Long-term survival and phenotypic spectrum in heterotaxy syndrome

A 25-year follow-up experience

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)100-105
Number of pages6
JournalInternational Journal of Cardiology
Volume268
DOIs
Publication statusPublished - Oct 1 2018

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Heterotaxy Syndrome
Survival
Spleen
Transplants
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Mortality
Cardiac Arrhythmias
Multivariate Analysis

Cite this

@article{45d85f05eb0e4870b3ef7297d1b171fe,
title = "Long-term survival and phenotypic spectrum in heterotaxy syndrome: A 25-year follow-up experience",
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.",
author = "Anwar Baban and Nicoletta Cantarutti and Rachele Adorisio and Roberta Lombardi and Giulio Calcagni and {Piano Mortari}, Eva and Bruno Dallapiccola and Bruno Marino and Iorio, {Fiore Salvatore} and Rita Carsetti and Digilio, {Maria Cristina} and Salvatore Giannico and Fabrizio Drago and Adriano Carotti",
note = "Copyright {\circledC} 2018 Elsevier B.V. All rights reserved.",
year = "2018",
month = "10",
day = "1",
doi = "10.1016/j.ijcard.2018.02.050",
language = "English",
volume = "268",
pages = "100--105",
journal = "International Journal of Cardiology",
issn = "0167-5273",
publisher = "Elsevier Ireland Ltd",

}

TY - JOUR

T1 - Long-term survival and phenotypic spectrum in heterotaxy syndrome

T2 - A 25-year follow-up experience

AU - Baban, Anwar

AU - Cantarutti, Nicoletta

AU - Adorisio, Rachele

AU - Lombardi, Roberta

AU - Calcagni, Giulio

AU - Piano Mortari, Eva

AU - Dallapiccola, Bruno

AU - Marino, Bruno

AU - Iorio, Fiore Salvatore

AU - Carsetti, Rita

AU - Digilio, Maria Cristina

AU - Giannico, Salvatore

AU - Drago, Fabrizio

AU - Carotti, Adriano

N1 - Copyright © 2018 Elsevier B.V. All rights reserved.

PY - 2018/10/1

Y1 - 2018/10/1

N2 - 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.

AB - 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.

U2 - 10.1016/j.ijcard.2018.02.050

DO - 10.1016/j.ijcard.2018.02.050

M3 - Article

VL - 268

SP - 100

EP - 105

JO - International Journal of Cardiology

JF - International Journal of Cardiology

SN - 0167-5273

ER -