically, it has been described that hypertrophic cardiomyopathy (HCM) may be a cardiovascular manifestation of neurofibromatosis 1, although the relationship between these two entities has not been fully established. We report a large Spanish family carrying a pathogenic truncating variant in NF1 (p.Arg2258Ter) causing neurofibromatosis 1, and a pathogenic missense variant in MYH7 (p. Arg453Cys), causing hypertrophic cardiomyopathy independently. A complete penetrance was observed in both genetic diseases, reinforcing the notion of deleterious effects of both rare variants. According to our report, hypertrophic cardiomyopathy in patients with NF1 should not be considered as part of the clinical spectrum in all cases. A careful and comprehensive assessment, including family evaluation and genetic testing for HCM should be considered as part of the diagnostic work-up in individuals presenting with both phenotypes.

[Evaluation of the left ventricle with three-dimensional echocardiography: comparison with cardiac magnetic resonance]. / Evaluación del ventrículo izquierdo por ecocardiografia tridimensional. Comparación con la Cardio-RM.

OBJECTIVE: Three-dimensional echocardiography (3DE) is becoming increasingly common in clinical environments. However, the quality of the images depends on the acoustic window, and it can be difficult to identify the endocardial borders. The objective of this study was to evaluate the performance of 3DE in determining the volumes and left ventricular ejection fraction in unselected patients against the gold standard, cardiac magnetic resonance (CMR). MATERIAL AND METHODS: In 47 unselected patients who underwent CMR, we performed 3DE using a real-time acquisition technique and semiautomatic border detection. RESULTS: We excluded 4 patients (8.5%) because they had an extremely deficient acoustic window. In the remaining 43 patients, including those with a suboptimal acoustic window, we obtained the following correlations between 3DE and CMR: end-diastolic volume, 0.71; end-systolic volume, 0.77; ejection fraction, 0.74. Although the end-diastolic volume was systematically underestimated, no significant differences were observed in the ejection fraction. When the 11 patients with suboptimal acoustic windows were excluded, we observed a systematic underestimation of the end-diastolic and end-systolic volumes, which paradoxically gave rise to improved correlation coefficients (0.79, 0.92, and 0.84, respectively) and a more accurate ejection fraction. CONCLUSIONS: Compared to CMR, 3DE systematically underestimates the ventricular volumes but enables adequate determination of the left ventricular ejection fraction regardless of the quality of the acoustic window.

Acute pancreatitis in childhood.

AIM: to evaluate etiological agents involved in acute pancreatitis in children, as well as clinical, laboratory and radiological findings and the illness clinical course. PATIENTS AND METHODS: we reviewed the cases of acute pancreatitis diagnosed over the last 15 years. The criteria used for cases to be included were acute abdominal pain, elevated serum amylase levels and/or ultrasound abnormalities in the pancreatic area in conscious patients, and the last two criteria in unconscious patients. RESULTS: thirty-one children were included (average age 7.9 years, range 2-15; 55% males). Infection and gallstones were the most common causes (19 and 16 %, respectively). In all, 9.7% of cases were drug-related (valproic acid, L-asparaginase, azathioprine combined with high doses of methylprednisolone); 6.5% were traumatic in origin and another 6.5% was due to systemic diseases. In 35.5 % no cause was found (idiopathic). The most frequent symptoms were abdominal pain (90%) and emesis (38%). Amylase serum levels were elevated in all patients. Abdominal ultrasound scans were abnormal in 64%, with an increase in the pancreatic area in 48% and hypoechogenicity in 51%. Seven cases required surgical treatment (22%). Seven children had acute pancreatitis, and three of them died as a result of shock unrelated to pancreatitis. Relapse of disease occurred in 19% of patients. CONCLUSIONS: acute pancreatitis should always be considered in children with abdominal pain. There are a wide variety of etiological factors and in a high percentage of patients no underlying cause is found. Prognosis is variable owing to the heterogeneity of the clinical course of this illness in children.