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Presenting features and clinical outcomes for children with metabolic cardiomyopathies
Heart,
Lung
and Circulation
2003;
Selected
12
as Z scores). Late cardiac dysfunction was defined as persisting LV dilatation with a FS < 20% at two years after presentation. Study endpoints were death or cardiac transplantation. Results cardiac another
The results are shown in the table. Of 24 children with dysfunction, 11 (46%) died or required transplantation 11 (46%) have a dilated LV with FS < 20%.
Median age (months) Pas family history Mean LVEDd Z Mean LVFS Z Median ZRV6 Biopsy myocarditis
late and
Death /transplant
Late dysfunction
Partial /complete recovery
P-value
6.0 (o-120)
6.0(0.03-111)
8.3 (O-112)
0.99
29%
17%
7%
0.002
3.63
5.32
4.27
0.06
- 11.58
-10.50
-9.80
0.0005
0.84
1.92
0.90
0.01
0%
0%
52%
0.004
Conclusion Children with DCM who develop late ventricular dysfunction are characterized by presenting LV voltages in V6 and LV diastolic dimensions that are larger than those of children who die early or recover. This group is at risk of late death and the probability of ultimate recovery of ventricular function is low. Key words: Cardiomyopathies, dilated, Heart defects, congenital
Presenting Features and Clinical Outcomes Metabolic Cardiomyopathies Alan Nugent, Piers Daubeney, Stephen Kahler, Carlin, Robert Weintraub Royal Children’s Hospital, Melbourne, Australia
for Patty
Children
with
Chondros,
John
Background Metabolic diseases are an important cause of childhood cardiomyopathy. This review examines the presenting features and clinical outcomes for children with these conditions enrolled in the National Australian Childhood Cardiomyopathy Study. Methods Cases were classified according to accepted WHO guidelines. Metabolic diseases were defined as those with a biochemical abnormality aetiologically linked to the cardiomyopathy. Children with progressive systemic or neuromuscular diseases were excluded from consideration. Results There were 28 children with metabolic conditions, or 8.9% of the total study population. They included 6.5% of patients with DCM, 2.5% of patients with HCM and 32.6% of patients with unclassified cardiomyopathy. Congestive heart failure at presentation was present in 21/28 (75%). The commonest diagnoses included respiratory chain enzyme deficiencies (lo), Barth syndrome (8), carnitine deficiency syndromes (4) and fatty acid oxidation defects (4). Children with respiratory chain enzyme deficiencies had variable cardiomyopathies including DCM, HCM and mixed hypertrophy with reduced systolic function. 7 of 8 (87.5%) children with Barth syndrome had features of LV noncompaction (LVNC) and the other one had DCM. Children with Barth syndrome comprised 7 of 29 (24%) patients with LVNC. 6 of 8 other children with unclassified cardiomyopathy consisting of increased LV wall thickness with reduced systolic function, were found to have a metabolic disease. The overall mortality was 17/28 (60.7%). In 6 of 10 children, the diagnosis of a respiratory chain defect was not made until after death. Conclusion There is considerable clinical heterogeneity among children with metabolic cardiomyopathies. Males with LVNC should be evaluated for Barth syndrome. Routine assay of respiratory chain enzymes on postmortem or explanted hearts may improve the diagnostic yield in children with differing types of cardiomyopathy. Key words: Cardiomyopathies, other, Heart defects, congenital, Metabolism
abstracts
from
the XIVth World Congress of Cardiology, May 5-9,2002
Increased Incidence of Dilated Cardiomyopathy Australian Children Alan Nugent, Piers Daubeney, Patty Chondros, Carlin, Robert Weintraub Royal Children’s Hospital, Melbourne, Australia
Among
A89
Aboriginal
Stephen
Kahler,
John
Background Better information about the epidemiology of childhood cardiomyopathy (CM) would assist in understanding possible aetiologies and planning of medical services in this group of patients. Methods The National Australian Childhood Cardiomyopathy Study is a population-based study which includes all children in Australia with primary CM who presented at O-10 years of age between the years 1987 and 1997. Cases were collected from all paediatric cardiologists and paediatric cardiac centres, as well as from adult cardiologists, regional paediatricians, cardiac transplant centres and coronial records. Study proformas were completed by the same 3 investigators who undertook a series of site visits to each centre and viewed all available medical records and cardiac imaging. Cases were classified according to accepted WHO guidelines. The mean annual incidence for each CM type was obtained by dividing the mean number of newly diagnosed cases occurring each year during the study period by the mean at-risk population during this time, based on data obtained from the Australian Bureau of Statistics. Results The mean annual incidence over the lo-year study period/100 000 at risk population is shown in the table. Aboriginal
