1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review

Background: Monosomy 1p36 syndrome is now considered the most common terminal deletion syndrome, with an estimated incidence of 1 in 5000. Cardiac involvement is well described in the literature mainly in terms of congenital heart defects (CHDs) and cardiomyopathies (CMPs). Few data in the literature describe the potential progressive nature of aortic dilatation (root and ascending aorta) in 1p36 deletion syndrome. SKI harboured in the deleted region might play a predisposing factor for this aspect. Methods: we reviewed the aortic aspect both in the literature and in our cohort, where major attention to the aortic abnormalities was given through dedicated echocardiographic measurements even in previously screened individuals. Results: aortic involvement in 1p36 deletion syndrome was described in the literature three times within the CHD context. We observed three additional patients from our cohort (three out of nine patients) with aortic dilatation. All patients with dilated aorta had SKI haploinsufficiency within the deleted region. Conclusions: at long-term outcome and with a growing population of this rare disease, this association (1p36 deletion and aortic dilatation) might represent a major concern especially in terms of risk stratification and the potential need for specific management (conservative pharmacologic and eventually surgical) whenever indicated. The present study suggests the need for detailed multicentric studies and indication to periodic echocardiographic screening in addition to baseline tests, especially in individuals with deletions harbouring SKI.

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Abstract and Posters of the XXXIV Annual Meeting of The Association for European Paediatric Cardiology, Sofia, 19-22 May, 1999

Cardiology in the Young ◽

10.1017/s1047951100007721 ◽

1999 ◽

Vol 9 (S2) ◽

pp. 1-38

Keyword(s):

Gestational Age ◽

Heart Defects ◽

Neonatal Morbidity ◽

In Utero ◽

Structural Abnormality ◽

Term Outcome ◽

Long Term Outcome ◽

Congenital Complete Heart Block ◽

Few Data

Introduction: Only few data are available in literature regarding the long term outcome of the newborns with isolated congenital complete heart block (CHB). The aim of the study was to describe neonatal morbidity, incidence of minor heart defects, mortality and the risks of poor outcome in the patients with CHB diagnosed in utero or as a newborn.Patients and methods: Since 1950, CHB whithout structural abnormality has been diagnosed in 152 children aged between 0-15 years in five tertiary centers in Finland. Diagnosis was made in utero or postnatally in 91 children with a median gestational age of 29.3 weeks. Maternal connective tissue disease was evident in 90% of the cases. At birth the median gestational age was 37.1 weeks (range 29–41) and the median birthweight 2969 g (range 905–4370 g). Sixty infants of 91 (66%) were girls and 7 of 91 (8%) were twins. Mean follow-up time was 10.6 years (range 0–47.5 years).Results: Fetal heart rate at diagnosis was 57 beats/min (median), and after birth 56 beats/min. Delivery route was cesarean section in 57% of cases. Insidence of neonatal morbidity was 58%; hydrops 27%, cardiac failure 46%, symptoms of neonatal lupus 18%, symptomatic PDA 16%, RDS 8%, NEC 7%, 1VH 6% and pulmonary hypertension 4%. There were 6 perinatal deaths (7%; one in utero and 5 postnatally). Pacing as a newborn was indicated in 48 of 90 cases (53%); 36 received pacemaker (PM) at older ages.

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Problems in the diagnosis of discordant atrioventricular with concordant ventriculo-arterial connections: anatomical considerations, surgical management, and long-term outcome

Cardiology in the Young ◽

10.1017/s1047951115000736 ◽

2015 ◽

Vol 26 (1) ◽

pp. 127-138 ◽

Cited By ~ 1

Author(s):

Daniela Laux ◽

Lucile Houyel ◽

Fanny Bajolle ◽

Francesca Raimondi ◽

Younes Boudjemline ◽

...

