A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia.

This case presents a family with multiple individuals diagnosed with congenital heart disease (CHD) secondary to a novel TAK1-binding protein 2 pathogenic variant. This case advocates the use of cardiovascular genetic testing in individuals with CHD as part of a comprehensive approach to managing infants with CHD. (Level of Difficulty: Advanced.).

Aortic coarctation and carotid artery aneurysm in a patient with Hardikar syndrome: Cardiovascular implications for affected individuals.

Hardikar syndrome is a multiple congenital anomaly syndrome first characterized in 1992 by Hardikar et al. to describe two individuals with cholestasis, cleft lip/palate, retinal pigmentation, intestinal abnormalities, and genitourinary anomalies. Between 1992 and 2002, four individuals with Hardikar syndrome were reported in the literature. The fourth individual [Maluf et al. (2002), Transplantation 74:1058-1061; Poley and Proud (2008) Am J Med Genet Part A 146A:2473-2479], who had progressive cholestatic liver disease ultimately requiring liver transplantation, has continued to be followed at our institution. Recently, at the age of 14 years, during an evaluation for refractory hypertension, she was found to have developed coarctation of the aorta that was treated with aortic angioplasty and stenting, dramatically improving her hypertension. Further vascular investigation also revealed a small aneurysm of her carotid artery requiring neurosurgical evaluation and anticoagulant therapy. To our knowledge, these vascular anomalies have not been reported in Hardikar syndrome and the high association of congenital heart disease in the individuals with Hardikar syndrome has not been further addressed. Herein, we discuss this additional clinical information, speculate briefly on possible molecular etiologies, and discuss potential cardiac surveillance recommendations. We hope that broadening the known phenotype of this very rare disorder will further aid clinicians in their management and surveillance for these individuals.

Libman-Sacks endocarditis in pediatric patient with systemic lupus erythematosus.

A 16 year old female patient with systemic lupus erythematosus presented to rheumatology clinic with a new I-II/VI honking-quality mitral regurgitation murmur. The patient was initially evaluated by transthoracic echocardiogram that revealed mitral valve regurgitation and a large band of tissue under the mitral valve leaflets. Blood cultures were obtained and were negative. Transesophageal echocardiogram provided better visualization of the lesion and showed the band of tissue involving most of the chordae of the posterior mitral leaflet. A diagnosis of Libman-Sacks endocarditis was made given the aseptic nature of the lesions and the patient's underlying lupus. Aggressive management of the lupus showed reduction of the mitral regurgitation and the size of the lesion. Libman-Sacks endocarditis is best evaluated by transesophageal echocardiogram.

Effect of prostaglandin duration on outcomes in transposition of the great arteries with intact ventricular septum.

OBJECTIVE: To study the effects of duration of preoperative prostaglandin E1 (PGE) exposure on perioperative outcomes of the arterial switch operation in patients with transposition of the great arteries with an intact ventricular septum. DESIGN: Retrospective chart review. SETTING: Pediatric cardiac intensive care unit in a tertiary care children's hospital. PATIENTS: All patients with transposition of the great arteries with an intact ventricular septum from 1995 to 2008. OUTCOME MEASURES: Inotropic score was calculated for all patients in the first 5 postoperative days and maximum inotropic score was recorded. Length of postoperative mechanical ventilation, fluid balance, mechanical ventilation time, as well as intensive care unit and hospital stay were recorded for all patients. RESULTS: Study population included 59 patients, 41 (69%) underwent balloon atrial septostomy. PGE was used in 52 patients, median exposure of 59 hours, range 0 to 272 hours. Longer preoperative PGE exposure was associated with longer preoperative mechanical ventilation (P < .001). There was no association between preoperative PGE duration and cardiopulmonary bypass time, cross-clamp time, or total hospital stay. Patients with longer preoperative PGE exposure had a lower postoperative inotrope score (10 vs. 15 P = .02). CONCLUSION: Greater preoperative PGE exposure was associated with prolonged preoperative mechanical ventilation. Longer PGE exposure was associated with lower postoperative inotrope requirements. Aggressive efforts to avoid or shorten PGE infusion duration may not be warranted in this population.

Utility of computed tomographic angiography in the pre-operative planning for initial and repeat congenital cardiovascular surgery.

OBJECTIVE: To investigate the utility of computed tomographic angiography as an adjunctive imaging modality before congenital cardiac surgery. DESIGN: We evaluated 33 patients who underwent a pre-operative computed tomographic angiogram. They were classified according to the anatomic site of repair. Post-operatively, the surgeon completed a questionnaire assessing the utility of the study. RESULTS: Computed tomographic angiography was found to be either "essential" or "very useful" for pre-operative planning in 94% of the patients. Specifically, the scan was consistently useful for procedures involving the aorta (14/15, 93%) or the pulmonary veins (4/4, 100%) and obviated pre-operative catheterisations in 14 patients (42%). Furthermore, when compared with other diagnostic groups, computed tomographic angiography determined the need for peripheral cannulation in patients undergoing re-operations (6/7; 86%, p = 0.02). CONCLUSIONS: Computed tomographic angiography was found to be useful in the pre-operative planning of virtually all patients undergoing repair of congenital cardiac malformations, regardless of diagnosis. Specifically, the studies were essential in select populations, such aortic arch or pulmonary vein repairs, and helped to determine cannulation sites for repeat operations while significantly reducing the need for invasive imaging.

A tangled affair: pacemaker malfunction and syncope in a child due to Twiddler's syndrome.

Manipulation of an implanted pacemaker by the patient is a rare cause of malfunction, especially in children. We describe a child who inadvertently rotated his pacemaker under the skin, knotting the leads and dislodging them from the heart, leading to syncope and heart block. Our experience with this case underscores the need to consider this diagnosis in children as well as in adults if this problem is to be averted.

Transcatheter device occlusion of multiple large pulmonary arteriovenous malformations in two symptomatic pediatric patients.

Pulmonary arteriovenous malformations (AVMs) large enough to lead to clinically significant cyanosis are rare in the pediatric population. To date, there has been some experience with transcatheter embolization of pulmonary AVMs in children, primarily with coils or balloons. Herein, we report 2 cases of children who were progressively symptomatic and had physical manifestations of hypoxemia arising from large pulmonary AVMs. Both improved after successful catheter-based placement of multiple occlusion devices (Amplatzer vascular plugs) in the pulmonary arterial segments feeding the AVMs produced a rapid, sustained increase in oxygen saturations, and a subsequent amelioration of their symptoms. This represents the first case series of multiple Amplatzer vascular plugs placed into numerous arteriovenous formations, exclusively in children. This approach represents an additional nonsurgical option for children or adults with symptomatic pulmonary AVMs.