LAUSR

Introduction In this study, we evaluated patients with 1p36 deletion syndrome to delineate cardiovascular involvement. Methods We approached patients from the 1p36 Deletion Support & Awareness National conference in 2014 to participate in this cross-sectional study. All patients had been clinically diagnosed and confirmed by genetic analysis. Evaluation included a complete physical examination, echocardiogram, and electrocardiogram. Seven of these subjects were followed up longitudinally at our institution. Results Twenty-four subjects with 1p36 deletion syndrome met criteria to participate voluntarily in this study. Cardiovascular anomalies including functional, structural, electrocardiographic abnormalities, or a combination of them were identified in a total of 14/24 (58.3%) subjects. The most frequent abnormality was left ventricular hypertrabeculation/left ventricular noncompaction cardiomyopathy in 10/24 patients. A history of congenital heart disease (CHD) requiring some type of intervention for repair was found in 5/24 (with or without LVHT). In addition, prolongation of the QTc interval was found in 3/24 patients. Conclusion This study found that 1p36 deletion syndrome has a strong association with left ventricular hypertrabeculation and LVNC. Congenital heart disease and electrocardiographic abnormalities were also present in these individuals. Based on this study, we recommend that individuals with 1p36 deletion syndrome should be evaluated by a Pediatric Cardiologist at the time of diagnosis and subsequent monitoring should also be established for surveillance of possible progression of disease including myocardial dysfunction and QTc abnormalities. Further longitudinal analysis of these manifestations would likely characterize the progression of these abnormalities, so that specific guidelines can be established for cardiovascular management.