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Biomedical subjects

J Kachaner

Publications and source records attributed to J Kachaner.

At least 37 records · Page 2Linked to original sources
PubMed2000

Percutaneous replacement of pulmonary valve in a right-ventricle to pulmonary-artery prosthetic conduit with valve dysfunction.

BACKGROUND: Valved conduits from the right ventricle to the pulmonary artery are frequently used in paediatric cardiac surgery. However, stenosis and insufficiency of the conduit usually occur in the follow-up and lead to reoperations. Conduit stenting can delay surgical replacement, but it aggravates pulmonary insufficiency. We developed an innovative system for percutaneous stent implantation combined with valve replacement. METHODS: A 12-year-old boy with stenosis and insufficiency of a prosthetic conduit from the right ventricle to the pulmonary artery underwent percutaneous implantation of a bovine jugular valve in the conduit. FINDINGS: Angiography, haemodynamic assessment, and echocardiography after the procedure showed no insufficiency of the implanted valve, and partial relief of the conduit stenosis. There were no complications after 1 month of follow-up, and the patient is presently in good physical condition. INTERPRETATION: We have shown that percutaneous valve replacement in the pulmonary position is possible. With further technical improvements, this new technique might also be used for valve replacement in other cardiac and non-cardiac positions.

Angiography↗
PubMed2000

Transcatheter implantation of a bovine valve in pulmonary position: a lamb study.

BACKGROUND: Pulmonary regurgitation can lead to severe right ventricular dysfunction, which is a delicate postoperative problem in the long-term follow-up of patients who had surgery for congenital heart diseases. Clinical conditions of patients suffering from pulmonary valve incompetence are improved by valve replacement with a prosthetic valve. To date, the surgical approach is the only option to replace a pulmonary valve. We report the first experience of percutaneous pulmonary valve implantation. METHODS AND RESULTS: A fresh bovine jugular vein containing a native valve was sutured into a vascular stent and then cross-linked with a 0.6% glutaraldehyde solution for 36 hours. After being hand-crimped onto a balloon catheter, the device was inserted percutaneously according to standard stent-placing techniques. The valved stent was finally deployed in the position of the native pulmonary valve of the lamb. Hemodynamic evaluation was carried out before and 2 months after implantation. Anatomic evaluation was finally performed. Percutaneous pulmonary valve replacement was successful in 5 lambs. No complications were noted. Early and late angiographic and hemodynamic studies confirmed a good position of the stents with a competent valve at the end of the protocol. One stent was slightly stenotic, with macroscopically visible calcifications. CONCLUSIONS: Nonsurgical implantation of pulmonary valves is possible in the lamb. This new technique is similar to standard stent implantation. Thus, it should be feasible in humans, in whom it will lead to a significant reduction of reoperations in patients in need of pulmonary valve replacement.

Angiography↗
PubMed2000

New insight into left ventricular function in tricuspid atresia after total cavopulmonary connection: a three-dimensional echocardiographic study.

BACKGROUND: In patients with tricuspid atresia palliated by construction of a total cavopulmonary connection, both pulmonary and systemic circulations depend on the performance of the dominant left ventricle. When estimating the volume of such ventricles using cross-sectional echocardiography, it is necessary to make assumptions concerning the geometry of the ventricular shape. This is avoided by three-dimensional echocardiography, which provides direct volumetric data. Our purpose was to apply this new method to quantify left ventricular volumes and function in patients with tricuspid atresia after construction of a total cavopulmonary connection. METHODS: We studied ten patients (median age: 8 years) with tricuspid atresia who had undergone a total cavopulmonary connection, comparing them with 10 normal children matched for age, sex and size. The three-dimensional echocardiography was performed with electrocardiographic and respiratory gating. A new transthoracic integrated probe designed for small children was used with a rotational scanning increment of 3 degrees. The 60 slices obtained from the ventricular cavity were stored and formatted in a commercial system (TomTec). End-diastolic and end-systolic volumes, stroke volume and ejection fraction were calculated after manual tracing of the endocardial surfaces. The volumes were indexed to the body surface area. RESULTS: As seen in the reconstructions, the dominant left ventricle in tricuspid atresia had a spherical shape, whereas the normal left ventricle is oblong. The left ventricular volumes and function in tricuspid atresia were 54+/-4 ml/m2 (end-diastolic volume), 28+/-3 ml/m2 (end-systolic volume), 26+/-7 ml/m2 (stroke volume) and 48+/-6% (ejection fraction). These volumes were not different from those obtained in the controls (p = NS). The left ventricular stroke volume and ejection fraction in 10 patients with tricuspid atresia were lower than those calculated for the controls (p < 0.05). CONCLUSIONS: Three-dimensional echocardiography provides a quantitative insight into the pathophysiologic function of the dominant left ventricle in tricuspid atresia after construction of a total cavopulmonary connection.

