Mohammed Omar Galal

Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family.

Geleophysic dysplasia is an extremely rare acromelic skeletal dysplasia resembling lysosomal storage disease. It is characterised by characteristic facial phenotype, short stature, micromelia, joint contracture, and early cardiac valvular involvement. It has been described worldwide in <40 patients. Herein, we describe the cardiac features in three Saudi sisters with proved autosomal recessive geleophysic dysplasia who showed different levels of severity of their cardiac involvement.

Alpha blocker and angiotensin-converting enzyme inhibitor in the management of severe pulmonary valve stenosis: from bench to bedside.

INTRODUCTION Neonates with severe pulmonary valve stenosis tend to remain oxygen dependent, despite resolution of the transpulmonary gradient. Alpha 2 blockers – phentolamine – and angiotensin-converting enzyme inhibitors – captopril – were reported to improve oxygen saturation. OBJECTIVE To describe the role of phentolamine and captopril in the treatment of these patients. METHODS In a retrospective cohort study, 28 neonates with severe pulmonary valve stenosis underwent balloon valvuloplasty. Among them, 20 remained oxygen or prostaglandin dependent after intervention, and were treated with phentolamine or captopril. Oxygen saturation was monitored before and after intervention and following treatment with these medications. Mean duration of hospitalisation was recorded. RESULTS Mean age and weight were 25.2 days and 3.1 kg, respectively. Before balloon dilation, 18/20 (90%) neonates were on prostaglandin, whereas after the procedure only 6/18 patients required it. All 20 patients required oxygen after the procedure, and nine patients (45%) were started on phentolamine. Among them, one patient with severe infundibular stenosis did not respond favourably, and 11 patients (55%) were started on captopril. After starting phentolamine or captopril treatment, prostaglandin could be discontinued after a mean time of 15.86 hours. Within <2 days, there was an increase in mean oxygen saturation from 76.6 to 93.0%. CONCLUSION Phentolamine and captopril seem to have therapeutic roles in neonates with severe pulmonary valve stenosis who remain oxygen dependent after balloon dilation. Both drugs led to vasodilation of the pulmonary and systemic vascularisation and facilitated inflow to the right ventricle. Right-to-left shunt across a patent foramen ovale or atrial septal defect decreased and saturation improved, leading to a significant reduction in the length of hospitalisation.

Intracoronary thrombus in an infant with Kawasaki disease and giant coronary aneurysm.

A previously healthy 5-month-old girl presented to ouremergency department with history of fever for 2 weeks,skin rash, red and cracked lips and bilateral redness of theeyes appeared 4 days after fever started. On physicalexamination, the general condition was stable includinggood peripheral perfusion. There was no lymphadenopathy.Chest and abdominal examinations were unremarkable.Electrocardiography, apart from mild sinus tachycardia(HR 110 bpm), was normal with no sign of myocardialischaemia or hypertrophy. Chest X-ray showed cardiomeg-aly. Her blood investigation results were as follows: WBC16.2 9 100/lL (neutrophils 36.7%), normal haemoglobinand platelets 1356 9 100/lL. The kidney function and liverfunction tests were normal. Troponin-T 27 lg/L (lab nor-mal value 14 lg/L) and CKMB 42 lg/L (lab normal value25 lg/L). The diagnosis of Kawasaki disease (KD) wasestablished according to the combination of the clinicalpicture and blood investigations. Echocardiogram wasperformed and showed severe dilatation of left anteriordescending coronary artery with giant fusiform aneurysm(Fig. 1) and intracoronary thrombus (Fig. 2). Additionally,normal myocardial function and moderate pericardialeffusion with no sign of cardiac tamponade. Despite thelate presentation, immunoglobulin infusion was startedcombined with heparin, warfarin and low-dose aspirin. Itwas planned after two days to discontinue heparin. Anelective cardiac computerized tomography (CT) with con-trast injection was performed and shows giant aneurysmaldilatation of right coronary artery (RCA; Fig. 3). A repeatedechocardiography, directed on the RCA, confirms the CTfinding (Fig. 4). The critical evaluation of the initial echo-cardiography examination revealed that the RCA aneurysmwas there from the start but was missed as it is very adjacentto and almost as large as right atrium.Kawasaki disease is also known as mucocutaneouslymph node syndrome. Its diagnosis is usually done throughcombination of certain clinical criteria. One of the mostserious complications of KD is dilatation and fatal aneu-rysms or rupture of coronary arteries in untreated patients.The initial echocardiographic study always evaluates theexistence of coronary artery aneurysms. In the presence of aproximal aneurysm, further coronary artery evaluation isusually performed through CT or magnetic resonancetomography combined with contrast injection and/or car-diac catheterization and angiography.Myocardial ischaemia due to thromboembolism is also awell-reported complication. The guidelines for treatment of

Recanalization of arterial duct is feasible, effective and its potential risks are treatable

