Congenital Heart Disease: Molecular Diagnostics of Supravalvular Aortic Stenosis

SUMMARYPalm-print and finger-print patterns were studied in a series of 330 patients with congenital heart disease and compared to a control group of 200 patients with acquired heart disease.156 patiens had associated malformations, while 174 other patients had isolated heart disease. Both groups were studied separately.Simian creases are more frequent in the malformed patients than in the controls, but the difference is only significant in patients with multiple malformations.A triradius in the positions t' is seen with a higher frequency in patients with multiple malformations and in patients with isolated heart disease than in the controls. The position t” however is only more frequent in the group of patients with multiple malformations, and tends to be associated more often with a ventricular septal defect and Fallot's tetralogy than with an atrial septum defect, aortic stenosis, coarctation and patent ductus.Hypothenar patterns are more frequent in patients than in controls.The results concerning finger-print patterns show a diminished frequency of arches in patients with isolated heart disease compared with controls and patients with multiple malformations. Variations between the different types of congenital heart disease were not important. They are partly in agreement, partly in disagreement with the results of other authors.21 patients with familial congenital heart disease show an increased frequency of ulnar loops and a low frequency of whorls compared to the rest of patients.This study does not include classical chromosomal aberrations and no malformation syndromes besides the Holt-Oram syndrome and the supravalvular aortic stenosis syndrome. The first one is characterised by an increased frequency of axial triradius in the t” position and of simian creases, while the second one seems to be without any dermatoglyphic particularity.

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Prevalence and Spectrum of Complex Congenital Heart Disease in the Neonatal Intensive Care Unit at high Altitude in China

10.21203/rs.3.rs-62194/v1 ◽

2020 ◽

Author(s):

Jing-Jing Li ◽

Xiao-Rong Wang ◽

Yuan Liu ◽

Guo-Dong Zhao ◽

Ting Dai ◽

...

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Aortic Stenosis ◽

High Altitude ◽

Congenital Heart ◽

Septal Defect ◽

Severe Aortic Stenosis ◽

Pulmonary Stenosis ◽

Complex Congenital Heart Disease ◽

Anomalous Pulmonary Venous Connection

Abstract Background: Previous studies from high altitudes have reported significantly higher prevalence of congenital heart disease (CHD), consisting almost solely of simple CHD. Little is known about the occurrence of complex CHD. Neonates with complex CHD are likely admitted to NICU. We examined the prevalence and spectrum of complex CHD in NICU in order to depict a truer picture of CHD at high altitude.Methods: We reviewed charts of 4,214 neonates admitted to NICU in Qinghai province (average altitude 3,000m). Echocardiography was performed in 1,943 babies when CHD was suspected based on clinical examinations.Results: CHD was diagnosed in 1,093(56.3% of echoed babies). Mild CHD in 96.8%(1058 babies). Moderate CHD in 0.8%(9) included 1(0.1%) large secundum atrial septal defect, 3(0.3%) moderate pulmonary stenosis, 2(0.2%) aortic stenosis and 3(0.3%) partial anomalous pulmonary venous connection. Severe CHD in 2.4%(26) included 6(0.5%) complete atrioventricular septal defect, 5(0.5%) complete transposition of the great arteries, 5(0.5%) hypoplastic right heart, 3(0.3%) hypoplastic left heart, 3(0.3%) double outlet right ventricle, 3(0.3%) tetralogy of Fallot, 2(0.2%) truncus arteriosus, 2(0.2%) total anomalous pulmonary venous connection, 2(0.2%) severe aortic stenosis, 2(0.2%) Interrupted aortic arch and 2(0.2%) severe pulmonary stenosis and 1(0.1%) single-ventricle abnormality. At two-years follow-up in 737(67.4%) patients, 18(90%) with severe CHD and 38(5.3%) with mild and moderate CHD died, and 15 underwent cardiac surgery with 1 early death.Conclusions: At high altitude, a wide spectrum of CHD exists, with many heretofore unreported complex CHD. There is urgent need for routine echocardiography and early interventions in newborns particularly in NICU.

