Risk of 22q11.2 deletion in fetuses with right aortic arch and without intracardiac anomalies.

OBJECTIVE: To assess the risk of 22q11.2 deletion in fetuses with a prenatal diagnosis of right aortic arch without intracardiac anomalies (RAA-no ICA). METHODS: This was a retrospective study of all fetuses with RAA-no ICA diagnosed prenatally at three referral centers, between 2004 and 2014. A detailed sonographic examination was performed in each case, including visualization of the thymus and of the head and neck vessels to identify the presence of an aberrant left subclavian artery (ALSA). Karyotyping and fluorescence in situ hybridization analysis for diagnosis of 22q11.2 deletion were always offered either prenatally or postnatally. Clinical and echocardiographic examinations were performed in livebirths and a postmortem examination in cases of termination of pregnancy. RESULTS: During the study period, 85 fetuses were diagnosed prenatally with RAA-no ICA. Genetic or clinical data were not available for three cases and these were excluded from analysis. 22q11.2 deletion was found in 7/82 cases (8.5% (95% CI, 3.8-17.3%)). The thymus was small or non-visualized in all seven cases and additional abnormal sonographic findings were present in four. CONCLUSION: 22q11.2 deletion is present in a clinically significant proportion of fetuses with a prenatal diagnosis of RAA-no ICA. In such cases, a detailed sonographic examination, with assessment of the thymus in particular, may be useful to further define the level of risk for 22q11.2 deletion. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Surgical treatment of secundum atrial septal defect in patients older than 50 years.

BACKGROUND: The aim of this study was to verify if surgery is beneficial for patients older than 50 years. METHODS: Sixty-five patients older than 50 years were operated for a secundum atrial septal defect between November 1974 and November 1998. Preoperative data were obtained from hospital records; postoperative data from written questionnaires or direct telephone interviews. A comparison of pre and postoperative data was possible in 53 patients. RESULTS: The operative mortality was 0%. One patient died of a thromboembolic complication 32 days after surgery. The mean follow-up was 9 +/- 6 years. After surgery, clinical improvement occurred in 22 patients (41.5%) with the majority of them (69.8%) being asymptomatic or only mildly symptomatic. The occurrence of atrial fibrillation/flutter did not decrease after surgery (39.6 vs 26.4%). A thromboembolic event occurred in 2 patients before surgery and in 2 patients postoperatively; all of them had supraventricular arrhythmias and were not taking anticoagulants. CONCLUSIONS: Surgical closure of atrial septal defects in patients older than 50 years is feasible. The mortality is low. In this age group, surgery has a beneficial effect on the clinical status of the patients but not on the occurrence of supraventricular arrhythmias that can affect morbidity and mortality in patients who are not treated with anticoagulants.

Diagnosis and management of fetal cardiac anomalies: 10 years of experience at a single institution.

OBJECTIVE: To assess the diagnostic accuracy of fetal echocardiography and the outcome of cardiac malformations diagnosed in utero. DESIGN: A retrospective study. METHODS: The archives of our ultrasound laboratory were searched for fetal cardiac abnormalities in the period 1991-2001. RESULTS: Diagnosis of a fetal cardiac anomaly was made in 339 pregnancies at a mean gestational age of 26.2 weeks. Pathology or a detailed postnatal follow-up was available in 260 cases, and the prenatal diagnosis was accurate in 236 cases (91%). Discrepancies included nine false positive diagnoses (six ventricular septal defects and three coarctation of the aorta) and 15 cases in which a cardiac anomaly different from the one suspected in utero was documented. Of the 142 fetuses with isolated cardiac malformations (no extracardiac anomalies, normal chromosomes) that were delivered in our center, 114 were alive (80.2%) at a mean follow-up of 38 months (range, 1-120 months). In this group of patients, conotruncal anomalies and univentricular lesions were the most frequent types of anomaly, and had a survival rate of 87% and 57%, respectively. Hypoplastic left heart was the most frequent isolated congenital heart defect in infants that were delivered (19 cases) and it was associated with a survival rate of 37%. CONCLUSION: In expert hands, fetal echocardiography is highly accurate. The long-term prognosis of cardiac lesions diagnosed in utero is similar to that reported in series of infants diagnosed after birth. The only exception is hypoplastic left heart in which the survival rate is much lower than expected from postnatal studies.