Adolescent↗
PubMed2000

Influence of atrial septal defect anatomy in patient selection and assessment of closure with the Cardioseal device; a three-dimensional transoesophageal echocardiographic reconstruction.

BACKGROUND: The maximal diameter of the defect and the dimensions of the septal rims are essential parameters for the selection of optimal cases for device closure. Neither two-dimensional echocardiography nor balloon catheter sizing provide optimal data. Unique three-dimensional echocardiography might help to improve patient selection and assessment of results. Our aim was to optimize transcatheter closure of secundum type atrial septal defects using three-dimensional echocardiography. METHODS: Sixteen patients enrolled in a protocol for atrial septal defect transcatheter closure with the Cardioseal device underwent transoesophageal two- and three-dimensional echocardiography. Maximal diameter and tissue rim of the atrial septal defect were measured and compared by both methods. In the 12 patients selected for closure, the balloon stretched diameter was compared to three-dimensional echocardiography measurements. Device placement was assessed by two- and three-dimensional echocardiography. RESULTS: The shape of the atrial septal defect appeared variable on three-dimensional views: round in nine patients but complex (oval, raquet-shaped, multiple) in seven patients. The surface area of the atrial septal defect varied by 68+/-15% during the cardiac cycle. The correlation between atrial septal defect maximal diameters measured by two-dimensional transoesophageal echocardiography and three-dimensional echocardiography was better in round defects (y=1 x +1.6, r=0.99) than in complex defects (y=0.7 x -0.5, r=0.88). The antero-superior rim could only be properly assessed by three-dimensional echocardiography. In 12 patients the correlation between stretched diameter and three-dimensional echocardiography maximal diameter was poor (y=0.3 x +13, r=0.41). After placement of the device, three-dimensional echocardiography enabled the mechanism of residual shunting to be understood in three patients. CONCLUSIONS: Dynamic three-dimensional echocardiography enhances the understanding of the anatomy and physiology of atrial septal defect and should be an important process in future initiatives for device closures.

Adolescent↗
PubMed2000

Characteristics and results of epicardial pacing in neonates and infants.

The results of epicardial pacing in infants with isolated congenital complete atrioventricular block (CAVB) are reported. Thirty-four patients, aged 1 day to 20 months (22 patients < 1 month), were paced between 1988 and 1998. Thirty had bradycardia < 50 beats/min with symptoms in 12 patients, and 4 patients were paced because of associated ventricular ectopy or prolonged QT interval. In thirty cases, the electrodes were implanted through a left thoracotomy and connected to an abdominal generator; in four, the subxyphoid approach was preferred. Twenty-two children had dual chamber units. There was no operative death, but three patients died later of cardiomyopathy. Seven infants were reoperated for electrode displacement, infection, exit block, and pacemaker sensitivity. Chronic ventricular thresholds ranged from 0.3 to 2 V except in one case (4 V) and proper atrial sensing was lost in two cases. All children are doing well and the generator has lasted at least 5 years in 16 cases. In conclusion, epicardial pacing in infants with CAVB can be done with satisfactory results. There was no mortality in relation with pacing and thresholds have improved with the use of steroid-eluting electrodes. The deep location of the generator prevents cutaneous erosion and allows implantation of large units with a longer life duration.

Cardiac Pacing, Artificial↗
PubMed2000

Mechanical properties of the common carotid artery in Williams syndrome.