Nonaboriginal
Dilated CM Hyperhophic CM Restrictive CM Unclassified CM
1.52 0.22 0.00 0.22
0.70 0.32 0.03 0.16
#P = 0.01 compared
to non-Aboriginal
population
Incidence ratio
95%CI
2.18# 0.69
1.17-3.76 0.08-2.54
1.32
0.16-5.11
Although the overall mortality for Aboriginal children did not differ from that of the rest of the study population (44% vs. 34%; P = 0.4), more Aboriginal children presented with sudden death (16.7% vs. 2.7%, P = 0.02). Conclusion Aboriginal Australian children have a higher incidence of dilated cardiomyopathy and are more likely to die at presentation, than non-Aboriginal children. Key words: Cardiomyopathies, dilated, Heart defects, congenital Late Morbidity After Fontan Surgery Ashutosh Marwah’, James L Wilkinson’, Christian Brizzard’, Andrew Cochrane’ ‘Royal Children’s Hospital, Melbourne, Hospital, Seoul, Korea
Nam Austrnlia;
Su Kim2,
Dan J Penny’,
2Hanyang
University
Background 274 patients underwent Fontan surgery at the Royal Children’s Hospital, Melbourne between the years 1980 and 1997. Out of 274 patients, 256 (93.4%) patients survived for more than one year after the surgery and were available for follow-up. Of these 58 (22.2%) patients experienced significant late morbidity with arrhythmias, ventricular dysfunction, major AV valvular regurgitation or proteinlosing enteropathy. Methods Retrospective analysis of patient records aimed to relate morbidity to preoperative anatomy and/or other identifiable factors, in order to evaluate which constitute ‘risk factors’ for late Fontan failure. Results Amongst the survivors, there were 65 (25.9%) with tricuspid atresia (TA), 60 (23.4%) with double-inlet left ventricle (DILV), 25 (9.7%) with isomeric hearts, 17 (6.6%) with pulmonary atresia with intact septum (PAIS), 3 (1.1%) with hypoplastic left heart syndrome (HLHS) and 86 (33.5%) with other complex abnormalities. Of 58 patients with late problems, 11 (19%) died, including a sudden death of previously well patient. 11 (19%) required takedown of Fontan and 5 (8.6%) patients had cardiac-transplant. Symptomatic arrhythmias, requiring treatment occurred in 38. The type of arrythmia and time of onset was not related to the underlying anatomy, or the type of surgery. Other morbidity was seen in 34 patients (some of whom also experienced arrhythmias). 6 had protein losing enteropathy, 13 had
Lung
and Circulation
2003;
Selected
12
as Z scores). Late cardiac dysfunction was defined as persisting LV dilatation with a FS < 20% at two years after presentation. Study endpoints were death or cardiac transplantation. Results cardiac another
The results are shown in the table. Of 24 children with dysfunction, 11 (46%) died or required transplantation 11 (46%) have a dilated LV with FS < 20%.
Median age (months) Pas family history Mean LVEDd Z Mean LVFS Z Median ZRV6 Biopsy myocarditis
late and
Death /transplant
Late dysfunction
Partial /complete recovery
P-value
6.0 (o-120)
6.0(0.03-111)
8.3 (O-112)
0.99
29%
17%
7%
0.002
3.63
5.32
4.27
0.06
- 11.58
-10.50
-9.80
0.0005
0.84
1.92
0.90
0.01
0%
0%
52%
0.004
Conclusion Children with DCM who develop late ventricular dysfunction are characterized by presenting LV voltages in V6 and LV diastolic dimensions that are larger than those of children who die early or recover. This group is at risk of late death and the probability of ultimate recovery of ventricular function is low. Key words: Cardiomyopathies, dilated, Heart defects, congenital
Presenting Features and Clinical Outcomes Metabolic Cardiomyopathies Alan Nugent, Piers Daubeney, Stephen Kahler, Carlin, Robert Weintraub Royal Children’s Hospital, Melbourne, Australia
for Patty
Children
with
Chondros,
John
Background Metabolic diseases are an important cause of childhood cardiomyopathy. This review examines the presenting features and clinical outcomes for children with these conditions enrolled in the National Australian Childhood Cardiomyopathy Study. Methods Cases were classified according to accepted WHO guidelines. Metabolic diseases were defined as those with a biochemical abnormality aetiologically linked to the cardiomyopathy. Children with progressive systemic or neuromuscular diseases were excluded from consideration. Results There were 28 children with metabolic conditions, or 8.9% of the total study population. They included 6.5% of patients with DCM, 2.5% of patients with HCM and 32.6% of patients with unclassified cardiomyopathy. Congestive heart failure at presentation was present in 21/28 (75%). The commonest diagnoses included respiratory chain enzyme deficiencies (lo), Barth syndrome (8), carnitine deficiency syndromes (4) and fatty acid oxidation defects (4). Children with respiratory chain enzyme deficiencies had variable cardiomyopathies including DCM, HCM and mixed hypertrophy with reduced systolic function. 