Fadel Al Fadley

Severe tortuosity and stenosis of the systemic, pulmonary and coronary vessels in 12 patients with similar phenotypic features: a new syndrome?

We describe what is, to the best of our knowledge, a previously unreported association in patients with similar facial features, skin and joint laxity, of lengthening and tortuosity of systemic, pulmonary and coronary vessels. We evaluated 12 patients with similar phenotypes, from eight different families. Detailed echocardiographic and angiographic evaluations were performed in all, and biopsies of the skin in seven. All patients have elongated facies, prominent ears, micrognathia and laxity of their joints. Angiographic pictures showed a varying degree of lengthening and tortuosity of systemic, pulmonary, and coronary arteries. Pulsatile carotid arteries formed cervical masses in 2 patients, and three had severe renal arterial stenoses. All showed varying degrees of branch and peripheral pulmonary arterial stenosis, necessitating placement of stents in six. Biopsy of the skin proved normal in all seven patients studied, thus excluding cutis laxa, Ehlers-Danlos and Marfan syndromes. The constellation of abnormalities suggests a genetic syndrome of connective tissue etiology. Further genetic studies, and gene mapping, are underway.

Regulation of sympathetic activity in children with various congenital heart diseases.

ABSTRACT: We studied the α and β-adrenoceptor activity and catecholamine and cAMP levels in 112 children and infants admitted to the hospital for diagnostic or interventional catheterization of tetralogy of Fallot, ventricular septal defects with or without hypertension, pulmonary stenosis, coarctation of the aorta, and various complex cyanotic congenital cardiac diseases and compared them with 14 children undergoing transcatheter occlusion of patent ductus arteriosus with insignificant left-to-right-shunts. The mean total platelet α-adrenoceptor density of the study population was elevated by 73%. Both the increases in acyanotic (p < 0.05) and cyanotic (p < 0.005) patients as well as the difference between the two groups (p < 0.01) were significant. Based on the congenital disease classification, the elevation in receptor density was also significant in all groups of patients, except coarctation of the aorta. On the other hand, the mean lymphocyte β-adrenoceptor density was attenuated by 27%, showing significant difference between the acyanotic and the patent ductus arteriosus groups, but none between acyanotic and cyanotic or cyanotic and the patent ductus arteriosus groups. Among the congenital groups, only the left-to-right shunts and the pulmonary stenosis group showed significant (p < 0.05) decrease in β-adrenoceptor density, whereas the affinity of all the groups toward [125I]iodocyanopindolol was hardly influenced. The plasma levels of all three catecholamines, norepinephrine, epinephrine, and dopamine, were elevated, but cAMP remained unchanged. It seems that the sympathetic nervous system responds to changes triggered by some congenital heart diseases by stimulating α-adrenoceptors, which may be further increased by cyanosis and an attenuation of β-adrenoceptors associated with an increase in plasma catecholamine levels.

Hoarseness after pulmonary arterial stenting and occlusion of the arterial duct.

We report a 12-year-old girl who had multiple congenital cardiac lesions, specifically an arterial duct, left pulmonary arterial stenosis, an atrial septal defect in the oval fossa, and mild Ebsteins malformation of the tricuspid valve. Therapeutic transcatheter intervention was performed to stent the left pulmonary artery, occlude the arterial duct with a coil, and place a device to close the atrial septal defect. Subsequent to the catheterization, she complained of hoarseness, which was shown to be due to entrapment of the left recurrent laryngeal nerve between the coil used to close the arterial duct and the stent placed in the left pulmonary artery. Laryngoscopy confirmed paralysis of the recurrent laryngeal nerve.

Influence of Associated Defects and Type of Surgery in Neonatal Aortic Coarctation

We reviewed our 12-year experience of surgical treatment for aortic coarctation in 86 neonates. Twenty-three patients had simple coarctation, 38 had an associated large ventricular septal defect, and 25 had complex intracardiac defects. The surgical techniques included subclavian flap angioplasty in 54 (63%), combined resection with end-to-end anastomosis augmented by a subclavian flap in 22 (26%), resection with extended end-to-end anastomosis in 7 (8%), and patch aortoplasty in 3 (3%). Five patients required additional transverse aortic arch augmentation. Hospital mortality was 14% (12/86) and was not related to the type of repair but associated pathology increased the operative risk. Late mortality was 11% (8/74) within one year of repair. Recoarctation developed in 5 patients (7%) within one year. No recoarctation was observed in the group repaired by end-to-end anastomosis augmented by a subclavian flap (p = 0.04).

A rare case of giant congenital left atrial appendage aneurysm in a 4-month-old child.

Aneurysm of the left atrial appendage is a rare pathological condition, especially during infancy. We describe the case of a 4-month-old child with a giant congenital aneurysm of the left atrial appendage.

The role of balloon dilation of native aortic coarctation in neonates, infants and children

In 38 children with aortic coarctation between the age of three weeks and 16 years, 44 balloon dilation procedures were attempted. At initial catheterization (n=38), the mean gradient dropped from 49.6±21.2 mm Hg prior to dilation, to 15.3±15.8 mm Hg after the procedure (p>0.05). Twenty-six patients were recatheterized 3–24 months after the initial procedure. The mean gradient remained low at 12.7±15.2 mm Hg (range 0–64). Six of the 26 (23%) patients required a second dilation because of significant recoarctation. This proved successful in four, but in two patients, the second dilation failed, and they were referred for elective surgery. Thus, good overall results were obtained in 24 of the 26 (92.3%) patients undergoing reinvestigation following balloon dilation. Complications included requirements for blood transfusion in 9/44 (20%), chest pain during balloon inflation in 3/44 (6.8%), rupture of the balloon in 3/44 (6.8%), and femoral arterial thrombectomy in 3/44 (6.8%). At a mean clinical follow-up of 21 months, 21% of the patients had a weaker femoral pulse on the side used for balloon dilation, while 21% had mild hypertension measured in the arms despite the absence of a significant gradient. One patient (2.6%) developed an aortic aneurysm as a complication of the procedure. We conclude that balloon dilation is a safe and effective procedure in the majority of the patients with native aortic coarctation.