OBJECTIVE: To determine whether arterial wall hypertrophy in elastic arteries was associated with alteration in their mechanical properties in young patients with Williams syndrome. METHODS: Arterial pressure and intima-media thickness, cross sectional compliance, distensibility, circumferential wall stress, and incremental elastic modulus of the common carotid artery were measured non-invasively in 21 Williams patients (mean (SD) age 8.5 (4) years) and 21 children of similar age. RESULTS: Systolic and diastolic blood pressures were higher in Williams patients (125/66 v 113/60 mm Hg, p < 0.05). The mean (SD) intima-media thickness was increased in Williams patients, at 0.6 (0.07) v 0.5 (0.03) mm (p < 0. 001). Normotensive Williams patients had a lower circumferential wall stress (2.1 (0.5) v 3.0 (0.7) mm Hg, p < 0.01), a higher distensibility (1.1 (0.3) v 0.8 (0.3) mm Hg(-1).10(-2), p < 0.01), similar cross sectional compliance (0.14 (0.04) v 0.15 (0.05) mm(2). mm Hg(-1), p > 0.05), and lower incremental elastic modulus (7.4 (2. 0) v 14.0 (5.0) mm Hg.10(2); p < 0.001). CONCLUSIONS: The compliance of the large elastic arteries is not modified in Williams syndrome, even though increased intima-media thickness and lower arterial stiffness are consistent features. Therefore systemic hypertension cannot be attributed to impaired compliance of the arterial tree in this condition.

Adolescent↗
PubMed2000

Impairment of cardiac neuronal function in childhood dilated cardiomyopathy: an 123I-MIBG scintigraphic study.

UNLABELLED: Abnormalities of norepinephrine uptake have been found to reflect impairment of cardiac adrenergic neuronal function in adults with heart failure. To our knowledge, no data on childhood dilated cardiomyopathy (DCM) are available. The aim of this study was to assess the cardiac neuronal function using 123I-metaiodobenzylguanidine (MIBG) scintigraphy in children with idiopathic DCM. METHODS: We studied 26 patients (mean age, 44+/-50 mo) with DCM and left ventricular dysfunction and 12 control subjects (mean age, 49+/-65 mo) with normal left ventricular function. All subjects underwent planar cardiac imaging after intravenous injection of 20-75 MBq 123I-MIBG. A static anterior view was acquired 4 h after injection. The heart-to-mediastinum count ratio was measured as described previously. RESULTS: On the basis of a reduction of the heart-to-mediastinum count ratio, cardiac neuronal uptake of 123I-MIBG was significantly decreased in patients with DCM compared with cardiac uptake in control subjects (172%+/-34% versus 277%+/-14%; P<0.0001). A significant correlation was found between left ventricular ejection fraction and 123I-MIBG cardiac uptake in patients with DCM (y = 2.5x + 113.3; r = 0.80; P<0.0001). CONCLUSION: Cardiac adrenergic neuronal function is impaired in children with idiopathic DCM. 1231-MIBG cardiac scintigraphy is a useful tool to assess cardiac neuronal function in childhood DCM.

Cardiomyopathy, Dilated↗
PubMed2000

[The best of pediatric cardiology in 1999].

Paediatric cardiology is a dynamic field of progress for results. Those which have marked the year 1999 include the introduction of new techniques of cardiovascular imaging and interventional cardiology, and the new consequences of collaboration with workers in foetal cardiology and medical and molecular genetics. The advances in imaging are the result of those of microprocessors which enable three-dimensional reconstruction of ultrasonic, radiological or magnetic resonance images. This provides intracardiac or intravascular views which are very similar to those seen by the surgeon. This is a major tool for improving the diagnosis and treatment of congenital heart disease. Similarly, the introduction of programmes of tissue recognition enables fine ultrasonic analysis of the vascular wall and of endothelial function leading to the opening of a new chapter of preventive vascular medicine from the earliest age. Paediatric interventional cardiology has also progressed rapidly and the past year has been that of a consensus on the closure of a great number of atrial septal defects by new prostheses implanted and anchored in a simpler and safer manner. Prenatal diagnosis has become a crucial factor in the treatment and prognosis of congenital heart disease which is life-threatening in the first hours of life, explaining the benefit when this is applied to transposition of the great vessels or to coarctation of the aorta. Finally, advances in genetics have led to the identification of several genes of heart malformations and the correlations between interstitial microdeletions and syndromes often associated with heart disease: chromosome 22q11 and the Di George syndrome, chromosome 7q and the Williams syndrome. They have even allowed linking of myocardial and cerebellar abnormalities of a degenerative neuropathy (Friedreich's disease) to an abnormality of the mitochondrial respiratory chain, thus giving the opportunity of a real treatment.

Cardiology↗
PubMed2000

[Percutaneous closure of patent ductus arteriosus with the Amplatzer duct occluder].

