Type A4 truncus arteriosus: series of 3 cases focused on dual source multidetector CT angiogram findings

Truncus arteriosus (TA) is a rare congenital cardiac anomaly caused by failure of normal conotruncal septation during the fetal development. This aberration leads to a common ventricular outflow artery over the malaligned large ventricular septal defect (VSD), supplying systemic, coronary and pulmonary circulation. People with such anomalous anatomy show variable presentation from early childhood to adult life depending on the severity of defects. We here present three cases of truncus arteriosus with aortic interruption / hypoplasia-coarctation (type A4 truncus arteriosus) with focus on relevant dual source MDCTA findings.

Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies

Kabuki syndrome is a rare multiple anomalies syndrome associated with mutations in KMT2D or KDM6A. It is characterized by infantile hypotonia, developmental delay and/or intellectual disability, long palpebral fissures with everted lateral third of the lower eyelids and typical facial features. Intracranial anomalies occur infrequently in patients with KS and holoprosencephaly has only been recently described. Additionally, though congenital heart diseases are common in patients with KS, to our knowledge truncus arteriosus has never been reported in a patient with KS. We present an unusual case of KS in an infant with holoprosencephaly and truncus arteriosus with partial anomalous pulmonary venous return. Duo whole exome sequencing in our patient identified a pathogenic nonsense variant in exon 10 of KMT2D (c.2782C > T; p. Gln928*) establishing the diagnosis. This report further expands the phenotypic spectrum of patients with Kabuki syndrome and emphasizes the utility of performing large scale sequencing in neonates with multiple congenital anomalies.

Outcome of truncus arteriosus repair: 20 years of single-center experience comparing early versus late surgical repair

Background: Truncus arteriosus is a rare CHD. Neonatal and early infancy repair is recommended though some cases may present late. The aim of our study is to investigate the current results of truncus arteriosus repair and to analyse the differences in outcome and reintervention need between early versus late truncus arteriosus surgical repair. Material and methods: In this cohort study, we reviewed all children who underwent truncus arteriosus repair from 2001 till 2021. We divided patients into two groups; early repair group including patients repaired at age less than 3 months and late repair group including patients who had repair at 3 months of age and later. We compared both groups for outcome variables. Results: Sixty-four children had truncus arteriosus repair including 48(75%) patients in early repair and 16(25%) patients in late repair groups. Peri-operative course was comparable between both groups. Post-surgery, we observed pulmonary hypertension in 6(12%) patients in early repair group comparing with 11(69%) patients in late repair group (p = 0.0001). In the last follow-up visit, pulmonary hypertension resolved in all early repair group patients while 6(37.5%) patients in late repair group continued to have pulmonary hypertension (p = 0.0001). Twenty-three(36%) patients required reintervention including 22(48%) in early repair group versus 1(6%) in late repair group (p = 0.007). Conclusion: In general, the outcome of early truncus arteriosus repair is excellent with resolution of pulmonary hypertension following early repair. Late repair caries higher risk of persistent pulmonary hypertension (37.5%). About one-third of the patients who had truncus arteriosus repair will require re-intervention within 38±38.4 months after initial surgery.

Acyanotic Truncus Arteriosus Type 4 in a Sudden Infant Death: A Case Report

A congenital cyanotic heart defect such as Truncus Arteriosus (TA) is rare and is represented by a single arterial trunk that develops from the heart and gives rise to the pulmonary trunk in several manners. TA comprises 0.7% of all complex congenital heart malformations caused by numerous aetiologies, with the majority being genetic in origin. This malformation can be recognised in the prenatal period so that further medical intervention can be advocated. There are four types of the defect based on the Collett-Edwards classification. Type 4 is a rare form in which the pulmonary arteries are non-existent. Therefore, the lungs are supplied by major aortopulmonary collateral arteries. It may also describe this anatomical picture as pulmonary atresia with VSD. We report here a unique case of truncus arteriosus type 4 in an apparently well-thriving and acyanotic 6-month-old male infant. The deceased was presented with a brief history of inconsolable cry shortly before his demise and the underlying cardiac abnormalities were discovered at autopsy. A meticulous post-mortem examination elucidates a better diagnosis approach. Genetic counselling can be offered to parents in recurrent cases, such as cases of consanguinity.