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PubMedDate not supplied

Familial truncus arteriosus: a possible autosomal-recessive trait.

Truncus arteriosus is a relatively uncommon congenital malformation. It accounts for approximately 1% of congenital heart diseases. The defect occurs sporadically but 22q11 deletion is frequently noted in such patients with conotruncal defects. We studied six cases of TA in four closely related families. Analysis of karyotypes in these cases was normal. Family 1 has one affected male infant who was born in 1998. Family 2 has two affected children (one male and one female) who were born in 1989 and 1995, respectively. They have four other normal children. Family 3 has two affected children (one male and one female) who were born in 1981 and 1984, respectively. They have three other normal children. Family 4 has one affected male born in 1998 and another healthy child. All parents of all affected children are double cousins. The data in this study are compatible with an autosomal-recessive inheritance, but multifactorial inheritance may also play a role.

Chromosome Aberrations↗
PubMed2003

Chromosome 22q11 deletion in patients with truncus arteriosus.

The association between truncus arteriosus and chromosome 22q11 deletion is well recognized, but the frequency of a chromosome 22q11 deletion has not been characterized in a large series of patients with truncus arteriosus, and little is known about cardiovascular morphologic features associated with a chromosome 22q11 deletion in this group of patients. We prospectively enrolled 50 consecutive patients with truncus arteriosus who were admitted to The Children's Hospital of Philadelphia between November 1991 and December 2001. Patients were studied for chromosome 22q11 deletion using fluorescence in situ hybridization. Correlations between anatomic features and chromosome 22q11 deletion were assessed. A chromosome 22q11 deletion was detected in 20 of the 50 patients (40%). Anatomic features that were significantly associated with a chromosome 22q11 deletion included a right-sided aortic arch, an abnormal aortic arch branching pattern, both abnormal sidedness and branching of the aortic arch, and the combined category of either abnormal sidedness or branching of the aortic arch. There was a trend toward the association of discontinuous pulmonary arteries with a chromosome 22q11 deletion. Interruption of the aortic arch and truncal valve morphology and function did not correlate significantly with the presence of a chromosome 22q11 deletion. In conclusion, a chromosome 22q11 deletion is common in patients with truncus arteriosus, and those with abnormal sidedness and/or branching of the aortic arch are significantly more likely to have a deletion. Clinically important anatomic variables, such as abnormalities of the truncal valve and interrupted aortic arch, were not associated with a chromosome 22q11 deletion in this series.

Chi-Square Distribution↗
PubMed2003

Postductal origin of the left carotid, left subclavian, and aberrant retroesophageal right innominate arteries in truncus arteriosus with interrupted aortic arch.

A neonate presented to the C.S. Mott Children's Hospital at the University of Michigan with truncus arteriosus and interrupted left aortic arch, with associated postductal origin of the left carotid, left subclavian, and aberrant retroesophageal right innominate arteries. In addition, the patient was diagnosed with DiGeorge syndrome. This unique anomaly has not been previously reported. The anatomy, pathophysiology, embryology, and successful surgical management of this anomaly are reviewed in this report.

Aortic Arch Syndromes↗
PubMedDate not supplied

Chromosome 22q11 deletions in patients with conotruncal heart defects.

We performed this study to determine the frequency of 22q11 deletions and associated phenotypic features and abnormalities in conotruncal heart defects. Sixty-one patients with conotruncal heart defects, including tetralogy of Fallot (TOF; n = 32), pulmonary atresia/ventricular septal defect (PAVSD; n = 12), double-outlet right ventricle (DORV; n = 5), transposition of the great arteries (TGA; n = 4 ), truncus arteriosus (TA; n = 4), subpulmonary ventricular septal defect (SPVSD; n = 3), and interrupted aortic arch (IAA; n = 1), were enrolled in this study and screened for 22q11 deletions by the fluorescence in situ hybridization technique. Phenotypic features and associated abnormalities, including submucosal cleft palate, abnormal facies, square nose, nasal voice, abnormal ears, long and slender fingers, delayed development, mental retardation, delayed growth, short stature, and hypocalcemia, were examined in these patients. Nine of 61 patients (14.8%) had 22q11 deletions, including 100% of IAA, 50% of TA, 33.3% of SPVSD, 33.3% of PAVSD, and 3.1% of TOF. Deletions were not detected in DORV and TGA. In all patients with 22q11 deletions, > or =1 phenotypic features or associated abnormalities were observed. A subgroup of patients with IAA, TA, SPVSD, and PAVSD associated with phenotypic features or abnormalities warrants evaluation for the presence of 22q11 deletions.

