Outcome of children referred with heart murmurs referred from general practice to a paediatrician with expertise in cardiology

2014 ◽  
Vol 25 (1) ◽  
pp. 123-127 ◽  
Author(s):  
Abha Khushu ◽  
Anthony W. Kelsall ◽  
Juliet A. Usher-Smith
Keyword(s):  
Primary Care ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Family History ◽  
General Practitioners ◽  
Congenital Heart ◽  
Hospital Records ◽  
Heart Murmurs ◽  
History Of ◽  
Referral Practice

AbstractBackgroundHeart murmurs are common in children. The majority are detected incidentally, and congenital heart disease is rare. There are no published United Kingdom guidelines for management of children with murmurs in primary care. Common practice is to refer all children for specialist assessment.AimTo review outcomes of children with heart murmurs who were referred by general practitioners to a clinic conducted by a paediatrician with expertise in cardiology.Design and settingA retrospective review of children referred by general practitioners to a paediatrician with expertise in cardiology.MethodsHospital records of all children under 17 years of age who attended the clinic during 2011 were reviewed. We excluded children previously seen by any cardiology service.ResultsThere were 313 new primary care referrals, with complete records available for 310 children. Of them, 186 (60%) were referred with a murmur: 154 for an asymptomatic murmur alone, and 32 for a murmur plus additional symptoms or family history of congenital heart disease. All underwent echocardiography. Of the patients, 38 (20%) had congenital heart disease. Younger children were more likely to have congenital heart disease. There was no difference between rates of congenital heart disease in children with or without symptoms or a family history.ConclusionThe finding that a large proportion of children referred by general practitioners with asymptomatic heart murmurs have congenital heart disease supports current referral practice on clinical grounds.

Cardiac involvement in genetic disease

2010 ◽  
pp. 2834-2841
Author(s):  
Thomas A. Traill
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Family History ◽  
Genetic Disease ◽  
Congenital Heart ◽  
Cardiac Involvement ◽  
Atrioventricular Canal ◽  
Marfan's Syndrome ◽  
Atrioventricular Canal Defect ◽  
History Of

Many clinicians find themselves faced, from time to time, with a patient who has a family history of a known disorder, such as Marfan’s syndrome, or who has noncardiac features that suggest a syndrome. Down’s syndrome—25 to 50% have congenital heart disease, most characteristically atrioventricular canal defect....

scholarly journals Incidence and Risk Factors of Congenital Heart Disease in Qingdao: A Prospective Census Study

2020 ◽  
Author(s):  
Xiao Jin ◽  
Wei Ni ◽  
Guoju Li ◽  
Guolan Wang ◽  
Qin Wu ◽  
...  
Keyword(s):  
Risk Factors ◽  
High School ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Family History ◽  
Poisson Regression ◽  
Birth Defect ◽  
Congenital Heart ◽  
High School Degree ◽  
History Of

Abstract Background The incidence of congenital heart disease (CHD) were greatly inconsistent among many studies with a range from 4/1,000 to 50/1,000. A large prospective population study was performed to investigate the incidence and find risk factors of congenital heart disease (CHD) during fetal and neonatal period.Methods A prospective cohort study was conducted in Qingdao, China, from August 1, 2018 to April 30, 2019. All local registered pregnant were continuously investigated and followed from the first trimester to delivery, collecting the characteristics of pregnant and their newborns. A Poisson regression model was applied to assess the association between CHD and possible risk factors.Results The incidence of fetal CHD and neonatal CHD are 15.84 per 1000 fetuses and 7.32 per 1000 live births, respectively. Results from Poisson regression indicated that, countryside (0.821; 95% CI, 0.730-0.920) and first gestation (0.890; 95% CI, 0.813-0.975) was negatively associated with CHD. However, paternal factors such as multi-fetal infants (RR: 1.631, 95% confidence interval, CI: 1.276-2.036), greater than high school degree (1.390; 95% CI, 1.129-1.701), illness in 1st trimester (1.214; 95% CI, 1.080-1.359), family history of CHD (2.480; 95% CI, 1.362-3.967), and having a baby with birth defect before (1.780; 95% CI, 1.300-2.345) were positive associated with CHD.Conclusion The incidence of CHD in Qingdao was similar to existing research. Compared with neonate, the incidence of CHD is higher in fetal. Multi-fetal infants, greater than high school degree, illness in 1st trimester, family history of CHD and having a baby with birth defect before were correlated with an increased risk of CHD. This prospective study would provide great implications for on CHD intervention.