Keyword(s):

Surgical Management ◽

Heart Defects ◽

Pacemaker Implantation ◽

Heterotaxy Syndrome ◽

Term Outcome ◽

Long Term Outcome ◽

Atrial Switch ◽

Great Vessels

AbstractBackgroundDiscordant atrioventricular with concordant ventriculo-arterial connections is a rare cardiac defect. When isolated, the haemodynamics resemble transposition of the great arteries. In complex heart defects such as heterotaxy, haemodynamics guide the surgical approach.ObjectiveTo report a series of eight patients with discordant atrioventricular and concordant ventriculo-arterial connections focussing on anatomical and diagnostic difficulties, surgical management, and follow-up.MethodsA retrospective review was carried out from 1983 to 2013. Anatomical description was based on segmental analysis. Emphasis was placed on the venoatrial connections.ResultsSegmental arrangement was {I, D, S} in six patients, all with spiralling great vessels. There were two patients with parallel great vessels of whom one had {S, L, D} and the other had {S, L, A} arrangement. Of eight patients, five had heterotaxy syndrome. Median age at repair surgery was 1.4 years (with a range from 1.1 months to 8.1 years). The repair surgery finally performed was the atrial switch procedure in seven out of eight patients. The main post-operative complications were two cases of baffle obstruction and one sick sinus syndrome needing pacemaker implantation. There were two early post-operative deaths and six late survivors. Median follow-up was 4.2 years (with a range from 3.9 to 26.7 years) with good functional status in all survivors.DiscussionDiagnosing discordant atrioventricular with concordant ventriculo-arterial connections remains challenging. There are ongoing controversies about the definition of atrial morphology and heterotaxy syndrome animating the anatomic discussion of these complex heart defects. Haemodynamically, the atrial switch procedure is the surgical method of choice with an encouraging long-term follow-up despite rhythm disturbances and baffle obstruction.

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Presentation and surgical results of incidentally discovered nonfunctioning pituitary adenomas: evidence for a better outcome independently of other patients' characteristics

Acta Endocrinologica ◽

10.1530/eje-13-0515 ◽

2013 ◽

Vol 169 (6) ◽

pp. 735-742 ◽

Cited By ~ 26

Author(s):

Marco Losa ◽

Carmine A Donofrio ◽

Raffaella Barzaghi ◽

Pietro Mortini

Keyword(s):

Multivariate Analysis ◽

Residual Tumor ◽

Radical Resection ◽

Control Group ◽

Surgical Results ◽

Term Outcome ◽

Long Term Outcome ◽

Asymptomatic Patients ◽

Few Data

ObjectiveFew data are available on the surgical results in patients with incidentally discovered nonfunctioning pituitary adenoma (NFPA). We investigated the efficacy and safety of surgery in patients with incidentally discovered NFPA.DesignRetrospective analysis of prospectively recorded outcomes.MethodsFrom 1990 to 2011, of 804 consecutive patients undergoing surgery for NFPA, 212 cases had an incidentally discovered tumor (26.4%). Among them, 117 patients were asymptomatic, while 95 had some visual and/or hormonal deficit. The main outcome of the study was to evaluate the frequency of radical resection as judged on the first postoperative neuroimaging study and detection of recurring disease during long-term follow-up.ResultsPostoperative residual tumor was detected in 8.9% of patients with asymptomatic incidentalomas as compared with 31.2% of patients with symptomatic incidentalomas (P<0.001) and 41.2% of patients in the control group (P<0.001). Multivariate analysis confirmed that having an asymptomatic incidentaloma was independently associated with a better outcome. The 5-year recurrence-free survival in patients with incidentaloma was 86.8% (95% CI 80.2–92.4%) as compared with 77.9% (95% CI 73.6–82.2%; P<0.01) in the control group. This difference was almost completely due to a lower frequency of relapse in asymptomatic patients. Multivariate analysis confirmed the independent lower risk of tumor recurrence in asymptomatic NFPA.ConclusionOur study shows for the first time that surgically treated patients with asymptomatic NFPA have a better early and long-term outcome that is independent from all the other demographic, clinical, and morphologic characteristics of the patients.

