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“Cases of SCMR” is a case series on the SCMR website (https://www.scmr.org) for the purpose of education. The cases reflect the clinical presentation, and the use of cardiovascular magnetic resonance (CMR) in the diagnosis and management of cardiovascular disease. The 2022 digital collection of cases are presented in this manuscript.

Background: ATP6V1B2 gene mutation is associated with Zimmermann-Laband syndrome 2 (ZLS2), which is a rare developmental disorder characterized by nail hypoplasia and hereditary deafness. Case Presentation: We report a new phenotypic mutation of ATP6V1B2 associated with ZLS 2. The patient has atresia of the left pulmonary artery (LPA) and features of hearing loss and nail hypoplasia. The other interesting part is that the child had two types of mutations inherited from father and mother. He is carrier for GJB2 mutation (inherited from father) and diseased with ATP6V1B2 mutation (inherited from mother). Conclusion: The association of ZLS features with absent LPA was not reported previously in the literature. This finding will add new information to the database of previously reported ATP6V1B2 rare mutations. [JBCGenetics 2021; 4(2.000): 122-125]

Ventricular septal defect (VSD) is a life-threatening complication of transmural myocardial infarction. Urgent surgical repair and concomitant revascularization are the standard of care. Percutaneous catheter- based closure techniques have been reserved for patients with a high-risk surgery or a failed surgical procedure with residual shunting. This case report demonstrates the successful transcatheter closure of residual VSD using the Amplatzer muscular VSD device (Amplatzer, Minnesota, USA) after surgical patch dehiscence for postinfarction VSD and 3-and-a-half years' post-intervention follow-up.

Background: Central line insertion is a routine procedure in medical practice. Dislodgement of lines into the vascular system is a rare complication. We noticed that paediatric health care providers (PHCP) contact the cardiac or general paediatric surgeon for extraction of dislodged lines more frequently than using the less invasive percutaneous approach. Aim: To study the referral preference of PHCP for patient with embolised intravascular foreign bodies. Methods: A questionnaire with three questions was distributed to PHCP of all paediatric subspecialties, including surgery, in two tertiary care centres. The questions were about the total number of patients seen with central line, experience with complications, and preferred specialty for removal of dislodged central lines. Results: The questionnaire was distributed to 128 professionals. The response rate was 79% (n=101). Incomplete answers (n=14) were excluded. The grades of responders were senior consultants 18%, junior consultants 38%, and residents 43%. Thirty nine percent of care providers experienced dislodgement or fragmentation of central lines. The majority (82%) prefer to refer the patients for surgical removal. Conclusions: Most PHCP in the selected hospitals prefer to refer patients with embolised foreign bodies in the vascular system for surgical removal. The local health policy should be updated for the use of the alternative percutaneous approach.

Neonates with critical pulmonary valve stenosis (PVS) tend to remain oxygen dependentpost successful balloon valvuloplasty. Phentolamine and captopril were observed by us to improve oxygen saturation. Objective: Describe the role of phentolamine and captopril in the treatment of these category of patients. Methods: In a retrospective cohort study, 28 neonates with critical PVS underwent balloon valvuloplasty. Twenty remained oxygen or/prostaglandin (PGE)-dependent post-interventionand were treated with phentolamine or captopril accordingly. Oxygen saturation was monitored pre and post intervention and following treatment. Results: Mean age and weight was 25.2 days and 3.1 kg. Before balloon dilation 18/20 (90%) neonates were on prostaglandin while after the procedure only 6/18 patients required it. A total of 20 patients required oxygen after intervention. Nine patients (45%) werestarted on phentolamine. One with severe infundibular stenosis did not respondfavorably. Eleven patients (55%) were started directly on captopril. After introducing phentolamine or captopril, PGE could be discontinued after a mean time of 15.9 h and mean oxygen saturation increased from 76.7% to 93.0%. Conclusion: Phentolamine and/or Captopril have a therapeutic role in neonates with critical PVS who remain oxygen dependent after balloon dilation. Both medicationslead to vasodilatation of pulmonary and systemic vascularity. They facilitate inflowto the right ventricle. Right to left shunt across a PFO or/ ASD minimizesand saturation improves leading to a significantreduction in length of hospitalization.

Neurocutaneous disorders are characterized by skin lesions (port wine stain, hypopigmented patches) associated with intracranial features (ipsilateral leptomeningeal angiomas, intracranial calcifications and subsequent seizures). Some of these patients will also have opthalmological findings.These disorders are occasionally accompanied by congenital heart disease. Example: PHACE syndrome which is associated with aortic coarctation. On the contrary, Sturge–Weber syndrome, apart from one single case report, is usually not described with congenital heart disease. In the mentioned case report, 13 year old female had along with this syndrome, pulmonary atresia with ventricular septal defect. As the author of this case report questioned whether this might be a new association, we would like to report our patient. This is a 14 months old boy with pulmonary atresia/intact ventricular septum along with intracranial calcification, seizures along with strabismus and tunnel vision. Clinical findings were similar to Sturge–Weber syndrome, though cutaneous features were not present. Brain CT angio with contrast was diagnostic for Sturge–Weber and showed calcifications as well as left parietal hemangioma. As far as we know, this specific association has never been reported before and might be a new constellation as suggested by Huseyin Tan et al. (2003).