Biomedical subjects
Publications and source records attributed to B Marino.
In our series of 27 children with various types of interruption of the aortic arch (IAA), deletion 22q11 is prevalent in patients with simple IAA type B, and is absent in patients with IAA type A and in those with associated additional major cardiac defects. Anomalies of the infundibular septum should be considered a characteristic aspect of children with IAA and deletion 22q11.
The atrioventricular canal defect (AVCD) is one of the congenital heart defects most frequently associated with extracardiac anomalies. The association of AVCD with Down syndrome and heterotaxy has been studied extensively. However, little information is available about the prevalence of genetic syndromes and additional cardiac malformations in patients with AVCD and visceroatrial situs solitus without Down syndrome. This paper reviews the genetic and cardiologic characteristics of patients with non-Down AVCD and situs solitus in the literature and our series of 203 consecutive patients. In our experience, 132 (65%) of the patients have nonsyndromic AVCD, while 71 (35%) have non-Down syndromic AVCD. Chromosomal imbalances were detected in 7 cases (3%), Mendelian syndromes or associations in 44 (22%), and extracardiac anomalies without an identifiable syndrome in 20 (10%). Deletion 8p is prevalent among those with chromosomal imbalances. Noonan, Ellis-van Creveld, oro-faciodigital, Smith-Lemli-Opitz syndromes and VACTERL cases are frequent among patients with recognizable or identifiable nonchromosomal conditions. Based on this analysis of the type of AVCD and prevalence of associated cardiac anomalies in the different groups of patients, we found that: 1) the complete form is prevalent in patients with chromosomal imbalances; 2) the complete form is more frequently associated with additional cardiac defects, mainly left side obstructive lesions; and 3) additional cardiac anomalies are prevalent in syndromic patients. In conclusion, AVCD is a congenital heart defect with great variability in the anatomic patterns and heterogeneity of causes also in the subset without Down syndrome and without heterotaxy. The peculiar anatomic subtypes of this cardiac defect are associated with specific genetic conditions.
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Oral-facial-skeletal (OFS) syndromes include short rib-polydactyly (SRP) and oral-facial-digital (OFD) syndromes. Congenital heart defect (CHD), mainly atrioventricular canal defect (AVCD), is a cardinal finding in the Ellis-van Creveld (EVC) syndrome, but it occurs only occasionally in other SRP and OFD syndromes. The cardiac characteristics of all patients with OFS syndromes evaluated at our hospital from January 1986 to April 1997 were analyzed and compared with published reports. Ten patients with EVC syndrome, one with McKusick-Kaufman syndrome, and one with OFD syndrome type II had AVCD. Eight patients (67%) had a common atrium, eight (67%) a persistent left superior vena cava (LSVC) draining into the left atrium because of an unroofed coronary sinus in five (42%), and left-sided obstructive lesions in three (25%). One patient with EVC syndrome had AVCD, common atrium, double outlet right ventricle, persistent LSVC associated with "asplenia syndrome," visceral heterotaxia, and right isomerism. The combination of CHDs found in the personal series of OFS syndromes suggests pathogenetic similarity with heterotaxia syndromes. Published results also corroborate the association between OFS syndromes and CHDs usually occurring in heterotaxia. Molecular studies could shed light on the genetic mechanisms implicated in the cause of the OFS and heterotaxia syndromes.
OBJECTIVES: To develop a measure of parental perceptions of pediatric inpatient quality of care, to identify processes of care that influence these perceptions, and to describe these perceptions of care. DESIGN: An interdisciplinary team modified an existing measure of inpatient care for adults using focus groups and expert review. The resulting survey was administered by telephone. SETTING: Tertiary care pediatric hospital. PATIENTS: Trained telephone interviewers obtained reports from parents of children discharged from the hospital during specified months. This report is based on the answers to 122 questions provided by 3622 (77%) of 4724 parents who responded when surveyed from 1991 through 1995. MAIN OUTCOME MEASURES: Parents provided reports about specific clinical experiences, overall ratings of care, and patient demographic and illness characteristics 2 weeks after patient discharge from the hospital. The analysis classified reports about pediatric care as either problems or not problems. Problems in different areas of care were averaged to create scores for the dimensions. RESULTS: Parents most often noted problems related to hospital discharge planning (18%) and pain management (18%) and less often reported problems concerning communication about surgery (10%) or transmission of information to children (6%). Problems in communication between clinicians and parents correlated most strongly with overall quality ratings by parents (r=0.59). Parents' specific reports of problems with care accounted for 42% of the variation in their overall assessments of the inpatient care experience. CONCLUSIONS: Parental assessment of inpatient pediatric care rests heavily on the quality of communication between the clinician and parent. Specific processes of care strongly influence overall assessments. Such reports could be used to focus the quality-improvement activities of hospitals and increase the accountability of providers of care to children and families.
