Major heart defects: the diagnostic evaluations of first-year-olds

Abstract Background Severe or critical congenital heart defects (CHDs) constitute one third of the heart defect cases detected only after birth. These prenatally unrecognised defects usually manifest as cyanotic or acyanotic lesions and are diagnosed postnatally at various times. The aim of the study was to identify their clinical symptoms and determine individual risk periods for CHD manifestation. Methods Data were assessed retrospectively based on a cohort of patients born between 2009 and 2018 in a population of 175,153 live births. Occurrence of the first symptoms of CHD was classified into: early neonatal (0–7 days), late neonatal (8–28 days), early infancy (1–6 months), or late infancy (6–12 months). The first symptom for which the child was referred to a paediatric cardiologist was defined as a symptom of CHD. Results There were 598 major CHDs diagnosed in the studied region, 91% of which were isolated anomalies. A concomitant genetic disorder was diagnosed in 6% of the cases, while 3% presented extracardiac pathology with a normal karyotype. In total, 47% (282/598) of all CHDs were not identified prenatally. Of these, 74% (210/282) were diagnosed as early neonates, 16% (44/282) as late neonates, and 10% (28/282) as infants. The most common symptoms leading to the diagnosis of CHD were heart murmur (51%, 145/282) and cyanosis (26%, 73/282). Diagnosis after discharge from the hospital occurred in 12% (72/598) of all major CHDs. Ventricular septal defect and coarctation of the aorta constituted the majority of delayed diagnoses. Conclusions In conclusion, murmur and cyanosis are the most common manifestations of prenatally undetected CHDs. Although most children with major CHDs are diagnosed as neonates, some patients are still discharged from the maternity hospital with an unidentified defect.

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Prenatally undetected major heart defects: clinical findings and time of diagnosis

10.21203/rs.2.21761/v2 ◽

2020 ◽

Author(s):

Jan Pavlicek ◽

Eva Klaskova ◽

Sabina Kapralova ◽

Alzbeta Palatova ◽

Alicja Piegzova ◽

...

Keyword(s):

Septal Defect ◽

Clinical Symptoms ◽

Heart Defects ◽

Genetic Disorder ◽

Coarctation Of The Aorta ◽

Normal Karyotype ◽

Maternity Hospital ◽

Clinical Findings ◽

Individual Risk ◽

Heart Murmur

Abstract Background: Severe or critical congenital heart defects (CHDs) constitute one third of the heart defect cases detected only after birth. These prenatally unrecognised defects usually manifest as cyanotic or acyanotic lesions and are diagnosed postnatally at various times. The aim of the study was to identify their clinical symptoms and determine individual risk periods for CHD manifestation. Methods: Data were assessed retrospectively based on a cohort of patients born between 2009 and 2018 in a population of 175,153 live births. Occurrence of the first symptoms of CHD was classified into: early neonatal (0–7 days), late neonatal (8–28 days), early infancy (1–6 months), or late infancy (6–12 months). The first symptom for which the child was referred to a paediatric cardiologist was defined as a symptom of CHD. Results: There were 598 major CHDs diagnosed in the studied region, and 70% were isolated anomalies. A concomitant genetic disorder was diagnosed in 20% of the cases, while 10% presented extracardiac pathology with a normal karyotype. In total, 47% (282/598) of all CHDs were not identified prenatally. Of these, 74% (210/282) were diagnosed as early neonates, 16% (44/282) as late neonates, and 10% (28/282) as infants. The most common symptoms leading to the diagnosis of CHD were heart murmur (53%, 149/282) and cyanosis (24%, 69/282). Diagnosis after discharge from the hospital occurred in 12% (72/598) of all major CHDs. Most delayed diagnoses consisted of ventricular septal defect and coarctation of the aorta. Conclusions: In conclusion, murmur and cyanosis are the most common manifestations of prenatally undetected CHDs. Although most children with major CHDs are diagnosed as neonates, some patients are still discharged from the maternity hospital with an unidentified defect.

