22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of this multisystem condition include congenital anomalies, developmental delay, and an array of early- and later-onset medical and psychiatric disorders. Advances in pediatric care ensure a growing population of adults with 22q11.2DS. Informed by an international panel of multidisciplinary experts and a comprehensive review of the existing literature concerning adults, we present the first set of guidelines focused on managing the neuropsychiatric, endocrine, cardiovascular, reproductive, psychosocial, genetic counseling, and other issues that are the focus of attention in adults with 22q11.2DS. We propose practical strategies for the recognition, evaluation, surveillance, and management of the associated morbidities.

No abstract

No abstract

Patients with Eisenmenger syndrome have a substantial risk of pulmonary artery thrombus formation. Women and patients with lower oxygen saturations are at the highest risk of developing thrombosis. In the context of an increased bleeding tendency in these patients, the role of anticoagulation treatment needs to be determined.

Outcomes of device closure of large and small secundum atrial septal defects (ASDs) as related to rim anatomy with the Amplatzer atrial septal occluder were compared. Rim adequacy (> or = 5mm) of the anterior, inferior, posterior, and superior rims was determined using transesophageal echocardiography. Balloon-stretched defect size defined patients into two groups: group 1, < or = 25 mm (n = 138); group 2, > 25 mm (n = 34). Rim deficiency (n = 62) was more frequent in group 2 compared to group 1 (50% vs. 33%; P = 0.07), especially inferior rim deficiency (35% vs. 2%; P = 0.005). Device deployment was successful in group 1 and group 2 (100% vs. 91%; P = 0.007). Unsuccessful deployment was associated with an ASD of > 25 mm (P = 0.007) and inferior rim deficiency (P = 0.001). At first follow-up (54 +/- 16 days), right ventricular systolic pressure had improved in both groups (P < 0.001). Closure of a large ASD associated with a lack of support in the inferior rim may warrant alternative strategies to position the device successfully.

Respiratory and skeletal muscle weakness is common in young adults with complex CHD and similar to that found in older adults with advanced heart failure from acquired heart disease.

Background-Discrete subaortic stenosis is notable for its unpredictable hemodynamic progression in childhood and high reoperation rate; however, data about adulthood are scarce. Methods and Results-Adult patients who previously underwent surgery for discrete subaortic stenosis were included in this retrospective multicenter cohort study. Mixed-effects and joint models were used to assess the postoperative progression of discrete subaortic stenosis and aortic regurgitation, as well as reoperation. Continuing medical education (CME) credit is available for this article. Go to http://cme.ahajournals.org to take the quiz.

SummaryBackground22q11·2 deletion syndrome (22q11·2DS) is a relatively common yet under-recognized genetic syndrome that may present with endocrine features. We aimed to address the factors that contribute to the high prevalence of hypocalcaemia.MethodsWe investigated hypocalcaemia in a well-characterized sample of 138 adults with 22q11·2DS (65 m, 73 F; mean age 34·2, SD 11·8, years) using laboratory studies and lifelong medical records. Logistic regression modelling was used to identify features associated with lifetime prevalence of hypocalcaemia.ResultsOf the total sample, 111 (80·4%) had a lifetime history of hypocalcaemia. Eleven (84·6%) of 13 subjects with neonatal hypocalcaemia had documented recurrence of hypocalcaemia. Lifetime history of hypocalcaemia was associated with lifetime prevalence of hypoparathyroidism (P < 0·0001) and hypothyroidism (P = 0·04), as statistically independent factors. Hypomagnesaemia was associated with concurrent hypocalcaemic measurements, especially in the presence of concurrent hypoparathyroidism (P = 0·02).ConclusionsThe results suggest that, in addition to the major effect of hypoparathyroidism, hypothyroidism may play a role in hypocalcaemia in 22q11·2DS and that there is a high recurrence rate of neonatal hypocalcaemia. Hypomagnesaemia may contribute to hypocalcaemia by further suppressing parathyroid hormone (PTH). Although further studies are needed, the findings support regular lifelong follow-up of calcium, magnesium, PTH and TSH levels in patients with 22q11·2DS. At any age, hypocalcaemia with hypoparathyroidism and/or hypothyroidism may suggest a diagnosis of 22q11·2DS.