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Background: Cardiac resynchronization therapy is an important validated technique for patients with dyssynchrony and heart failure. However, the response rate to conventional resynchronization is approximately 50%; therefore, new techniques and schedules have emerged. This study aimed to evaluate the different clinical and echocardiographic variables of conventional versus multipoint cardiac resynchronization therapy., Research Design and Method: A systematic review was conducted of randomized clinical trials in the PubMed, Cochrane, and Embase databases on cardiac resynchronization intervention with multipoint stimulation clinical and echocardiographic outcomes evaluated before and 3 months after the intervention., Results: Three studies (N = 139) were ultimately selected, and 100% of patients had a New York Heart Association functional class of II-IV, QRS > 120 ms, and a left ventricular ejection fraction < 35%. Significantly greater improvement was observed in the functional class of patients who underwent multipoint versus conventional therapy. The final systolic volume and ejection fraction improved in the multipoint group, but the difference was not statistically significant., Conclusions: The literature lacks sufficient randomized controlled studies to enable conclusions regarding cardiac resynchronization therapy responses using different strategies. Moreover, the improvement in functional class in the multipoint pacing group involved few patients and had slight statistical relevance.

We report the case of a child from Central Brazil with global developmental delay (GDD), syndromic features, and absence of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, with a rearrangement at Xq28 harboring the DKC1 gene. GTC-banding revealed a male karyotype (46,XY) with no visible numerical or structural alterations. Chromosomal microarray analysis (CMA) showed a 0.36-Mb gain at Xq28 of maternal origin, encompassing 22 genes, including DKC1 . Rearrangements and mutations involving this gene have been associated with dyskeratosis congenita, X-linked (OMIM 305000) and Hoyeraal-Hreidarsson syndrome. CMA was a powerful and efficient approach to identify a gain at Xq28 harboring the DKC1 gene in our patient with GDD syndromic features and no cutaneous alterations, suggesting that this variant is associated with the Hoyeraal-Hreidarsson syndrome., Competing Interests: The authors have no conflicts of interest to declare., (Copyright © 2019 by S. Karger AG, Basel.)