We report on a twin pair presenting with atrioventricular canal defect (AVCD) with right ventricular dominance in one twin, and classic hypoplastic left heart syndrome (HLHS) in the other. According to the developmental-mechanistic approach, AVCDs belong to the group of extracellular matrix abnormalities, whereas classic HLHS is included among flow lesions. Twin pairs with congenital heart defect (CHD) generally have concordant defects by mechanistic group. The occurrence of AVCD and classic HLHS in twins or siblings has never been reported. Interestingly, hypoplasia of the left ventricle is the anatomic characteristic which unifies the discordant CHDs observed in our twins. The occurrence of CHD in both members of the twin pair implies a strong influence of genetic factors. At present, the genetic basis determining the different cardiac phenotypes observed in our twins is unknown. The report of these peculiar associations may be useful to stimulate further studies and shed light on the etiology of CHDs.
OBJECTIVE: To report the relative prevalence of various forms of congenital heart disease (CHD) in children with Noonan syndrome (NS) and to describe anatomic characteristics of the subgroup of patients with atrioventricular canal (AVC). STUDY DESIGN: Phenotypic and cardiologic examinations were performed in 136 patients with NS and CHD evaluated at our hospital from January 1986 to December 1998. Cardiac evaluation included chest x-ray film, electrocardiogram, 2-dimensional and color Doppler echocardiography, cardiac catheterization with angiocardiography, and cardiac surgery. RESULTS: The CHDs classically reported in NS, including pulmonary stenosis (39%), hypertrophic cardiomyopathy (10%), atrial septal defect (8%), and tetralogy of Fallot (4%), are well represented in our series; however, aortic coarctation (9%) and anomalies of the mitral valve (6%) may also occur in this syndrome. Moreover, AVC was diagnosed in 21 patients, representing 15% of all CHDs in our series. All patients showed a partial form of AVC, and an associated subaortic stenosis caused by additional anomalies of the mitral valve was detected in 5 of 21 (23.8%) of those patients. CONCLUSION: Left-sided lesions, such as aortic coarctation and anomalies of the mitral valve, are not rare in patients with NS and CHD. Moreover, in this syndrome AVC is quite frequent, the partial form is prevalent, and subaortic stenosis caused by additional anomalies of the mitral valve may be present. This information should be taken into consideration during the cardiologic evaluation of children with NS.
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Totally anomalous pulmonary venous connection to the azygos vein is a rare congenital heart malformation in which all the pulmonary venous blood returns anomalously to the azygos vein. Among 111 consecutive patients with totally anomalous pulmonary venous connection undergoing surgical correction at our institution between June 1982 and September 1997, this malformation was present in seven cases. By echocardiography, using a subxyphoid short-axis view at the atrial level and a modified suprasternal sagittal view, the malformation was diagnosed when the pulmonary venous confluence was traced posteriorly and superiorly relative to the right pulmonary artery and right bronchus, finally reaching reach the superior caval vein. Totally anomalous pulmonary venous connection to the azygos vein was misdiagnosed in the first two patients, both by echocardiography and angiocardiography. In the subsequent five patients, a precise diagnosis was obtained by echocardiography. Echocardiography, therefore, can be considered an accurate diagnostic tool permitting recognition of totally anomalous pulmonary venous connection to the azygos vein, and permitting corrective surgery without recourse to catheterization and angiography.
Deletions of chromosome 22q11.2 have been associated with distinct phenotypes including DiGeorge syndrome (DGS) and velo-cardio-facial (VCFS) syndrome. These diseases result from a failure to form derivatives of the third and fourth branchial arches during development. DGS/VCFS deletions usually encompass about 3 Mb of genomic DNA in more than 90% of patients. However, deletion mapping studies have failed to demonstrate the existence of a single small region of overlap (SRO) and ruled out any obvious correlation between site or size of deletion and severity of clinical phenotype. We describe three patients carrying 'atypical' deletions presenting the DGS/VCFS phenotype. A comparative analysis of deletions in our patients and those previously published has suggested the existence of five distinct critical regions within the 22q11.2 locus. This observation argues that DGS/VCFS results from haploinsufficiency secondary to a complex and as yet unexplained molecular mechanism, probably involving chromatin effects in mediating gene expression throughout the entire region.
Microdeletion 22q11 (del22q11) is one of the most frequent causes of genetic syndromes. The majority of cases of di George and velocardiofacial syndromes are due to del22q11. These conditions are considered to be developmentally related to neural crest anomalies influencing the differentiation of the branchial arches, including the percursor tissue of the ear. In addition, the UFDIL gene, an ubiquination gene being expressed during embryogenesis in the inner ear primordia, has been identified in the 22q11 critical region. The aim of this study was to evaluate the prevalence of hearing impairment in del22q11 syndrome. Admittance audiometry, behavioural pure tone audiometry and auditory brainstem response (ABR) were performed in 27 children studied at our hospital between 1997 and 1998. Results were related to clinical history, frequency otitis media and immune status. Sensorineural hearing loss was found in 4/27 (15%) patients (severe in three cases, mild in one), conductive hearing impairment in 12/27 (45%) (moderate in four cases, mild in eight) and normal hearing in 11/27 (40%). Interestingly, three of the patients with sensorineural hearing loss had cerebral lesions due to neonatal distress, to hydrocephalus and to post-surgical ischaemia each in one. The prevalence of speech delay, otitis media and low CD3 values was higher among patients with conductive hearing impairment in comparison with those with normal hearing. In conclusion, hearing impairment was documented in 60% of the patients and must be included among the clinical features of del22q11 syndrome. Audiological evaluation is recommended in patients with del22q11 in order to reduce the risk of speech deficit.