BACKGROUND Recanalization of arterial duct (AD) is rarely needed. OBJECTIVE The aim of this study is to report our experience regarding the feasibility and effectiveness of arterial duct recanalization in three infants and review the relevant literature. METHODS AND RESULTS We report on three patients with decreased pulmonary blood flow after initial palliation. The first patient had pulmonary atresia (PA) and an intact ventricular septum. He needed recanalization of the AD after pulmonary valve perforation and dilatation. The second patient had PA and ventricular septal defect (VSD). His AD originated from the left subclavian artery. He required AD recanalization after palliation with a central shunt and clipping of the duct. During intervention he developed a thrombus in the stent, which was treated successfully using thrombolytic treatment. The third patient had PA and VSD. The arterial duct originated from the left subclavian artery and was recanalized after spontaneous closure despite prostaglandin infusion. During the procedure the patient had severe desaturation and bradycardia requiring resuscitation fortwo minutes. All infants had successful arterial duct recanalization and stenting. Additionally, they were clinically stable during follow-up. CONCLUSION Arterial duct recanalization and stenting is a feasible and effective procedure in selected cases, and its risks are treatable. Long-term studies are required.

Hypoplastic left heart syndrome, cor triatriatum and partial anomalous pulmonary venous connection: Imaging of a very rare association

A newborn is presented with an association of hypoplastic left heart syndrome, cor triatriatum and partial anomalous pulmonary venous connection. The diagnosis was established with echocardiography and further confirmed with computed tomography. To our knowledge the images of such an association have never been reported before.

Safety and efficacy of transcatheter closure of atrial septal defect type II under transthoracic echocardiographic guidance: A case control study

Background Transcatheter closure of secundum atrial septal defect is routinely performed under general anesthesia and transesophageal echocardiography guidance. If patients have good echo windows, the procedure could be performed under transthoracic echo guidance. Aim of study To evaluate safety and efficacy of the intervention using fluoroscopy and echo guidance. Methods In a case control study design, 180 patients underwent atrial septal defect closure between January 2010 and December 2016. In 32 patients, the intervention was performed under fluoroscopy and transthoracic echo guidance. Our study group consisted of 22 out of 32 patients (<13 years old). For the other 10 patients, we could not find a matching pair. The data of the study group were compared with an age, weight, and height matched group (controls), who underwent the procedure under transesophageal echocardiography guidance. Results The diameter of the atrial septal defect, septal length, and most of the rims were comparable. The superior rim and inferior rims were longer in the study group. The devices chosen for the cases were larger than the control group. Procedure time and fluoroscopy times were shorter in the study group. Success rate was comparable. On follow-up, both groups had almost no or minimal incidence of residual shunt. Conclusion We conclude that transcatheter closure of atrial septal defect under fluoroscopy and transthoracic echo guidance is safe and successful in selected patients who have single central atrial septal defect with adequate septal lengths and adequate septal rims, with high incidence of complete occlusion rate.

Post Melody valve implant in a conduit with regurgitant native outflow tract successful closure by Amplatzer muscular device.

We describe the technique of closure of native right ventricular outflow tract by Amplatzer muscular ventricular septal defect device because of severe regurgitation in a patient who had tetralogy of Fallot repair with conduit at 3 years of age followed by percutaneous Melody valve implant 6 years later.

Pulmonary Valvuloplasty in a Pregnant Woman Using Sole Transthoracic Echo Guidance: Technical Considerations

An 18-year-old pregnant woman with severe pulmonary valve stenosis and exertional dyspnea underwent balloon dilation during pregnancy using sole echocardiographic guidance to protect the baby from radiation. The main technical difficulty encountered was during advancement of the catheter across the right ventricular outflow tract into the pulmonary valve. This was overcome using a wedge balloon catheter over a percutaneous transluminal coronary angioplasty (PTCA) wire. Using echo guidance, the balloon was positioned across the pulmonary valve and inflated. Pulmonary balloon valvuloplasty can be performed safely using sole transthoracic echocardiography guidance without fluoroscopy.

Percutaneous closure of atrial septal defect with situs solitus and dextrocardia.

Percutaneous closure of secundum atrial septal defect associated with situs solitus and dextrocardia has not been reported previously. We describe the technical difficulties encountered during transcatheter closure of a secundum atrial septal defect in a 19-month-old girl with situs solitus and dextrocardia.

Multiple coronary arterial fistulas to left ventricle associated with atrial septal defect.

Received 30 November 2014; revision accepted for publication 27 January 2015. Coronary artery fistulas (CAF) rarely drain to the left ventricle (LV) leading to diastolic overload. We report a three-year-old girl in whom an atrial septal defect (ASD) on echocardiography with left to right shunt (figure 1) and possible CAF were diagnosed. At catheterization, Multiple coronary arterial fi stulas to left ventricle associated with atrial septal defect