Anwar Baban1, Nicoletta Cantarutti2, Rachele Adorisio2, Roberta Lombardi3, Giulio Calcagni2, Eva Piano Mortari4, Bruno Dallapiccola5, Bruno Marino6, Fiore Salvatore Iorio2, Rita Carsetti4, Maria Cristina Digilio5, Salvatore Giannico2, Fabrizio Drago2, Adriano Carotti2. 1. Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children Hospital and Research Institute, Rome, Italy. Electronic address: anwar.baban@opbg.net. 2. Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children Hospital and Research Institute, Rome, Italy. 3. Department of Pediatric Radiology, Bambino Gesù Children Hospital and Research Institute, Rome, Italy. 4. B Cell Physiopathology Unit, Immunology Research Area, Bambino Gesù Children Hospital and Research Institute, Rome, Italy. 5. Department of Medical Genetics and Rare Diseases, Bambino Gesù Children Hospital and Research Institute, Rome, Italy. 6. Department of Pediatrics, Pediatric Cardiology, Sapienza University, Rome, Italy.
Abstract
BACKGROUND: Heterotaxy syndrome (HS) is a group of congenital disorders characterized by abnormal arrangement of thoraco-abdominal organs across the left-right axis of the body, classified as right (RAI) and left atrial isomerism (LAI)·We investigated the long-term survival and phenotypic spectrum in our HS cohort. Results are compared to literature data. METHODS: This is a single centre, observational, both retro and prospective study. Cardiac features, surgical management and abdominal ultrasound (US) of all HS patients were reviewed or investigated if missing. We evaluated all anatomical data and their clinical impact on survival, arrhythmias, infections, and heart transplant (HT). RESULTS: 136 patients were classified as RAI (81) and LAI (55). Long-term survival and freedom from HT reached 69.8% and 87.8% at 40 years in RAI and LAI, respectively. Multivariate analysis showed that LAI is an independent predictor for pacemaker implantation (p = 0.019). Splenic status varied in both groups: in RAI, abdominal US showed asplenia, polysplenia and normal spleen in 48%, 4% and 32% of patients, respectively, whereas in LAI polysplenia, asplenia and normal spleen occurred in 64%, 4% and 16% of cases, respectively. CONCLUSIONS: Mortality was significantly lower (9%) compared to literature (50%). Although patients with RAI experienced a higher mortality, no independent predictors were found. We demonstrated that the obsolete cardiac definition of "asplenia" and "polysplenia" instead of RAI and LAI is misleading, because of the high variability of the splenic phenotype among patients of both groups.
BACKGROUND:Heterotaxy syndrome (HS) is a group of congenital disorders characterized by abnormal arrangement of thoraco-abdominal organs across the left-right axis of the body, classified as right (RAI) and left atrial isomerism (LAI)·We investigated the long-term survival and phenotypic spectrum in our HS cohort. Results are compared to literature data. METHODS: This is a single centre, observational, both retro and prospective study. Cardiac features, surgical management and abdominal ultrasound (US) of all HSpatients were reviewed or investigated if missing. We evaluated all anatomical data and their clinical impact on survival, arrhythmias, infections, and heart transplant (HT). RESULTS: 136 patients were classified as RAI (81) and LAI (55). Long-term survival and freedom from HT reached 69.8% and 87.8% at 40 years in RAI and LAI, respectively. Multivariate analysis showed that LAI is an independent predictor for pacemaker implantation (p = 0.019). Splenic status varied in both groups: in RAI, abdominal US showed asplenia, polysplenia and normal spleen in 48%, 4% and 32% of patients, respectively, whereas in LAI polysplenia, asplenia and normal spleen occurred in 64%, 4% and 16% of cases, respectively. CONCLUSIONS: Mortality was significantly lower (9%) compared to literature (50%). Although patients with RAI experienced a higher mortality, no independent predictors were found. We demonstrated that the obsolete cardiac definition of "asplenia" and "polysplenia" instead of RAI and LAI is misleading, because of the high variability of the splenic phenotype among patients of both groups.
Authors: Carlos F Ugas Charcape; Larry R Alpaca Rodriguez; Irma A Matos Rojas; Claudia I Lazarte Rantes; Melissa Valdez Quintana; Doris A Katekaru Tokeshi; Monica Epelman Journal: Pediatr Radiol Date: 2019-06-05
Authors: Diego B Ortega-Zhindón; Iris P Flores-Sarria; María A Minakata-Quiróga; Stephanie T Angulo-Cruzado; Luis A Romero-Montalvo; Jorge L Cervantes-Salazar Journal: Arch Cardiol Mex Date: 2021-11-01
Authors: Elisabeth Seidl-Mlczoch; Gregor Kasprian; Erwin Kitzmueller; Daniel Zimpfer; Irene Steiner; Victoria Jowett; Marlene Stuempflen; Alice Wielandner; Barbara Ulm; Ina Michel-Behnke Journal: Front Pediatr Date: 2022-07-14 Impact factor: 3.569
Authors: E Seidl-Mlczoch; G Kasprian; A Ba-Ssalamah; M Stuempflen; E Kitzmueller; D A Muin; D Zimpfer; D Prayer; I Michel-Behnke; B Ulm Journal: Ultrasound Obstet Gynecol Date: 2021-12 Impact factor: 8.678