BACKGROUND AND METHODS: Percutaneous closure of a moderate-to-large sized patent ductus arteriosus using multiple coils or a Rashkind double-umbrella may be technically demanding and raises a significant rate of embolization and residual shunting. This is why we tried a new self-expandable device called Amplatzer Duct Occluder to close transvenously large ductuses in eighteen patients at a median age of 2.8 years (range: 0.7 to 34). They had a patent ductus arteriosus with a minimal diameter > 3 mm (mean: 5 +/- 2 mm). The device had a mean diameter of 9 +/- 2 mm and was delivered through a 6F venous sheath. Aortography was done 5 to 10 minutes after the release and follow-up evaluation was performed with color Doppler echocardiography within 24 h, 1 and 3 to 6 months after the procedure. RESULTS: Placement was successful in all but the first patient (95%). Complete closure was achieved immediately in 4/17 patients (24%) and in 13/17 (76%) 24 h later. Two patients were lost for follow-up. Complete closure was confirmed in 14 of the 15 (93%) reviewed patients at 1 and 3 months. In all patients with a ductal diameter < or = 7.5 mm the closure was complete at 1 month. Embolization occurred in one patient with a 9.7 mm duct and surgery was undertaken. A mild and transient hematuria was observed in one patient. No pulmonary artery stenosis nor aortic obstruction were observed on follow-up. CONCLUSION: The Amplatzer Duct Occluder device offers a safe and effective option to treat patients with a ductus arteriosus which minimal diameter is up to 7.5 mm.

Adolescent↗
PubMed2000

[Three-dimensional reconstruction by transesophageal echocardiography of Amplatzer and CardioSEAL prosthetic devices after percutaneous closure and atrial septal defects].

OBJECTIVE: The Amplatzer and cardioSEAL devices are currently used for percutaneous closure of atrial septal defects. The in vivo morphology of these devices is unknown and this is why we sought to describe their geometric profile by three-dimensional echocardiography. METHODS: Thirteen patients, aged 6 to 18, underwent transcatheter closure of a secundum type atrial septal defect with either the CardioSEAL (n = 8) or the Amplatzer (n = 5) device. Three-dimensional reconstructions of the defect were obtained from transoesophageal bidimensional echocardiographic views. RESULTS: In the Amplatzer group, the stretched diameter of the defect was larger than in the CardioSEAL group (22 +/- 2 vs 18 +/- 1 mm, p = 0.003), but ehocardiographic surfaces were the same (3.3 +/- 1 vs 3.6 +/- 1 cm2, p = 0.3). The surface of the CardioSEAL device was measured at 4.8 +/- 2 cm2 whereas the Amplatzer's surface was 6.8 +/- 2 cm2 (p = 0.03). The Amplatzer device had a volume of 9 +/- 1 cm3 while the CardioSeal's volume was 3.1 +/- 1 cm3 (p < 0.0001). CONCLUSIONS: The CardioSEAL device occupies a small volume but it covers less of the septal defect and this may result in a higher incidence of residual shunting. The Amplatzer device almost always occludes the septum, but it tends to bulge into the atria and may cause mechanical complications.

Adolescent↗
PubMed2000

[Cardiac pacing in children with breath-holding spells].

Breath-holding spells are common and usually benign. However, the authors chose to implant a pacemaker in children presenting with severe symptoms. Over the last 15 years, 11 children with severe breath-holding spells were paced. All had reflex spells with loss of consciousness, spontaneously or after minor trauma, and 6 had seizures. All had a normal ECG with marked bradycardic responses to ocular pressure. The 24 hour ECG showed pauses (12-25 s) in 4 patients, sudden bradycardia (< 30/min) in 3 patients, and sinus arrhythmia in the remaining 4 patients. Medical treatment has been unsuccessful. Pacemaker implantation was decided because of the severity and/or the frequency of the episodes in 10 children, and because of intolerable familial anxiety in the other one. Age at implantation ranged from 14 months to 5.5 years (mean: 16.5 +/- 20 months). The device was implanted by an epicardial (7) or from an endocardial (4) approach. All had a ventricular demand device, except for one who was paced from the atrium. The results were spectacular, with disappearance of spells and restoration of normal activities. Holter monitoring showed normal function of the pacemakers. Recurrences were observed in 3 patients, either due to loss of capture (2 cases) or to the need for explantation because of cutaneous erosion. Follow-up ranged from 10 months to 14 years (mean: 7.9 +/- 4.2 years); 2 patients were lost to follow-up; 4 patients totally recovered and only 5 are still vagotonic. Two pacemakers have been changed at 13 and 15 years respectively. The authors conclude that although psycho-social factors play a part in breath-holding spells, pacemaker implantation is very effective in suppressing symptoms in severely affected children.