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First symptoms of prenatally undetected heart defects

10.21203/rs.2.21761/v1 ◽

2020 ◽

Author(s):

Jan Pavlicek ◽

Eva Klaskova ◽

Sabina Kapralova ◽

Alzbeta Palatova ◽

Alicja Piegzova ◽

...

Keyword(s):

Retrospective Cohort ◽

Congenital Heart ◽

Clinical Symptoms ◽

Heart Defects ◽

Genetic Disorder ◽

Normal Karyotype ◽

Individual Risk ◽

Heart Murmur ◽

Live Births ◽

Pediatric Cardiologist

Abstract Background: Severe or critical congenital heart defects (CHDs) are 35% of those detected only after birth. The aim of the study was to measure the incidence of these CHDs, identify their clinical symptoms, and determine individual risk periods for CHD manifestation. Methods: This retrospective cohort study was conducted from 2009 to 2018 in a population of 175,153 live births. Occurrence of the first symptoms of CHD was noted as early neonatal (0–7 days), late neonatal (8–28 days), in early infancy (1–6 months), or in late infancy (6–12 months). The first symptom for which the child was referred to a pediatric cardiologist was defined as a symptom of CHD. Results : There were 598 severe CHDs diagnosed (3.3 cases/1000), and 70% were isolated anomalies. A concomitant genetic disorder was diagnosed in 20%, and extracardiac pathology with a normal karyotype was present in 10%. Of the total, 53% of CHDs were detected prenatally and excluded. The remaining 47% developed CHD symptoms postnatally. Of these, 74% were diagnosed as early neonates, 16% as late neonates, and 10% as infants. Defects requiring repeated operations manifested significantly earlier than those with requiring one primary correction. The most common symptoms leading to the diagnosis of CHD were heart murmur and cyanosis. Conclusions : Despite the effectiveness of prenatal diagnosis, some children will be born with undiagnosed major heart defects. Assessment of symptoms and early detection of the defect is crucial.

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A Rare Case of Vascular Ring and Coarctation of the Aorta in Association with CHARGE Syndrome

Texas Heart Institute Journal ◽

10.14503/thij-16-5819 ◽

2017 ◽

Vol 44 (2) ◽

pp. 138-140

Author(s):

Jonathan B. Wagner ◽

Joshua Q. Knowlton ◽

Peter Pastuszko ◽

Sanket S. Shah

Keyword(s):

Aortic Arch ◽

Rare Case ◽

Heart Defects ◽

Genetic Disorder ◽

Vascular Ring ◽

Choanal Atresia ◽

Coarctation Of The Aorta ◽

Charge Syndrome ◽

Rare Type ◽

Aortic Arch Anomaly

A male neonate presented with CHARGE syndrome, a multiorgan genetic disorder involving the Coloboma of the eyes, congenital Heart defects, nasal choanal Atresia, growth and development Retardation, Genitourinary disorders, and Ear anomalies and deafness. Moreover, he had a rare case of vascular ring—consisting of a right aortic arch with retroesophageal brachiocephalic artery—combined with coarctation of the mid-aortic arch. He underwent both vascular ring and aortic arch repair at our institution. To our knowledge, this is the 4th documented case of this exceedingly rare type of aortic arch anomaly combined with aortic arch obstruction. Moreover, it is the first confirmed case of these combined disorders occurring in CHARGE syndrome. This report describes a truly rare case and reveals the limitations of echocardiography in detecting complex aortic arch anomalies while illustrating the benefits of advanced imaging prior to surgical intervention.