7 of 8 (87.5%) children with Barth syndrome had features of LV noncompaction (LVNC) and the other one had DCM. Children with Barth syndrome comprised 7 of 29 (24%) patients with LVNC. 6 of 8 other children with unclassified cardiomyopathy consisting of increased LV wall thickness with reduced systolic function, were found to have a metabolic disease. The overall mortality was 17/28 (60.7%). In 6 of 10 children, the diagnosis of a respiratory chain defect was not made until after death. Conclusion There is considerable clinical heterogeneity among children with metabolic cardiomyopathies. Males with LVNC should be evaluated for Barth syndrome. Routine assay of respiratory chain enzymes on postmortem or explanted hearts may improve the diagnostic yield in children with differing types of cardiomyopathy. Key words: Cardiomyopathies, other, Heart defects, congenital, Metabolism
abstracts
from
the XIVth World Congress of Cardiology, May 5-9,2002
Increased Incidence of Dilated Cardiomyopathy Australian Children Alan Nugent, Piers Daubeney, Patty Chondros, Carlin, Robert Weintraub Royal Children’s Hospital, Melbourne, Australia
Among
A89
Aboriginal
Stephen
Kahler,
John
Background Better information about the epidemiology of childhood cardiomyopathy (CM) would assist in understanding possible aetiologies and planning of medical services in this group of patients. Methods The National Australian Childhood Cardiomyopathy Study is a population-based study which includes all children in Australia with primary CM who presented at O-10 years of age between the years 1987 and 1997. Cases were collected from all paediatric cardiologists and paediatric cardiac centres, as well as from adult cardiologists, regional paediatricians, cardiac transplant centres and coronial records. Study proformas were completed by the same 3 investigators who undertook a series of site visits to each centre and viewed all available medical records and cardiac imaging. Cases were classified according to accepted WHO guidelines. The mean annual incidence for each CM type was obtained by dividing the mean number of newly diagnosed cases occurring each year during the study period by the mean at-risk population during this time, based on data obtained from the Australian Bureau of Statistics. Results The mean annual incidence over the lo-year study period/100 000 at risk population is shown in the table. Aboriginal
Nonaboriginal
Dilated CM Hyperhophic CM Restrictive CM Unclassified CM
1.52 0.22 0.00 0.22
0.70 0.32 0.03 0.16
#P = 0.01 compared
to non-Aboriginal
population
Incidence ratio
95%CI
2.18# 0.69
1.17-3.76 0.08-2.54
1.32
0.16-5.11
Although the overall mortality for Aboriginal children did not differ from that of the rest of the study population (44% vs. 34%; P = 0.4), more Aboriginal children presented with sudden death (16.7% vs. 2.7%, P = 0.02). Conclusion Aboriginal Australian children have a higher incidence of dilated cardiomyopathy and are more likely to die at presentation, than non-Aboriginal children. Key words: Cardiomyopathies, dilated, Heart defects, congenital Late Morbidity After Fontan Surgery Ashutosh Marwah’, James L Wilkinson’, Christian Brizzard’, Andrew Cochrane’ ‘Royal Children’s Hospital, Melbourne, Hospital, Seoul, Korea
Nam Austrnlia;
Su Kim2,
Dan J Penny’,
2Hanyang
University
Background 274 patients underwent Fontan surgery at the Royal Children’s Hospital, Melbourne between the years 1980 and 1997. Out of 274 patients, 256 (93.4%) patients survived for more than one year after the surgery and were available for follow-up. Of these 58 (22.2%) patients experienced significant late morbidity with arrhythmias, ventricular dysfunction, major AV valvular regurgitation or proteinlosing enteropathy. Methods Retrospective analysis of patient records aimed to relate morbidity to preoperative anatomy and/or other identifiable factors, in order to evaluate which constitute ‘risk factors’ for late Fontan failure. Results Amongst the survivors, there were 65 (25.9%) with tricuspid atresia (TA), 60 (23.4%) with double-inlet left ventricle (DILV), 25 (9.7%) with isomeric hearts, 17 (6.6%) with pulmonary atresia with intact septum (PAIS), 3 (1.1%) with hypoplastic left heart syndrome (HLHS) and 86 (33.5%) with other complex abnormalities. Of 58 patients with late problems, 11 (19%) died, including a sudden death of previously well patient. 11 (19%) required takedown of Fontan and 5 (8.6%) patients had cardiac-transplant. Symptomatic arrhythmias, requiring treatment occurred in 38. The type of arrythmia and time of onset was not related to the underlying anatomy, or the type of surgery. Other morbidity was seen in 34 patients (some of whom also experienced arrhythmias). 6 had protein losing enteropathy, 13 had