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Anatomically corrected malposition of the great arteries is a rare CHD, involving alignment and position of the great arteries. We report an infant with situs solitus, atrioventricular discordance, and ventriculoarterial concordance with the aorta arising anteriorly and to the right of the pulmonary artery. A mutation of Nodal gene, implicated in the pathogenesis of human left–right patterning defects, was found.
Several clinical and echocardiographic studies describe morphological and functional findings in patients with hypertrophic cardiomyopathy. Less is known regarding morphological and functional characteristics of the left ventricular hypertrophy found in the setting of the Noonan and LEOPARD syndromes.
To compare non-invasively the morphological and functional findings potentially affecting symptoms and clinical outcome in children with hypertrophic cardiomyopathy as opposed to Noonan and LEOPARD syndromes.
Patients and methods
We studied by echo-Doppler 62 children with left ventricular hypertrophy, dividing them into two subgroups matched for age and body surface area. The first group, of 45 patients with a mean age of 7.5 ± 5.2 years and body surface area of 0.9 ± 0.44 mq, had idiopathic hypertrophic cardiomyopathy. The second group, of 17 patients, all had left ventricular hypertrophy in the setting of Noonan or LEOPARD syndromes. Their mean age was 6.6 ± 5 years, and body surface area was 0.8 ± 0.36 mq. In all patients, we assessed the left ventricular maximal mural thickness, expressed as a Z-score, along with any obstructions in the left and right ventricular outflow tracts. In addition, to define left ventricular diastolic function, we used mitral flow and pulsed Tissue Doppler to record the Ea, Aa, Ea/Aa, E/Ea indexes in the apical 4-chamber view at the lateral corner of the mitral annulus. We also measured the diameters of the coronary arteries in the diastolic frame.
Compared to those with hypertrophic cardiomyopathy, those with syndromic left ventricular hypertrophy showed a significantly increased Z-score for mural thickness, and a higher prevalence of obstruction in the left ventricular outflow tract. In addition, the patients with Noonan or LEOPARD syndromes showed a significantly decrease of Ea and increase of Aa, with a decreased Ea/Aa ratio, all suggestive of left ventricular abnormal relaxation. Moreover, the E/Ea ratio was significantly increased in these patients. The presence of right ventricular hypertrophy, mainly associated with dynamic obstruction in the outflow tract, was detected in only 5 of the 17 patients with Noonan or LEOPARD syndromes, as was dilation of the coronary arteries.
Compared to children with hypertrophic cardiomyopathy, those with left ventricular hypertrophy in the setting of Noonan or LEOPARD syndromes show more ventricular hypertrophy and diastolic dysfunction, due to both abnormal relaxation and reduced compliance. They also exhibit an increased prevalence of obstruction of the left ventricular outflow tract, along with dynamic obstruction of the right ventricular outflow tract and dilated coronary arteries. These morphological and functional findings could explain the different symptoms and clinical events, and potentially define the more appropriate therapeutic options in children with left ventricular hypertrophy of different aetiology.
The revolution in molecular genetics is contributing to the understanding of normal and abnormal cardiovascular development and morphogenesis. Recent investigations have shown that a growing number of congenital heart malformations is due to single gene defects. The combined contribution of clinical and molecular studies is providing the chromosomal map of the genes related to these isolated cardiac defects, and to syndromes characteristically associated with specific cardiac malformations. These advances are relevant to clinical practice, since the accumulated knowledge can improve the quality of management of affected patients.
Bruno Marino, Department of Pediatrics, University of Rome “La Sapienza”, Italy,
Federica Mileto, Department of Pediatrics, University of Rome “La Sapienza”, Italy,
Maria Cristina Digilio, Department of Clinical Genetics, Bambino Gesù Hospital, Rome, Italy,
Adriano Carotti, Department of Pediatic Cardiac Surgery, Bambino Gesù Hospital, Rome, Italy,
Roberto Di Donato, Department of Pediatic Cardiac Surgery, Bambino Gesù Hospital, Rome, Italy
Kieran C. Murphy, Education and Research Centre, Royal College of Surgeons of Ireland,Peter J. Scambler, Institute of Child Health, University College London
Cardiovascular defects (CVD) are an important feature in children with DiGeorge/velo-cardio-facial/conotruncal anomaly face syndrome (DGS/VCFS/CTAF) associated with a chromosome 22q11 deletion (del 22q11). This chapter describes the cardiac anatomy of CVD associated with VCFS and its diagnostic and surgical implications. Children with CVD and VCFS usually have laevocardia, viscero-atrial situs solitus with d-loop of the ventricle, and atrioventricular concordance. There is limited information available on the natural history and the clinical course of children with CVD and VCFS. Prenatal diagnosis of this association, by means of fetal echocardiography and amniocentesis is possible nowadays. Advances in pediatric cardiac surgery have made it possible to treat the majority of patients with CVD with a very low operative risk and excellent long-term outlook. Before cardiac surgery, all children with cardiac defects and VCFS need an accurate clinical investigation to exclude the presence of additional, extracardiac anomalies.
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