The severe end of the spectrum: Hypoplastic left heart in Potocki‐Lupski syndrome

Abstract

Potocki‐Lupski syndrome (PTLS) is a recently described microduplication syndrome associated with duplication 17p11.2, including the RAI1 gene. Features of PTLS include hypotonia, feeding difficulties, failure to thrive, developmental delay and behavioral abnormalities including autistic spectrum disorder, anxiety, and inattention. Cardiovascular anomalies were not recognized as a feature of duplication 17p11.2 until 2007 when noted in over 50% of a clinically characterized cohort. We report a patient with hypoplastic left heart syndrome whose diagnosis of PTLS was delayed until a genetic evaluation at age 4 years because of severe expressive language impairment. We suggest that array comparative genomic hybridization be performed in infants with severe congenital heart defects. © 2011 Wiley‐Liss, Inc.

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

“…HLHS accounts for 2-3% of all congenital heart defects, and a minority of HLHS cases have been associated with congenital anomaly syndromes, e.g., the Jacobsen, Turner, and Potocki-Lupski syndromes, respectively [45][46][47]. As 13q duplication has been reported to be associated with this manifestation, the findings of HLHS found in Pt 20 may be due to a partial trisomy of 13q [48].…”

Cardiovascular findings in duplication 17p11.2 syndrome

“…Hypoplastic left heart was reported in two duplication 17p11.2 syndrome patients, 6,8 one of whom was evaluated at our institution after cardiac transplantation and was not included in this report because we did not perform his cardiac evaluation. 6 Interestingly, only 6 of the 16 subjects (37.5%) with common duplications had a cardiovascular abnormality, although they all had the same 3.7 Mb genomic duplication ( Figure 2). On the other hand, the individual with the largest duplication (2711) had a normal cardiac evaluation.…”

“…3,5 The clinical features of duplication 17p11.2 syndrome include hypotonia, failure to thrive, developmental delay, intellectual disability, sleep-disordered breathing, and structural cardiovascular abnormalities. 1,2,[6][7][8] The behavioral phenotype of duplication 17p11.2 syndrome includes autistic spectrum disorder, anxiety, and inattention. 9 Although several cases of 17p11.2 duplication were reported before its molecular mechanism was known, cardiovascular disease was not recognized as a feature of duplication 17p11.2 syndrome until individuals were systematically evaluated through a protocol-driven, multidisciplinary clinical study.…”

Advances in Autism Research – The Genomic Basis of ASD

“…The other clinical features present in over half of patients include sleep apnea, abnormal EEG, attention deficit, hypermetropia, and cardiovascular abnormalities [15]. These cardiovascular abnormalities can typically include both structural and conduction defects, such as atrial or ventricular septal defects, bicuspid aortic valve, dilated aortic root, dilation of the pulmonary annulus, patent foramen ovale, or hypoplastic left heart [15,[91][92][93].…”