scholarly journals Familial congenital heart disease in Bandung, Indonesia

2013 ◽  
Vol 53 (3) ◽  
pp. 173
Author(s):  
Sri Endah Rahayuningsih
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Dilated Cardiomyopathy ◽  
Congenital Heart ◽  
Family Studies ◽  
Recurrence Risk ◽  
Descriptive Study ◽  
Pedigree Analysis ◽  
Tricuspid Atresia ◽  
History Of

Background Congenital heart disease (CHD) may occur inseveral members of a family. Studies have shown that familialgenetic factor play a role in CHD.Objective To identify familial recurrences of CHD in familieswith at least one member treated for CHD in Dr. Hasan SadikinHospital, Bandung Indonesia.Methods In this descriptive study, subjects were CHD patientshospitalized or treated from January 2005 to December 2011. Weconstructed family pedigrees for five families.Results During the study period, there were 1,779 patients withCHD. We found 5 families with 12 familial CHD cases, consistingof 8 boys and 4 girls. Defects observed in these 12 patients weretetralogy of Fallot, transposition of the great arteries, persistentductus arteriosus, ventricular septa! defect, tricuspid atresia,pulmonary stenos is, and dilated cardiomyopathy. Persistent ductusarteriosus was the most frequently observed defect (4 out of 12subjects) . None of the families had a history of consanguinity. Therecurrence risk of CHD among siblings was calculated to be 0.67%,and the recurrence risk ofCHD among cousins was 0.16%.Conclusion Familial CHD may indicate the need for geneticcounseling and further pedigree analysis.

scholarly journals Double Inlet Left Ventricle with Eisenmenger Syndrome in an Adult – A Case Report

2017 ◽  
Vol 5 (1) ◽  
pp. 53-56
Author(s):  
Rahul Regi Abraham ◽  
Rahul Regi Abraham
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Left Ventricle ◽  
Congenital Heart ◽  
Pulmonary Stenosis ◽  
Eisenmenger Syndrome ◽  
Tertiary Center ◽  
History Of ◽  
Double Inlet Left Ventricle

Background: Patient diagnosed with double inlet left ventricle (prevalent in 5 – 10 in 100,000 newborns) complicated with Eisenmenger syndrome had a median survival age of 14 years without corrective surgery. Congenital heart disease such as this is usually treated by multiple surgeries during early childhood. A surgically uncorrected case in adults is not of common occurrence. Further, generalized itching after coming in contact with water (aquagenic pruritis) presented an interesting conundrum to treat. Case: A 29-year-old patient in India presented at a primary health care center with a history of difficulty breathing and discoloration of extremities since birth. He also gave a history of itching which commonly occurred after taking bath, hemoptysis and history of turning blue in color after birth. Patient had received no treatment besides regular phlebotomies. On examination, there was grade IV clubbing and conjunctival congestion. Cardiovascular examination revealed an enlarged heart, heaving apex beat and a pan-systolic murmur. A provisional diagnosis of a congenital cyanotic heart disease was made. Investigations revealed hemoglobin of 16.8g/dl. X–ray and electrocardiogram showed hypertrophy of the ventricles. An echocardiogram showed double inlet left ventricle with L-malposed vessels but without pulmonary stenosis. A final diagnosis of congenital heart disease; double inlet left ventricle, L-malposed vessels without pulmonary stenosis, Eisenmenger Syndrome and absolute erythrocytosis was made. Patient was advised for further management with a cardiologist in a tertiary center but the patient did not follow up. Conclusion: Unlike in high-income countries where most congenital heart diseases are detected and dealt with at birth whereas low-and middle-income nations often have to deal with cases that present much later and should often be included in the differential diagnosis. Inability to follow up cases, centers that are poorly equipped and lack of facilities for investigations, patient’s lack of medical awareness, and financial restrictions are major barriers to providing optimal treatment.