Age of Onset↗
PubMed2000

[Therapy and prognosis of infectious complete atrioventricular block in children].

From 1983 to 1997, we have studied ten children with complete atrioventricular block likely due to myocarditis in order to assess its prognosis and to define a therapeutic strategy. Their age ranged from 6 days to 16 years (median: 4.1 years). All were admitted for sudden complete block, with symptoms in seven: syncope or fainting, seizures, collapse. Three had an asymptomatic bradycardia which was detected on routine auscultation in children with fever or already hospitalized; fever was present in 5. The disease was related to infection on biological data in 4 cases (1 listeriosis and 3 seroconversions for Epstein Barr or cytomegalic or Coxsackie B viruses), on a myocardial biposy in 1 case and on scintigraphic data in 1 case. In the remaining 4, indirect arguments were considered such as infectious context, normal recent ECG, favourable outcome. Five children were given intravenous isoprenalin with ventricular tachycardia in 3. Five were treated with steroids and 3 with specific antiviral agents. Seven patients were paced temporarily. One child died, 6 recovered totally and 3 have a permanent block with a definitive pacemaker implanted in 2. In conclusion, sudden acquired complete atrioventricular blocks are often ill-tolerated in children and have to be treated with transient pacing. Recovery occurs as a rule but some of these blocks may be definitive. Infective myocarditis is likely to be the cause of the disease even if the pathogen agent cannot always be identified.

Adolescent↗
PubMed2000

[Prenatal diagnosis of conotruncal heart diseases. Results in 337 cases].

Prenatal diagnosis of conotroncal disease has developed by examination of the great arteries during morphological foetal ultrasonic scanning in the second term of pregnancy. This study reports the results of a series of 337 of these malformations diagnosed in the foetus over five and a half years. Their incidence with respect to all foetal cardiac malformations is 16.2%. Tetralogy of Fallot and pulmonary atresia with ventricular septal defect make up 56% of these cases, vascular malposition 16%, coarctation with or without interruption of the aortic arch 14%, truncus arteriosus 9% and agenesis of the pulmonary valves 5%. A karyotypic anomaly was found in 28 cases (8.2%) and, in the foetus with a normal standard karyotype, deletion of chromosome 22q11 was identified in 54 out of 237 cases. There was an associated polymalformative syndrome in 29 cases (8.3%). The training of obstetricians has increased the number of antenatal diagnoses of conotroncal abnormalities. Prenatal counselling should be given by a pluridisciplinary team because the association of these malformations with chromosomal abnormalities or with syndromes difficult to diagnose is common.

Cardiovascular Abnormalities↗
PubMed2000

[Pseudo-inherited form of left heart obstructive defects revealing maternal phenylketonuria].

If an adequate diet is not given to mothers with phenylketonuria, their offsprings often exhibit intra-uterine growth retardation with associated microcephaly and various malformations. Here, we report two families in whom we observed recurrent left heart malformations associated with microcephaly masquerading as a mendelian condition and revealing a maternal phenylketonuria. These observations suggest that when confronted to recurrent heart malformations with extra-cardiac defects that are not due either to an inherited chromosomal anomaly or to a well characterized mendelian disease, a maternal teratogen should be identified and more particularly maternal hyperphenylalaninemia if an intra-uterine growth retardation or a microcephaly is part of the syndrome.

Female↗
PubMed2000

[Cardiovascular impact of end-stage renal insufficiency in children undergoing hemodialysis].