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COARCTATION OF THE AORTA IN INFANTS

PEDIATRICS ◽

10.1542/peds.26.1.109 ◽

1960 ◽

Vol 26 (1) ◽

pp. 109-121

Author(s):

Irving H. Glass ◽

William T. Mustard ◽

John D. Keith

Keyword(s):

Blood Pressure ◽

Septal Defect ◽

Operative Mortality ◽

Ductus Arteriosus ◽

Coarctation Of The Aorta ◽

First Year ◽

Great Vessels ◽

Sick Children ◽

First Year Of Life ◽

Symptoms And Signs

A review of 108 cases of coarctation of the aorta diagnosed under 1 year of age, and admitted to The Hospital for Sick Children, Toronto, over a 12-year period, is presented. Preductal coarctation accounted for 90% of the fatalities under 1 year. Patency of the ductus arteriosus occurned in 98% of cases in the first 6 months of life. Forty-nine per cent of cases of coarctation of the aorta under 1 year of age have major cardiac anomalies other than patent ductus: ventricular septal defect, 33%; transposition of great vessels, 10%; and atrial septal defect, 6%. Problems in diagnosis occurred when blood pressure readings were equivocal. Operative mortality for coarctation of the aorta in the first year of life was 41%, while after 1 month of age it was only 29%. Mortality in patients not operated on during the first year of life was 50%, while for those less than 1 month of age with symptoms and signs of decompensation and not operated on, the mortality was 87%. In dealing with coarctation of the aorta in the first year of life the following are recommended: 1) When blood pressure readings in the arms and legs are equivocal, the readings should be repeated frequently until the diagnosis is clarified; 2) aortogram should be performed on patients difficult to diagnose; 3) babies presenting with symptoms in the first month of life should be operated on promptly unless they show a dramatic response in a 12-hour trial of treatment with digitalis; 4) babies after 1 month of age who respond to digitalis may be kept on this medication until adequate adjustment in circulatory hemodynamics has taken place and surgery can be performed at the optimum age.

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Prevalence at birth, “natural” risk and survival with atrioventricular septal defect

Cardiology in the Young ◽

10.1017/s1047951100010350 ◽

1991 ◽

Vol 1 (4) ◽

pp. 285-289 ◽

Cited By ~ 7

Author(s):

Milan Samaánek

Keyword(s):

Septal Defect ◽

Heart Defects ◽

Atrioventricular Septal Defect ◽

First Year ◽

Atrioventricular Valve ◽

Cardiac Malformation ◽

Natural Risk ◽

Live Births ◽

Complete Form ◽

Common Atrioventricular Valve

SummaryPrevalence of atrioventricular septal defect in liveborn infants at birth was calculated in Bohemia (population of 6.3 million). Of 664,208 liveborn infants, 4,409 had a congenital malformation of the heart and in 126 of them (0.19/1,000 live births, 2.9% of all heart defects) this was found to be an atrioventricular septal defect. The ratio between those with a common valvar orifice (complete form) versus those with separate right and left atrioventricular valvar orifices (incomplete form) was 1.14:1. The ratio of girls to boys was 1.17:1. Children born in March, July and October were more likely to have the defect (0.26/1,000 live births) than those born in May (0.10/ 1,000 live births). The defect was the eighth most frequent critical congenital cardiac malformation. Eight in each 100,000 liveborn children, and 3.56% of all patients with congenital cardiac disease, are at high risk of dying due to deficient atrioventricular septation, which in 82.5% resulted in the presence of a common atrioventricular valve (complete form). Unconditional death rate was studied in 1,008 liveborn children who died with a cardiac malformation before the age of 15 before the advent of cardiac surgery. Of these, 64 (6.35%) died with an atrioventricular septal defect which was complete in 5.95% and incomplete in 0.40%. All but one of 60 children with the complete form (common atrioventricular valve) died in the first year of life. The last child died between the age of 2 and 5 years. The estimate for natural survival was calculated using our own data on the prevalence and age distribution of mortality. Of all the liveborn children with atrioventricular septal defect, 91% are expected to survive the first month, 81% (78−85) the first trimester, 63% (56−69) six months, and 49% (35−54) the first year. The survival curve remains stable thereafter.