Abnormalities, Multiple↗
PubMedDate not supplied

A cross between truncus arteriosus communis and aortopulmonary septal defect: a hitherto undescribed entity.

Case history and necropsy findings of a 5-month-old infant with a unique heart defect with features of truncus arteriosus communis and aortopulmonary defect in combination with severe tricuspid stenosis are presented. There is a wide spectrum of remarkable heart defects between truncus arteriosus communis and aortopulmonary septal defect.

Aortopulmonary Septal Defect↗
PubMedDate not supplied

Truncus arteriosus communis associated with mitral valve and left ventricular hypoplasia without ventricular septal defect: unique combination.

A unique case of truncus arteriosus communis associated with mitral valve and left ventricular hypoplasia, but without ventricular septal defect (VSD), is described. The embryology of this anatomy is considered. The neonatal hemodynamics and the clinical implications of this rare combination of defects are discussed.

Echocardiography↗
PubMedDate not supplied

Late development of functional subvalvar stenosis after repair of truncus arteriosus.

The late development of subvalvar stenosis following truncus repair is described. It may occur in patients with an overriding truncal valve and a relatively small ventricular septal defect (VSD) closed with an inappropriately sized patch. Management consisted in enlarging the VSD and closing it with a large, tailored patch. Consideration should be given to enlarging the VSD at the time of original repair if the truncal valve is overriding.

Adolescent↗
PubMedDate not supplied

Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22).

Chromosome 22q11 deletion or CATCH 22 is associated with DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome. Associated congenital heart diseases include tetralogy of Fallot, truncus arteriosus, and ventricular septal defect. Associated anomalies of the aortic arch, aortic branches, ductus arteriosus, and pulmonary arteries are more frequent in patients with the deletion than in those without the deletion. Associated anomalies include right aortic arch, cervical aorta, aberrant origin or isolation of the subclavian artery, the absence of the ductus arteriosus, major aortopulmonary collateral arteries, isolation of the left pulmonary artery, and vascular ring formed by the right aortic arch, retroesophageal aortic arch, and left descending aorta.

Aorta, Thoracic↗
PubMedDate not supplied

A case of aortopulmonary window simulating common arterial trunk presented at the age of 13.

We have reported a patient with aortopulmonary window (APW) simulating truncus. In classically defined APW, aorta and main pulmonary artery separate again after a distance from the window and form the aortic arch and pulmonary arteries. However, in our case, there was no separation and they formed a very large pouch from which the great vessels originated. Thus, we believe that we have presented the first case of APW simulating truncus, but with two separate semilunar valves.

Adolescent↗
PubMed2004

Truncus arteriosus communis in a midtrimester fetus: comparison of prenatal ultrasound and MRI with postmortem MRI and autopsy.

Different techniques are used in fetal cardiology, and their accuracy has been demonstrated on several occasions. Color Doppler US has proved to be a reliable and valuable tool in the diagnosis of fetal cardiac abnormalities. Magnetic resonance imaging (MRI) of the fetal heart has, so far, played no role in prenatal diagnostics. We report on a truncus arteriosus communis diagnosed prenatally during a screening ultrasound at 22 weeks of gestation. In addition to real-time ultrasound and color Doppler echocardiography, fetal MRI was performed. Fetal echocardiography arose suspicion of a type I common trunk. Fetal MR showed solely a widened vessel coursing retrocardially and additionally an inhomogeneous fluid distribution of the lung not shown on prenatal US. After termination of pregnancy at 23 weeks of gestation, MR fetography and autopsy were performed, and both found a type II common trunk. MR autopsy of the heart was very reliable in this case and could be an alternative when fetal pathology is not available for different reasons. Postmortem MRI was also able to demonstrate the inhomogeneous fluid distribution in the lung, which was confirmed by autopsy. Fetal and postmortem MR was reliable in the detection of an inhomogeneous fluid distribution in the lung not shown on prenatal US, providing a relevant additional finding to US. Therefore, MRI should be used more often in fetal cardiology, although it still must be further developed.

Abortion, Eugenic↗
PubMed2004

Laterality of the aortic arch and anomalies of the subclavian artery-reliable indicators for 22q11.2 deletion syndromes?