Abstract 13468: Effect of Listing Criteria on Transplant Rate and Early Outcomes in Adults With Congenital Heart Disease

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Wagih m Zayed ◽  
Neha Bansal ◽  
Snehal R Patel ◽  
Jacqueline M Lamour ◽  
Daniel J GOLDSTEIN ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Primary Diagnosis ◽  
Organ Allocation ◽  
Transplant Recipients ◽  
Allocation Policy ◽  
Kaplan Meier ◽  
Allocation Criteria ◽  
History Of

Introduction: Heart failure (HF) is the leading cause of death in adults with congenital heart disease (ACHD). Heart transplant (HT) is one of the few options for the treatment of advanced HF in this growing population. In October 2018, the United Network for Organ Sharing (UNOS) implemented a change in organ allocation criteria. The effect of this change on outcomes in ACHD patients (pts) after listing and transplant has not been evaluated. Hypothesis: Change in organ allocation criteria negatively impacts outcomes in ACHD patients. Methods: Data from the Scientific Registry of Transplant Recipients in pts age > 18 years old listed for HT between Oct. 2016 and 0ct. 2019 and followed through March 2020 were analyzed. Pts were grouped by diagnosis (ACHD and non-ACHD) and by the time of listing (pre- and post-change in allocation criteria). Differences in comorbidities, outcomes while listed, and 1-year Kaplan Meier survival post-HT were compared among groups. For comparison, post-change criteria (status 1-6) were equated to pre-change criteria (status 1A, 1B, 2). Results: Over 3 years, 11,931 patients were listed for HT; 459 had a primary diagnosis of ACHD. ACHD was present in 279/7942 pts listed in the 2 years pre-change and 180/3989 pts in the year post-change. ACHD pts listed post-change were less likely to have a history of cardiac surgery (88% vs. 79%, p=0.01) and more likely to have an abnormal BMI (p=0.015) than ACHD pts pre-change. Post-change, ACHD pts were listed at a higher priority status compared to pre-change ACHD. (Figure). The proportion of pts transplanted with ACHD increased slightly pre- and post-change (3.7% vs. 4.1%). There was no difference in 1-year survival in ACHD pts transplanted pre- and post-change (Figure). Conclusions: Recent changes to the UNOS organ allocation policy increased the proportion of ACHD patients transplanted with no change in early post-HT survival.

SWEATING IN CONGENITAL HEART DISEASE

PEDIATRICS ◽  
1968 ◽  
Vol 41 (1) ◽  
pp. 123-129
Author(s):  
Blanche P. Alter ◽  
Emily E. Czapek ◽  
Richard D. Rowe
Keyword(s):  
Heart Failure ◽  
Congestive Heart Failure ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Sweat Test ◽  
Endocardial Fibroelastosis ◽  
History Of Or ◽  
History Of ◽  
Sweat Tests

Sweating was found to be increased in children with congenital heart disease who had a propensity to congestive heart failure, e.g., children with endocardial fibroelastosis or large or moderate sized left-to-right shunts. This was suggested in a review of cardiac clinic records of 220 patients and was supported by the results of pilocarpine sweat tests which were performed on 34 cardiac patients. By history and by measurement of the amount of sweat produced, children with a history of or tendency toward heart failure could be predicted though patients did not need to be in failure when tested. Contrary to previous opinion, the left-to-right shunt was not in itself sufficient to cause the child to sweat. The shunt had to be large enough to be associated with failure at some time. It is suggested that the pilocarpine sweat test might actually be useful as an aid in predicting a child's potential for heart failure. Several theories regarding the mechanism of sweating in these situations are discussed.

Conotruncal Malformation Complex: Examples of Possible Monogenic Inheritance

PEDIATRICS ◽  
1979 ◽  
Vol 63 (6) ◽  
pp. 890-893
Author(s):  
Marvin E. Miller ◽  
David W. Smith
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Family History ◽  
Congenital Heart ◽  
Recurrence Risk ◽  
Strong Family History ◽  
Cardiac Defects ◽  
Monogenic Inheritance ◽  
Congenital Cardiac Defects ◽  
Malformation Complex

Two families are described in which there is possible monogenic inheritance of congenital cardiac defects within the spectrum of faulty conotruncal septation (CTS). Evidence for a genetic control of conotruncal septation arises from genetic and embryologic studies of similar defects in the Keeshond dog model, the excess of sibship pairs with conotruncal septation defects in sibship pairs with congenital heart disease, and previously reported pedigrees of families with multiple affected individuals with conotruncal septation defects. It is suggested that in the small number of cases of congenital cardiac defects in which there is a strong family history for CTS defects, a higher recurrence risk should be considered rather than the usual polygenic recurrence risk of 3% that is usually given in such situations.

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