Cardiac hypertrophy and arterial dysfunction have been described in end-stage renal disease (ESDR) in adults. The incremental elastic modulus (Einc), is a marker of vascular wall material stiffness and an independant predictor of cardiovascular mortality in adults with ESRD on hemodialysis. The relationship between arterial changes and the heart is unknown in the children with ESRD in the same conditions. Using a high-resolution vascular ultrasound and a computerized system of measurement (Iotec), we assessed noninvasively 10 ESRD patients (mean +/- SD, age, 11.5 +/- 4 years; blood pressure [BP], 120 +/- 10/63 +/- 4 mmHg) and 10 age-, sex-, and BP-matched controls (mean +/- SD, age, 11 +/- 4 years; BP, 114 +/- 8/58 +/- 8 mmHg). The systolic and diastolic diameter of the common carotid artery (CCA), the thickness of the wall (intima-media thickness, IMT), the cross sectional compliance (CSC), the cross sectional distensibility (CSD) and the (Einc) were determined. CSC and CSD were evaluated at the same level of pressure. The CCA pressure waveform was obtained by applanation tonometry to assess the reflected wave by the augmentation index (AI). Further the left ventricular mass index was assessed. The flow mediated dilation (FMD) (endothelium-dependent function) and the vasodilation induced by glyceryl-trinitrate (GTNMD) (GTN, an endothelium-independent dilator) were evaluated at the brachial artery site. Compared to control subjects, ESRD patients have mechanical artery dysfunction with lower CSC and CSD (0.11 +/- 0.04 vs 0.18 +/- 0.05 mm2.mmHg-1; p < 0.01; 0.43 +/- 0.10 vs 0.82 +/- 0.20 mmHg-1.10(-2); p < 0.001) and higher Einc (2.60 +/- 1.00 vs 1.40 +/- 0.30 mmHg.10(3); p < 0.001). Furthermore an earlier return of the reflected pulse wave (AI -0.24 +/- 0.08 vs -0.58 +/- 0.06; p < 0.005) is correlated to LV mass index (r = 0.55, P < 0.01) that is significantly increased (134 +/- 63 vs 69 +/- 25 g/m2; p < 0.005). These patients have an impaired FMD (4 +/- 2 vs 7 +/- 1%; p = 0.02) with a normal GTNMD. This study shows that early arterial dysfunction can occur in children with ESRD.

Adult↗
PubMed1999

Detection of transposition of the great arteries in fetuses reduces neonatal morbidity and mortality.

BACKGROUND: Transposition of the great arteries (TGA) is a life-threatening malformation in neonates, but it is amenable to complete repair. Prenatal detection, diagnosis, and early management may modify neonatal mortality and mortality. METHODS AND RESULTS: Preoperative and postoperative morbidity and mortality were compared in 68 neonates with prenatal diagnosis and in 250 neonates with a postnatal diagnosis of TGA over a period of 10 years. The delay between birth and admission was 2+/-2.8 hours in the prenatal group and 73+/-210 hours in the neonatal group (P<0.01). Clinical condition at arrival, including metabolic acidosis and multiorgan failure, was worse in the neonatal group (P<0.01). Once in the pediatric cardiology unit, the management was identical in the 2 groups (atrioseptostomy, PGE1 infusion, operation date). Preoperative mortality was 15 of 250 (6%; 95% CI, 3% to 9%) in the neonatal group and 0 of 68 in the prenatal group (P<0.05). Postoperative morbidity was not different (25 of 235 versus 6 of 68), but hospital stay was longer in the neonatal group (30+/-17 versus 24+/-11 days, P<0.01). In addition, postoperative mortality was significantly higher in the neonatal group (20 of 235 versus 0 of 68, P<0.01); however, the known risk factors for operative mortality were identical in the 2 groups. CONCLUSIONS: Prenatal diagnosis reduces mortality and morbidity in TGA. Prenatal detection of this cardiac defect must be increased to improve early neonatal management. In utero transfer of fetuses with prenatal diagnosis of TGA in an appropriate unit is mandatory.

Humans↗
PubMed1999

Prenatal detection of a tetralogy of Fallot with origin of the left pulmonary artery from the ascending aorta in a familial 22q11 microdeletion.

Here we report a case of prenatal diagnosis of anomalous origin of the left pulmonary artery from the ascending aorta associated with a tetralogy of Fallot in a familial form of 22q11 deletion. The mother, who had a normal heart and a velo-cardio-facial syndrome, had a first child with a pulmonary atresia plus ventricular septal defect associated with a 22q11 deletion. Prenatal diagnosis during the second pregnancy identified the above-described cono-truncal anomaly and FISH study showed a recurrent 22q11 deletion. This case illustrates the intrafamilial variability of cardiac involvement in 22q11 deletion as well as the possibility of diagnosing complex cono-truncal malformations during fetal life.

Adult↗