UNLABELLED: A variety of cardiac defects, encompassing truncus arteriosus, tetralogy of Fallot, pulmonary atresia with ventricular septal defect and interrupted aortic arch, are generally summarised as conotruncal malformations. Patients with these cardiac defects were frequently found to have a common microdeletion on chromosome 22, the so-called monosomy 22q11.2. The aim of our study was to determine whether the laterality of the aortic arch or the presence of subclavian artery anomalies (SAA) represent markers for monosomy 22q11.2 in these patients. 170 patients with these cardiac anomalies were recruited at presentation in the paediatric cardiology units of two tertiary referral centres from 1994 until 2003. Of the 170 children and young adults, 33 had interrupted aortic arch, 35 tetralogy of Fallot, 31 truncus arteriosus communis and 71 pulmonary atresia with ventricular septal defect. All were screened for monosomy 22q11.2 and the results were correlated with the laterality of the aortic arch and the presence of SAA contralateral to the aortic arch (aberrant origin from the descending aorta, isolation, distal ductal origin from the pulmonary artery and cervical origin of the right subclavian artery). Monosomy 22q11.2 was present in 59/170 patients (35%). A left aortic arch (LAA) was found in 118 (69%), a right aortic arch (RAA) in 52 (31%) patients. Almost 50% of the patients with RAA (46%), but only 30% of the patients with LAA had monosomy 22q11.2 ( P=0.054). A total of 47 patients (28%) had an anomaly of the subclavian artery, 81% of whom had monosomy 22q11.2. This deletion was found in decreasing percentage in patients with LAA+SAA (85%) >RAA+SAA (75%) >RAA without SAA (28%) >LAA without SAA (13%). CONCLUSION: In patients with conotruncal malformations, anomalies of the subclavian arteries are the most important anatomical marker for the presence of monosomy 22q11.2, independent of the laterality of the aortic arch. Therefore, we recommend cytogenetic testing for this microdeletion in all patients with subclavian artery anomalies and conotruncal malformations.

Adolescent↗
PubMed2002

Hypoparathyroidism in conotruncal heart defects.

UNLABELLED: This retrospective study was designed to evaluate serum levels of intact parathyroid hormone and calcium in patients with conotruncal heart defects with or without microdeletion 22q11.2 in order to investigate a correlation between various types of conotruncal heart defect and hypoparathyroidism. A total of 67 patients with truncus arteriosus, tetralogy of Fallot, pulmonary atresia and ventricular septal defect, interrupted aortic arch or vascular ring were included of whom 28 had a 22q11.2 deletion (Group I) and 39 did not (Group II). In two patients of Group I and in one patient of Group II, parathyroid hormone level was decreased with normal serum calcium levels. No patient of Group II showed hypocalcaemia. In Group I, complete hypoparathyroidism with low parathyroid hormone and hypocalcaemia occurred in seven patients; 5 patients had bilateral anomalies of the right and the left 4th aortic arch derivates. In addition to an interrupted aortic arch type B or a high aortic arch, the contralateral subclavian artery arose cervically, high thoracically or anomalously from the descending aorta. Two patients had unilateral anomalies of the 4th aortic arch system: The origin of the right subclavian artery was cervical or from the descending aorta. CONCLUSION: Hypoparathyroidism occurred in 7 of our 28 patients with conotruncal heart defect and monosomy 22q11.2 and was associated with an extended regression of the 4th aortic arch development on both sides of the aortic arch system.

Adolescent↗
PubMed1983

Two-dimensional echocardiographic study of right ventricular outflow and great artery anatomy in pulmonary atresia with ventricular septal defects and in truncus arteriosus.

In this study, we reviewed M-mode and two-dimensional (2DE) echocardiographic observations in 13 patients with pulmonary atresia with ventricular septal defect and in six patients with truncus arteriosus in order to attempt to identify echocardiographic features distinguishing these two abnormalities in which no anatomic connection exists between the right ventricle and the pulmonary artery. M-Mode features compatible with the diagnosis of pulmonary atresia with a ventricular septal defect (VSD) were a small but identifiable space anterior to the aorta and/or immobile pulmonic valve echoes appearing to open during diastole rather than systole. By 2DE, the proximal and distal segments of the right ventricular outflow tract could be imaged and the length of the atretic segment estimated. In truncus arteriosus, no outflow tract of the right ventricle could be identified by 2DE or M-mode echocardiography, and the origin of the pulmonary artery from the truncus could be imaged directly in four patients with type I and in one patient with type II truncus. Abnormalities of the truncal valve were also present and were imaged by 2DE in three of our five patients. Our study identified specific echocardiographic criteria for diagnosing truncus arteriosus and pulmonary atresia with VSD and for differentiation between them.

Child↗