Turner's syndrome: cardiologic profile according to the different chromosomal patterns and long-term clinical follow-Up of 136 nonpreselected patients.

The preferential association between Turner's syndrome and congenital heart defects (CHD) have been well known since the first description by Morgagni. There are few studies about the different cardiologic problems stemming from different chromosomal patterns of X monosomies. We reviewed a large series of 136 patients with Turner syndrome without cardiologic preselection, 29 of whom had some kind of CHD (21.5%). Partial anomalous pulmonary venous drainage (PAPVD; 2.9%), aortic valve disease (stenosis and/or incompetence) (AoVD; 5. 1%), aortic coarctation (AoCo; 4.4%), and bicuspid aortic valve (BicAo; 14.7%) are much more frequent in Turner's syndrome than in the normal population, with the difference being statistically highly significant. In our cases, only the 45, X subjects showed severe CHD and multiple lesions, whereas the X-ring pattern was associated with an elevated prevalence of BicAo. Patients with X-deletion showed no signs of congenital heart malformations. Eleven patients, all with 45, X pattern, and significant CHD, underwent cardiac surgery at a mean age of 7.7 +/- 5.3 years (range 7 days-18 years) without complications. At follow-up of 3-18 years (8.6 +/- 5. 2), we were unable to observe any type of evolution of the remaining untreated cardiovascular anomalies.

Noonan syndrome and aortic coarctation.

Congenital heart defect (CHD) is present in half of the propositi with Noonan syndrome (NS). Aortic coarctation (AC) is rarely seen in NS, since only three male patients with NS and AC have been previously reported. On the other hand, AC is common in the Ull-rich-Turner syndrome, an aneuploidy disorder and not a mendelian syndrome. In order to evaluate if AC is truly rare in patients with NS, we reviewed our series of 184 propositi with NS and CHD. AC was diagnosed in 16 (8.7%) patients. There were 11 males and 5 females. All had normal chromosomes. Clinical characteristics of the patients are described. Familial occurrence was detected in one girl with NS and AC whose mother and sibs also had NS, but different form of CHDs. Thus, AC is more frequent in NS than previously reported.

[Glycogenosis type II with early onset: peculiar features in a case report]. / Glicogenosi tipo II ad esordio precoce: aspetti peculiari di un caso clinico.

A case report of glycogenosis II with early infantile onset (type a) is presented and discussed. Some unusual features were observed. Pathological signs, involving the urinary tract, developed during the first days of life. Early instrumental evidence of myocardial disease and early onset of accompanying clinical signs were also seen. A further argument is proposed about guidelines for differential diagnosis of disease which can cause hypertrophic cardiomyopathy in infantile age.

Heart disease in Turner's syndrome.

Fifty-five consecutive patients with Turner's syndrome and different karyotypes underwent full cardiological evaluation (physical examination, electrocardiogram, chest X-ray and echocardiogram). Congenital heart disease was found in 17%. When compared with the general population, a significantly higher incidence was present only for aortic coarctation and partial anomalous pulmonary venous drainage (p less than 0.001). Among cardiac anomalies in Turner's syndrome patients, aortic malformations (aortic coarctation, aortic stenosis, bicuspid aorta) are the most frequent, followed by partial anomalous pulmonary venous drainage, the incidence of which has been much higher than that previously reported. We have observed that the most severe malformations are preferably found in 45,X, while the ring pattern is characterized by a very high incidence of bicuspid aorta. No anomaly was found in the patients with X isochromosome.

Staphylococcus aureus endocarditis in a newborn with transposition of the great arteries: successful treatment.

A newborn with transposition of the great arteries developed methicillin-resistant Staphylococcus aureus endocarditis a few days after cardiac catheterization and atrial septostomy performed through the umbilical vein. The association of vancomycin and rifampicin was successful after vancomycin alone proved insufficient.