Staged approach for the management of atrial septal defect in the presence of a small left ventricle and suprasystemic pulmonary pressure

A 29-year-old woman presented with a symptomatic large atrial septal defect, a small left ventricle with a modest left atrium, mild to moderate nonrheumatic mitral valve incompetence, an apex-forming very large right ventricle and suprasystemic pulmonary artery pressure. Following one year of preprocedural drug treatment to lower pulmonary hypertension, she underwent percutaneous closure of the atrial septal defect with a customized fenestrated device that enabled gradual adaptation to the occlusion of the interatrial communication. This special case demonstrates the benefits of using a fenestrated occluder device in patients with pulmonary hypertension and components of left ventricular diastolic dysfunction, which is considered to be high risk and not amenable to therapeutic intervention. is a safe and effective alternative to surgery (1). Complete occlusion of the defect is generally the desired procedural outcome. However, there are clinical and morphological circumstances in which acute complete occlusion may worsen hemodynamics because this atrial communication serves as a 'pop-off' valve (2). Such situations have been previously described in the literature, and include children and adults with pulmonary arterial hypertension as well as closure of an ASD in elderly patients (3). In these settings, the use of a fenestrated occluder device was demonstrated to be beneficial (3). We present a case involving a young woman with an interesting cardiac morphology of a small left ventricle and suprasystemic pulmonary artery pressure. A staged approach, comprised of medical therapy followed by fenestrated device implantation, enabled gradual occlusion of the interatrial communication, leading to clinical and hemodynamic improvement. CASe pReSenTATion A previously healthy 29-year-old woman, who was diagnosed with an ASD when she was 14 years of age, became breathless on minor physical activity during pregnancy and remained decapacitated six months after spontaneous vaginal delivery of a healthy baby. She was referred to the authors as a tourist after several well-known cardiac and cardiothoracic services abroad elected not to intervene because of her unfavourable condition. On echocardiography, her heart morphology revealed a very small left ventricle (LV) -left ventricular end diastolic diameter of only 26 mm ( With regard to the possible etiology of increased PAp, there were no clinical or laboratory features of pulmonary embolism or a systemic illness such as Sjögren syndrome or lupus erythematosus, and the thrombophilia workup was negative. The patient was started on a combined drug therapy of bosentan 125 mg twice/day, sildenanfil 20 mg three times/day, bisoprolol 2.5 mg/day and furosemide 20 mg/day. The addition of bosentan aimed to decrease pulmonary resistance, thus decreasing the right-to-left shunt caused by the tricuspid valve jet through the ASD. Marked clinical and symptomatic improvements were documented soon thereafter and she returned home. Being a tourist, the patient could return for a follow-up visit only one year after the initial evaluation. Following one year of treatment, her O 2 saturation on room air increased from 88% to 90% to 98%, and her subjective limited walking capability improved. Doppler interrogation of tricuspid valve regurgitation revealed a pressure gradient of 60 mmHg. After informed consent was obtained, a hemodynamic study was performed in the catheterization laboratory. The measured PAp was 78/28 mmHg (mean 44 mmHg); the pulmonary capillary wedge pressure was 12/7 mmHg (mean 10 mmHg); and the Qp:Qs ratio was 3:1. The interatrial septum measured 50 mm. The ASD stretched diameter was 24 mm, with a small inferior fenestration revealed by transesophageal echocardiography. Although the LV was small, its systolic function was good. There was a large, apex-forming RV with good function. A sizing balloon was inflated through the ASD, resulting in an increase in mean pulmonary capillary wedge pressure from 10 mmHg to 12 mmHg

Cardiac Function in Long-Term Survivors of Childhood Lymphoma

Objectives. We studied long-term effects of therapy for childhood lymphoma on cardiac function. Design and patients. We prospectively evaluated 45 survivors of childhood lymphoma, using clinical parameters, electrocardiography and echocardiography. Further comparisons were made between lymphoma subgroups and between males and females. Results. Mean age at diagnosis was 9.1 years. Mean followup duration was 10.9 years. The NYHA functional class was I in 43 patients and II in 2 patients. A prolonged QTc interval (>0.44 msec) was found in 8 patients. Left ventricular (LV) systolic function and compliance were normal (LV shortening fraction 40 ± 5.6%; cardiac index 2.84 ± 1.13 L/min/m(2); E/A wave ratio 2.5 ± 1.3; mean ± S.D.), LV mass was normal (97 ± 40 grams/m(2), mean ± S.D.). Mitral regurgitation was observed in 7/45 patients (16%). Asymptomatic pericardial effusions were found in 3/45 (7%) patients. Conclusions. Long-term follow-up shows that most parameters of cardiac function are normal in survivors of childhood lymphoma. This is likely due to relatively low doses of anthracyclines in modern protocol modalities. Abnormalities in mitral valve flow, QTc prolongation and in a small proportion of survivors, and functional capacity necessitate long-term cardiac follow-up of these patients

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

Genetic causes for autosomal recessive forms of dilated cardiomyopathy (DCM) are only rarely identified, although they are thought to contribute considerably to sudden cardiac death and heart failure, especially in young children. Here, we describe 11 young patients (5–13 years) with a predominant presentation of dilated cardiomyopathy (DCM). Metabolic investigations showed deficient protein N-glycosylation, leading to a diagnosis of Congenital Disorders of Glycosylation (CDG). Homozygosity mapping in the consanguineous families showed a locus with two known genes in the N-glycosylation pathway. In all individuals, pathogenic mutations were identified in DOLK, encoding the dolichol kinase responsible for formation of dolichol-phosphate. Enzyme analysis in patients' fibroblasts confirmed a dolichol kinase deficiency in all families. In comparison with the generally multisystem presentation in CDG, the nonsyndromic DCM in several individuals was remarkable. Investigation of other dolichol-phosphate dependent glycosylation pathways in biopsied heart tissue indicated reduced O-mannosylation of alpha-dystroglycan with concomitant functional loss of its laminin-binding capacity, which has been linked to DCM. We thus identified a combined deficiency of protein N-glycosylation and alpha-dystroglycan O-mannosylation in patients with nonsyndromic DCM due to autosomal recessive DOLK mutations

Transcatheter closure of ruptured right-coronary aortic sinus fistula to right ventricle

A 22-year-old man was referred for evaluation of exertional fatigue. On examination, there were no overt signs of congestive heart failure. Transthoracic and transesophageal echocardiography revealed rupture of the right coronary aortic sinus of Valsalva into the right ventricle. It was successfully closed with a 12 X 10 Amplatzer duct occluder