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The article presents a case study of 2-month-old female patient who has recovered from severe cyanosis and respiratory distress. The patient had Vertical Veins (VVs) in which pulmonary veins had drained into systemic veins. She had undergone stent implantation to the stenotic VVs to relieve the obstruction. It discusses heterotaxy syndromes in which changeability can be considered in pulmonary to systemic venous connection in all forms of total anomalous pulmonary venous connection (TAPVC).

A response from one of the authors of the article "Pulmonary Hypertension in a Patient with Congenital Heart Defects and Heterotaxy Syndrome" that was published in the previous issue is presented.

A letter to the editor is presented in response to the article "Pulmonary hypertension in a patient with congenital heart defects and heterotaxy syndrome" that was published in the previous issue by H. Keshmiri and colleagues.

A letter to the editor is presented in response to the article "Heterotaxy syndrome with associated agenesis of dorsal pancreas and polysplenia: A case report" by SA Ali and colleagues in the 2015 issue.

Summary Genetic disorders, such as heterotaxy, first provided a link between cilia and developmental heart defects. Now, a genetic screen in mice shows that ciliary dysfunction may indeed be the major contributing factor in the etiology of congenital heart disease. [ABSTRACT FROM AUTHOR]

Introduction: Congenital heart disease (CHD) is the most common congenital abnormality, affecting approximately 7 in 1,000 live births. Transposition of the great arteries (TGA) is the most commonly diagnosed cyanotic heart defect in neonates. We propose that TGA has a genetic cause, likely to be de novo or in genes causing heterotaxy syndrome.Purpose: Exomes of 9 subjects diagnosed with TGA with no family history of CHD and their unaffected parents (trios) were subject to sequencing. The project aims were to: implement the exome bioinformatic analysis pipeline to identify de novo mutations (DNMs) and validate variants called by the pipeline. This is the first study investigating de novo changes in TGA patients.Methods: Bioinformatic pipeline was set up to analyse sequencing performed on Illumina GAIIX following exon capture. Programs used included Casava-Gerald after base calling, NovoAlign/BWA for alignment, SAMtools for variant calling. Integrated Genomics Viewer was used to inspect the variants. Polymerase chain reactions were performed prior to sending off for validation by Sanger sequencing.Results: Bioinformatic pipeline identified on average 188 DNMs per trio. 17 variants were chosen for validation. 1 trio had 2 de novo mutations: 1 nonsense in ZNF227 and 1 missense in PHLPP2. 1 trio had a de novo change in RBP5 gene. 1 trio had an inherited splice site change in RTTN, a candidate gene.Conclusions: The presence of de novo and inherited mutations suggests a complex polygenic cause of TGA. [ABSTRACT FROM PUBLISHER]

The article presents a case study of 20-year-old asymptomatic man, who was referred to clinic for the evaluation of a 2/6 grade systolic cardiac murmur. The transthoracic echocardiography (TTE) revealed enlarged coronary sinus (CS). The saline injection via left antecubital vein was initiated in patient for diagnosis of persistent left superior vena cava. The article discusses association of Heterotaxy syndrome with left ventricular non-compaction.

Abstract: Objective: Situs anomalies refer to an abnormal organ arrangement, which may be associated with severe errors of development. Due regard being given to prenatal magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US), this study sought to demonstrate the in utero visualization of situs anomalies on MRI, compared to US. Materials and methods: This retrospective study included 12 fetuses with situs anomalies depicted on fetal MRI using prenatal US as a comparison modality. With an MRI standard protocol, the whole fetus was assessed for anomalies, with regard to the position and morphology of the following structures: heart; venous drainage and aorta; stomach and intestines; liver and gallbladder; and the presence and number of spleens. Results: Situs inversus totalis was found in 3/12 fetuses; situs inversus with levocardia in 1/12 fetuses; situs inversus abdominis in 2/12 fetuses; situs ambiguous with polysplenia in 3/12 fetuses, and with asplenia in 2/12 fetuses; and isolated dextrocardia in 1/12 fetuses. Congenital heart defects (CHDs), vascular anomalies, and intestinal malrotations were the most frequent associated malformations. In 5/12 cases, the US and MRI diagnoses were concordant. Compared to US, in 7/12 cases, additional MRI findings specified the situs anomaly, but CHDs were only partially visualized in six cases. Conclusions: Our initial MRI results demonstrate the visualization of situs anomalies and associated malformations in utero, which may provide important information for perinatal management. Using a standard protocol, MRI may identify additional findings, compared to US, which confirm and specify the situs anomaly, but, with limited MRI visualization of fetal CHDs. [Copyright &y& Elsevier]

Two cases of living-donor liver transplantation performed in patients with situs inversus are reported. The authors discuss the operative management for a situs inversus recipient to undergo liver transplantation. [ABSTRACT FROM AUTHOR]