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Vectorcardiography in Congenital Heart Disease: A Method for Estimating Severity, by R. Curtis Ellison, M.D., and Norma J. Restieaux, M.B., Ch.B., F.R.A.C.P., M.R.C.P. (London) with a forward by Alexander S. Nadas, M.D. Philadelphia/London/Toronto: W. B. Saunders Company, 1972, 209 pp., $13.50

PEDIATRICS ◽

10.1542/peds.52.4.631a ◽

1973 ◽

Vol 52 (4) ◽

pp. 631-631

Author(s):

Catherine A. Neill

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Aortic Stenosis ◽

Congenital Heart ◽

Reference Book ◽

Special Interests ◽

Congenital Lesions ◽

Good Review ◽

Cardiac Lesions ◽

Noninvasive Assessment

This beautifully produced book not only shows excellent examples of specific congenital lesions and discusses them in an erudite manner, but also refers to the literature in a comprehensive way. It, therefore, will become a necessary reference book for anyone working in the field of the noninvasive assessment of severity of congenital cardiac lesions. As might be expected from the special interests of the Boston group, the chapter on aortic stenosis is outstanding and provides excellent examples and a good review of the problem.

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Adult Congenital Heart Disease

10.1093/med/9780198713623.003.0013 ◽

2016 ◽

Author(s):

Patrizio Lancellotti ◽

Bernard Cosyns

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Aortic Stenosis ◽

Congenital Heart ◽

Adult Congenital Heart Disease ◽

Ductus Arteriosus ◽

Haemodynamic Effect ◽

Septal Defects ◽

Adult Congenital

Echocardiography has a fundamental role in patients with adult congenital heart disease. This chapter identifies the role of echocardiography in atrial septal defects, ventricular septal defects, atrioventricular septal defects, patent ductus arteriosus, and persistent left superior vena cava. For each condition, the role of transthoracic and transoesophagael echocardiogram are shown alongside examples of main types and features and haemodynamic effect. Echocardiographic findings of LV outflow tract obstruction, supravalvular aortic stenosis, aortic stenosis, and aortic coarction are covered, as well as an examination of complex congenital lesions, including the tetralogy of Fallot and Ebstein’s anomaly of the tricuspid valve.

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Ebstein's anomaly of tricuspid valve with aortic stenosis and coarctation of aorta: Successful single‐stage repair of a rare adult congenital heart disease

Journal of Cardiac Surgery ◽

10.1111/jocs.15004 ◽

2020 ◽

Vol 35 (11) ◽

pp. 3160-3165

Author(s):

Anand Kumar Mishra ◽

Parag Barwad ◽

Vidur Bansal ◽

Banashree Mandal ◽

Ayush Srivastava ◽

...

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Aortic Stenosis ◽

Tricuspid Valve ◽

Congenital Heart ◽

Adult Congenital Heart Disease ◽

Single Stage ◽

Ebstein’S Anomaly ◽

Coarctation Of Aorta ◽

Adult Congenital

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Supravalvulaire Aortic Stenosis: Case Report

10.36811/jcri.2020.110015 ◽

2020 ◽

pp. 07-11

Author(s):

Redha Lakehal ◽

Soumaya Bendjaballah ◽

Khaled Khacha ◽

Baya Aziza ◽

Abdelmallek Brahami

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Left Ventricle ◽

Aortic Stenosis ◽

Coronary Sinus ◽

Congenital Heart ◽

Surgical Techniques ◽

Dacron Patch ◽

Aortic Root Enlargement ◽

One Year

Introduction: Exceptional congenital heart disease (1 for 26000 birth) characterized by rétrécissement of aortic light. It can be isolated or part of William syndrome. The diagnosis is based on echocardiography. The intervention consists of an aortic root enlargement with Dacron patch. Surgery was indicated if gradient aortic left ventricle Superior of 50 mm hg. This clinical case is for us an opportunity to recall of this type of congenital aortic retrécissement. Methods: We reported the observation of patient 17-year-old without history presented since one-year dyspnea on exersion, palpitation and syncopes. Physical examination: murmur systolic in aortic home without other abnormalities. Chest X ray: CTI: 0.48., ECG: RSR with HVL. Echocardiography: supravalvulaire aortic stenosis; mean gradient AO-LV: 46 mm hg, LV -aortic; LV 48/26 mm + HLV, RV: 20 mm. Exploration per-opératoire: hipoplasie of the left coronary sinus, anomaly of implantation of antero -external pillar of mitral valve, aortic bicuspidie type 1, absence of coronary anomalies. It has benefit under cardio-pulmonary bypass an enlargement of the left coronary sinus according to DOTY technique with Dacron patch and conservation of aortic valve. Results: The immediate post-operative suites were favoured with gradient aortic –left ventricle drop to 20 mm hg. Conclusion: This is very rare congenital heart disease; echocardiography remains the key of diagnosis. It must be operated early. The prognostic is enhanced by the advances in surgical techniques. The treatment consists of surgery. Keywords: Supravalvulaire aortic stenosis; Surgery; Cardiopulmonary bypass

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