Oesophageal atresia (OA) is a congenital defect associated with additional malformations in 30-70% of the cases. In particular, OA is a component of the VACTERL association. Since some major features of the VACTERL association, including conotruncal heart defect, radial aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2 (del(22q11.2)), we have screened for del(22q11.2) by fluorescent in situ hybridisation (FISH) in 15 syndromic patients with OA. Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, anal atresia, neonatal hypocalcaemia, and subtle facial anomalies resembling those of velocardiofacial syndrome. The occurrence of del(22q11.2) in our series of patients with OA is low (1/15), but this chromosomal anomaly should be included among causative factors of malformation complexes with OA. In addition, clinical variability of del(22q11.2) syndrome is further corroborated with inclusion of OA in the list of the findings associated with the deletion.
Congenital heart defects (CHDs) are found in 75% of patients with DiGeorge/velocardiofacial (DG/VCF) syndromes with deletion 22q11.2 (del22q11). The purpose of this study was to analyse clinical features and, particularly, types and subtypes of CHDs associated with del22q11 in our series of patients and in those reported in other studies. All patients with CHD and del22q11 present major or minor clinical features of DG/VCF syndrome. Many children, particularly in the neonatal age, have only a "subtle" phenotype, so that accurate phenotypical evaluation is mandatory for selecting patients with CHD at risk for del22q11. Conotruncal cardiac defects are the most common CHDs in patients with DG/VCF syndrome, but other defects can also occur. Peculiar anatomical subtypes are found in patients with del22q11. They are frequently complex, consisting in malalignment with deficiency of the infundibular septum and anomalies of the aortic arch and pulmonary arteries.
A 68-year-old woman was admitted to hospital with a one-hour history of chest pain and syncopal episode. Transesophageal echocardiography showed an intramural aortic hematoma with cardiac tamponade. The patient underwent repair of the ascending aorta without graft interposition (resection and end-to-end anastomosis). The patient had an uneventful postoperative course and the 38-month follow-up was event-free. This case report shows that end-to-end anastomosis in patients with intramural hematoma and absence of intimal tearing, may provide good long-term results.
Posttraumatic abdominal aortic pseudoaneurysm is a rare lesion. To date, fewer than 30 cases have been reported in the literature, with most of those cases involving the suprarenal aorta. Infrarenal posttraumatic abdominal aortic pseudoaneurysm following abdominal trauma has been reported in only 6 other cases. We observed such a lesion in a 62-year-old man 15 years after blunt abdominal trauma inflicted in a car accident. Back pain was the presenting symptom. Resection and Dacron graft interposition were performed without postoperative morbidity.
BACKGROUND: In the effort to expand the use of arterial conduits for myocardial revascularization, 'Y-graft' techniques are utilized with increasing frequency, although the physiology of this type of composite arterial grafts is not yet fully understood. The aim of this study was to measure changes in blood flow through a 'Y-graft' constructed by anastomosing a segment of inferior epigastric artery (IEA) off the side of an in situ internal thoracic artery (ITA). METHODS: Twenty-two patients who underwent CABG were enrolled in this prospective study. Exclusion criteria were age > 70 years, poor left ventricular function (Ejection Fraction < 0.25) and need for associated cardiac procedures. Blood flow in the TrA-IEA 'Y-graft' was measured in the operating room after completion of left ITA to left anterior descending artery (LAD) and IEA to marginal or diagonal branch anastomoses. Follow-up evaluation was performed at 3 and 12 months postoperatively. RESULTS: After completion of surgery, blood flow in ITA and IEA as measured downstream from the Y anastomosis was 45+/-7 and 39+/-6 ml/min respectively. Temporary occlusion of either branch did not significantly affect flow in the other side of the arterial Y. All patients were discharged from the hospital in excellent condition. At follow-up no cases of angina recurrence were recorded. CONCLUSIONS: Composite ITA-IEA arterial grafts provide excellent short-term clinical results. Blood flow on either side is not affected by run off in the other side branch. Information from this study may be used to understand the role that undivided ITA side branches play in reducing flow rate in an ITA graft harvested during minimally invasive CABG procedures.
Congenital heart defects (CHDs) are genetically heterogeneous, associated with a variety of genetic conditions. Familial aggregation of CHD in patients with and without Down syndrome is rare. We report on the occurrence of concordant CHD in three sets of sibs with discordant karyotypes. In the first family, atrioventricular canal (AVC) was diagnosed in a chromosomally normal child and in his brother with Down syndrome. In the second family, AVC was associated with trisomy 21 in one sib and with trisomy 18 in the other. In the third family, tetralogy of Fallot was present in one patient with Down syndrome and in his nonsyndromic sister. Although the genetic heterogeneity of Down and non-Down CHD is not disputed, a susceptibility to both euploid and aneuploid CHDs could exist, and common predisposing factors could play a role in both conditions.
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.