A complete case of Cantrell's Pentalogy with isolated left ventricular diverticulum

The congenital left ventricular diverticulum is a rare cardiac malformation, and it may associate with Cantrell’s Pentalogy with other cardiac defects. However, isolated ventricular diverticulum without any other cardiac defect in complete Cantrell’s syndrome is very rare. We describe a 6-year-old male patient with a complete Cantrell’s syndrome with isolated left ventricular diverticulum.

Experience in the Treatment of Pentalogy of Cantrell with Artificial Materials in a Single Clinical Center

Objective To summarize experience in the treatment of pentalogy of Cantrell (POC) in our hospital and explore the effect of artificial materials in repairing sternal defects. Materials and Methods A retrospective analysis was performed on treatment of five children with POC treated by using the Gore-Tex patch and titanium mesh in the Department of Cardio-Thoracic Surgery, Children's Hospital of Chongqing Medical University, from January 2010 to January 2019. Results The concurrent conditions included double outlet of right ventricle (n = 2), ventricular septal defect (VSD) and atrial septal defect (ASD) (n = 1), VSD and ASD and patent ductus arteriosus (n = 1), and VSD and left ventricular diverticulum (n = 1) in five cases with POC. Color Doppler echocardiography and computed tomography (CT) + three-dimensional (3D) reconstruction of the thorax and abdomen were performed preoperatively. The cardiac malformation was corrected according to color Doppler echocardiography, and a Gore-Tex patch was used to repair the pericardial defect. Titanium mesh was made according to CT 3D reconstruction with a 3D printing mold to repair sternal defects. All patients underwent a one-stage operation, all hearts were eventually repositioned, no deaths occurred after the operation, and follow-up was performed for 6 months to 2 years. The patients recovered well, and the exterior thorax was normal. Conclusion The diagnosis of POC is not difficult. The priority of surgical treatment for POC is to obtain satisfactory corrections of cardiac malformation. The repair of the pericardial defect with the Gore-Tex patch and the sternal defect with the titanium mesh can make the heart return to the mediastinum, reduce the pressure on the heart, reduce the surgical trauma, reduce the difficulty of repairing the sternal defect, and optimally restore the exterior thorax.

The Tietz syndrome associated with cardiac malformation: a case report with literature review

Background Tietz syndrome is a very rare clinical entity characterized by the association of profound bilateral congenital sensorineural deafness and generalized hypopigmentation of skin, eyes, and integuments (snow white appearance). It is an autosomal dominant syndrome due to a mutation in the melanocyte inducing transcription factor (MITF) gene. The association of a heart malformation has never been reported in this syndrome. Case presentation We report two cases of two cousins aged 5 years and 20 months respectively with a history of first degree consanguineous parents. Both girls presented with diffuse hypopigmentation of the skin, blond hair, blue eyes, and bilateral diffuse retinal hypopigmentation at ocular fundus exam. Bilateral profound sensorineural hearing loss was confirmed by auditory brainstem response in both cases. Echocardiography revealed a cardiac malformation such as interventricular communication in the older cousin and interatrial communication in the younger cousin. The family investigation did not reveal a similar case among ancestors. The diagnosis of Tietz syndrome was based on clinical criteria and pedigree. The older cousin underwent a total optical correction and a right unilateral cochlear implantation followed by speech therapy with a satisfactory result after a follow-up of two years. Unfortunately, the little cousin died following a head trauma. Conclusions Tietz syndrome is a rare autosomal dominant genetic disorder, characterized by generalized albinism with bilateral profound hearing loss. It results from a nontruncating mutation in the basic domain of in the MITF gene. Its management must include, in addition to hearing and ophthalmic rehabilitation, the research and treatment of cardiac malformations which may be life-threatening.

Aorto-pulmonary Window, a Rare Congenital Heart Disease: Case Report

Aortopulmonary window (APW) is an uncommon congenital cardiac malformation, accounting for 0.1% of all congenital cardiac diseases. It is a defect between the ascending aorta and the trunk of the pulmonary artery. Such abnormality may occur as an isolated lesion or it can be associated with other cardiac abnormalities in one third to one half of cases. Clinical and hemodynamic presentation of this condition depends on the size of the defect and on the associated lesions. It is usually fatal in infancy or childhood if untreated with the development of irreversible pulmonary hypertension. Once the diagnosis is made, surgery must be performed quickly to avoid irreversible pulmonary vascular disease. We report the case of a 5-month-old infant with APW who was referred to our center by respiratory symptoms and heart murmurs.

Late Presentation of Aortopulmonary Window with Tetralogy of Fallot: Report of a Very Rare Case

Aortopulmonary window (APW) itself is a rare congenital cardiac malformation and its association with Tetralogy of Fallot (TOF) makes it more uncommon. We report a case of APW with TOF who presented at 4-year 10 months of age. As the boy was still in operable state, after thorough preoperative evaluation successful surgical repair was done.

Isolated ventricular inversion with hypoplastic right ventricle and pulmonary stenosis in an adolescent with situs solitus: a rare combination

Isolated ventricular inversion with situs solitus is a severe and rare congenital cardiac malformation characterised by an atrioventricular discordance but with ventriculo-arterial concordance. Here, we present the rare case of an adolescent with isolated ventricular inversion and hypoplasia of the left-sided morphological right ventricle and pulmonary stenosis, a first of its kind to be reported in the literature.

Topsy-Turvy Heart with Aortopulmonary Window and Severe Airway Malacia: Prenatal Diagnosis and Review of the Literature

The topsy-turvy heart is a very rare cardiac malformation that involves a global 90° clockwise rotation of the heart along its long axis. This rotation results in the displacement of the great arteries and severe elongation and stretching of the brachiocephalic arteries and the bronchi. We present an unusual case of topsy-turvy heart diagnosed prenatally with a large aorto-pulmonary window and. This case gives an insight into the morphological details and clinical presentation of this rare malformation and its associated complications. We also present a review of the literature of this rare anomaly showing only 15 live cases that have been published with only three cases diagnosed prenatally.

An Overview of the Trajectory of Brazilian Individuals with 22q11.2 Deletion Syndrome Until Diagnosis.

Background: 22q11.2 Deletion Syndrome (22q11.2DS) is a rare disease that has as an important characteristic the clinical heterogeneity. The diversity of organs, regions, and systems of the body that can be affected requires periodic updating of health professionals so that they can recognize this clinical signs as belonging to 22q11.2DS. Updated health professionals are equally important for the appropriate and timely establishment of clinical management for individuals with a positive diagnosis. In this context, this article aimed to map and analyse the access to health care for individuals with 22q11.2DS until the moment of diagnosis. Results: We analysed clinical data of 111 individuals with 22q11.2DS registered in the Brazilian Database on Craniofacial Anomalies (BDCA) from 2008 to 2020. In this study, individuals were diagnosed with a median age of 9 years (mean = 9.7 years). Before genetic investigation, they accessed 68.75% of the international recommended evaluations available at BDCA. Recurrent 22q11.2DS clinical manifestations as delayed neuropsychomotor development, lip and/or palate defects, cardiac malformation and/or hematological/immunological alteration co-occurred in at least 72.06% of individuals. Cardiac malformation was the only clinical alteration that led to a lower median diagnostic age, corresponding to 6.5 years of age with a cardiac malformation versus 11 years of age without a cardiac malformation (p = 0.0006). Conclusions: In Brazil, 22q11.2 DS is under recognized and early diagnosis and management of affected individuals are still a distant reality. In this sense, the identification followed by the correction of obstacles that do not allow this reality are essential to increase life expectancy and improve the quality of life of these individuals in Brazil