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Rare combination of aortopulmonary septal defect with other heart defects

Kazan medical journal ◽

10.17816/kazmj84430 ◽

2001 ◽

Vol 82 (6) ◽

pp. 457-458

Author(s):

V. A. Lukanikhin ◽

G. I. Kharitonov ◽

N. G. Shigabutdinova ◽

B. A. Ostroumov

Keyword(s):

Pulmonary Artery ◽

Congenital Heart ◽

Septal Defect ◽

Pulmonary Valve ◽

Heart Defects ◽

Ductus Arteriosus ◽

Coarctation Of The Aorta ◽

Ascending Aorta ◽

Pulmonary Artery Stenosis ◽

Patent Ductus

Defects between the ascending aorta and the pulmonary artery are among the rare congenital heart defects (CHD), occurring at a rate of 0.27%. In 10-15% of cases this CHD is combined with patent ductus arteriosus (PDP), coarctation of the aorta. Single cases of its combination with pulmonary artery stenosis have been described in the literature. We present a case of successful correction of aortopulmonary septal defect (ASD) combined with PDP and stenosis of the bicuspid pulmonary valve.

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Double-Outlet Right Ventricle in a Chianina Calf

Animals ◽

10.3390/ani11020318 ◽

2021 ◽

Vol 11 (2) ◽

pp. 318

Author(s):

Domenico Caivano ◽

Maria Chiara Marchesi ◽

Piero Boni ◽

Noemi Venanzi ◽

Giovanni Angeli ◽

...

Keyword(s):

Right Ventricle ◽

Septal Defect ◽

Heart Defects ◽

Double Outlet Right Ventricle ◽

Cardiac Malformation ◽

Septal Defects ◽

Congenital Cardiac Malformation ◽

The Right ◽

Similar Complex ◽

Echocardiographic Findings

Congenital heart defects have been occasionally reported in cattle and ventricular septal defect represents the most frequently encountered anomaly. The double-outlet right ventricle is a rare congenital ventriculoarterial malformation reported only in certain cattle breeds. We describe this rare and complex congenital cardiac malformation observed in a 10-day-old male Chianina calf. Clinical examination showed tachycardia, tachypnea, jugular pulses, cyanotic mucous membranes and a right apical systolic murmur. Transthoracic echocardiography revealed severe dilation of the right-sided cardiac chambers with a markedly hypoplastic left ventricle. Both aorta and pulmonary artery leaving the right ventricle in parallel alignment with the tricuspid valve were suggestive of a dual-outlet right ventricle. Interventricular and interatrial septal defects were also visualized. Post-mortem examination confirmed the echocardiographic findings. To the authors’ knowledge, a similar complex congenital cardiac malformation has not been reported in calves of the Chianina breed to date.

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The outcome of seven patients with hereditary tyrosinemia type 1

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2015-0471 ◽

2016 ◽

Vol 29 (10) ◽

Cited By ~ 4

Author(s):

Songul Gokay ◽

Pembe Soylu Ustkoyuncu ◽

Fatih Kardas ◽

Mustafa Kendirci

Keyword(s):