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Intracardiac Lateral Tunnel Fontan by using Right Atrial Wall

Cardiovascular Journal ◽

10.3329/cardio.v9i1.29547 ◽

2016 ◽

Vol 9 (1) ◽

pp. 68-72 ◽

Cited By ~ 1

Author(s):

Md Zahidul Islam ◽

AM Asif Rahim ◽

Kazi Abul Hasan ◽

Syed Imtiaz Ahsan

Keyword(s):

Heart Defects ◽

Pulmonary Stenosis ◽

Fontan Procedure ◽

Right Atrial ◽

Atrial Wall ◽

Term Outcome ◽

Transposition Of Great Arteries ◽

Long Term Outcome ◽

Lateral Tunnel

The Fontan procedure is a palliative surgical procedure used in children with complex congenital heart defects. It involves diverting the venous blood from the right atrium to the pulmonary arteries without passing through the morphologic right ventricle. A 23 years old adult male from Noakhali admitted with the diagnosis of transposition of great arteries (D-TGA) with large perimembranous ventricular septal defect (PM VSD) with severe pulmonary stenosis (PS) and single ventricle morphology in National Institute of Cardiovascular Disease (NICVD), Dhaka .He underwent Intracardiac lateral tunnel Fontan by using right atrial wall. Patient recovered uneventfully in his early postoperative period. The lateral tunnel Fontan procedure results in excellent long-term outcome even when used in patients with diverse anatomic diagnoses. The incidence of atrial tachyarrhythmia is low and mainly depends on the underlying cardiac morphology and preoperative arrhythmia. The good long-term outcome after an intracardiac lateral tunnel Fontan procedure should serve as a basis for comparison with other surgical alternatives. But using right atrial wall as a buffle is rare and done first time in Bangladesh.Cardiovasc. j. 2016; 9(1): 68-72

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MO001THE EUROPEAN DRTA REGISTRY: AN INITIAL DATA ANALYSIS*

Nephrology Dialysis Transplantation ◽

10.1093/ndt/gfab077.001 ◽

2021 ◽

Vol 36 (Supplement_1) ◽

Author(s):

Detlef Bockenhauer ◽

Francesco Emma ◽

Amina Talhi ◽

Svetlana Papizh ◽

Bahriye Atmis ◽

...

Keyword(s):

Distal Tubule ◽

Rare Disorder ◽

Reference Network ◽

Term Outcome ◽

Adequate Treatment ◽

Long Term Outcome ◽

Clinical Consequences ◽

Few Data

Abstract Background and Aims Distal renal tubular acidosis (dRTA) is a rare disorder characterised by an inability of the distal tubule to secrete acid, leading to metabolic acidosis. Clinical consequences typically include hypokalaemia, hypercalciuria with nephrocalcinosis and/or urolithiasis, as well as bone disease. Treatment with adequate alkali supplementation corrects the acidosis and hypercalciuria, but there are few data on long-term outcome. In 2018, a registry for dRTA was established by the European Society for Paediatric Nephrology, hosted by the European Rare Kidney Disease Reference Network. Here, we present an initial analysis of data in the registry. Method Analysis of data entered into the registry by the cut-off data of 18/11/2020. Results A total of 135 patients had been entered, of which 106 had additional data from an annual follow-up visit. Median age at last visit was 10 years (range 0-54), including 16 adults (>17y). Genetic testing had been performed in 91 subjects and causative variants were reported in 74 (81%). Pertinent clinical details according to genetic group are listed in table 1. Treatment was provided with at least 15 different preparations, containing citrate or bicarbonate, given in 1-10 (median 3) daily doses. Adequate treatment at last follow-up, as judged by a plasma bicarbonate level >21 mmol/l and a urine calcium-creatinine ratio in the age-specific normal range was present in 46% of subjects. There was a trend for higher eGFR and height SDS in subjects with adequate treatment compared to those without, but this was not statistically significant. Conclusion Currently available data demonstrate the difficulties in treating dRTA, with less than half of subjects achieving adequate control of their acidosis. By collecting long-term data, the registry will provide important information on the prognosis and complications of dRTA and to what degree these can be prevented with treatment. Enrollment of further, especially adult patients will contribute to our understanding of this rare disorder.

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