Results 51 to 60 of about 9,662 (202)
Journal of Cardiothoracic SurgeryCongenital heart disease may present with pectus excavatum. Concomitant and staged repair are described, but the optimal approach is controversial.
Carlo R Bartoli +3 more
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American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Animals, 2023 Pectus excavatum is a deformity of the thorax characterized by ventrodorsal narrowing of the sternum bone and costal cartilages, which can lead to compression and cardiopulmonary alterations in dogs, presenting a high prevalence in brachycephalic breeds.
Keylla Helena Nobre Pacífico Pereira +9 more
doaj +1 more source
Cancer Risk in Marfan Syndrome: A Swedish Population‐Based Cohort Study
International Journal of Cancer, Volume 159, Issue 7, Page 1707-1714, 1 October 2026.The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Ida Nordgren +8 more
wiley +1 more source
Annals of Pediatric Cardiology, 2019 Background: Severe pectus excavatum in children may result in cardiorespiratory functional impairment; therefore, we evaluated cardiopulmonary response to exercise before and after the Nuss procedure.
Bibhuti B Das +2 more
doaj +1 more source
Clinical Genetics, Volume 110, Issue 4, Page 502-507, October 2026.This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska +3 more
wiley +1 more source
Magnetic resonance imaging in the evaluation of pectus excavatum [PDF]
Digital DiagnosticsBACKGROUND: Magnetic resonance imaging is more often used to confirm the presence of pectus excavatum and assess compression changes in the heart at this level.
Gulishe S. Muzafarova +4 more
doaj +1 more source
A 12‐Year‐Old Child With a Sunken Sternum and Progressive Muscle Weakness: A Case Report
Clinical Case Reports, Volume 14, Issue 9, September 2026.ABSTRACT A 12‐year‐old girl with facioscapulohumeral muscular dystrophy and severe pectus excavatum presented with progressive dyspnea and restrictive ventilatory impairment. She underwent successful Nuss repair with uneventful recovery. At 6‐month follow‐up, chest contour and pulmonary function improved, suggesting that surgical correction is feasible
Siman Chen, Chenghao Chen, Qi Zeng
wiley +1 more source
Minimally Invasive Pectus Excavatum Correction and Endoscopic Port Access Mitral Valve Surgery
Rambam Maimonides Medical JournalThis case study describes the successful short-term outcome of staged minimally invasive pectus excavatum correction and endoscopic mitral valve repair in a patient with severe mitral valve regurgitation and pectus excavatum.
Johan van der Merwe +3 more
doaj +1 more source
Diagnostics, 2023 Background: The severity of pectus excavatum is classified by the Haller Index (HI) and/or Correction Index (CI). These indices measure only the depth of the defect and, therefore, impede a precise estimation of the actual cardiopulmonary impairment.
Tariq Abu-Tair +5 more
doaj +1 more source