Clinical Symptoms ◽

Age At Onset ◽

Nodule Formation ◽

First Year ◽

Tyrosine Metabolism ◽

Tyrosinemia Type 1 ◽

Hereditary Tyrosinemia ◽

Biochemical Imaging

AbstractBackground:Hereditary tyrosinemia type 1 (HT1) is a rare, inborn error of tyrosine metabolism. It is a fatal disorder without treatment. Early treatment may prevent acute liver failure, renal dysfunction, liver cirrhosis, hepatocellular carcinoma (HCC) and improves survival. The aim of the present study is to describe the clinical, biochemical, imaging and follow-up of seven patients with HT1 and to define the consequences of the late and interrupted treatment.Methods:A retrospective study was carried out with seven HT1 patients.Results:The median age at onset of clinical symptoms was 11.2 months (range, 3–28 months) and the median age at diagnosis was 22 months (range, 6–58 months). Liver enzymes and coagulation parameters were back to normal in all symptomatic patients in about 2 weeks. Alfa-fetoprotein (AFP) levels were normalized within the first year of therapy. Hypoechoic nodule formation was detected in two of the seven patients despite drug treatment without an increase of AFP and any dysplastic changes in the biopsies. One patient died due to metastatic HCC because of the late diagnosis and the poor compliance of the follow-up.Conclusions:This study showed once again that adherence to the treatment and a follow-up schedule of the patients are very important. Also it should not be forgotten that nodule formation can occur despite nitisinone treatment without an increase of AFP. Despite nitisinone treatment, HT1 patients still carry the risk of HCC. HCC must be detected before metastasis to other organs otherwise, patients may lose the chance for liver transplantation.

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Breast-feeding in Manila, Philippines preliminary results from a longitudinal study

Journal of Biosocial Science ◽

10.1017/s0021932000025177 ◽

1985 ◽

Vol 17 (S9) ◽

pp. 137-146 ◽

Cited By ~ 3

Author(s):

Mayling Simpson-Hebert ◽

Lorna P. Makil

Keyword(s):

Longitudinal Study ◽

Breast Feeding ◽

Low Income ◽

Post Partum ◽

Maternity Hospital ◽

Cultural Factors ◽

Bottle Feeding ◽

Early Termination ◽

First Year ◽

Low Income Families

SummaryLongitudinal data collected over a 2-year period (1982–84) on 152 first and second parity mothers who were delivered in a charity maternity hospital in Manila, Philippines, indicate the reasons for never brest-feeding and for early termination of brest-feeding. Socio-Cultural factors and beliefs are more important than physiological problems in minating breast-feeding.Proper bottle-feeding is too costly for most low-income families. Bottle-fed babies have a higher incidence of diarrhoea. Mothers who change from breast- to bottle-feeding in the first 6 months are 1·7 times as likely to become pregnant in the first year post-partum as mothers Who brest-feed for 7 or more months.

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One-Stage Repair of Cardiac and Arch Anomalies without Circulatory Arrest

Asian Cardiovascular and Thoracic Annals ◽

10.1177/021849230301100315 ◽

2003 ◽

Vol 11 (3) ◽

pp. 250-254 ◽

Cited By ~ 1

Author(s):

Kona Samba Murthy ◽

Robert Coelho ◽

Christopher Roy ◽

Snehal Kulkarni ◽

Benjamin Ninan ◽

...

Keyword(s):

Ventricular Septal Defect ◽

Aortic Arch ◽

Septal Defect ◽

Circulatory Arrest ◽

Coarctation Of The Aorta ◽

Innominate Artery ◽

Double Outlet Right Ventricle ◽

Interrupted Aortic Arch ◽

Ischemic Time ◽

Arch Obstruction

Between 1999 and 2002, 23 patients underwent single-stage complete repair of cardiac anomalies and aortic arch obstruction, without circulatory arrest. Median age was 1.2 years. Intracardiac defects included ventricular septal defect in 9, double-outlet right ventricle in 6, d-transposition of the great arteries and ventricular septal defect in 2, subaortic obstruction in 3, and atrial septal defect in 3. Fourteen patients had coarctation of the aorta, 6 had coarctation with hypoplastic aortic arch, and 3 had interrupted aortic arch. Simple techniques were employed such as cannulation of the ascending aorta near the innominate artery and maintaining cerebral and myocardial perfusion. After correction of arch obstruction, intracardiac repair was undertaken. The mean cardiopulmonary bypass time was 169 min, aortic crossclamp time was 51 min, and arch repair took 16 min. There was no operative mortality or neurological deficit. In follow-up of 1–43 months, no patient had residual coarctation. This simplified technique avoids additional procedures, reduces ischemic time, and prevents problems related to circulatory arrest.

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