scholarly journals A Rare Double Aneuploidy Case (Down–Klinefelter)

2017 ◽  
Vol 06 (04) ◽  
pp. 241-243 ◽  
Author(s):  
Atil Bisgin ◽  
Sevcan Bozdogan
Keyword(s):  
Septal Defect ◽  
Case Reports ◽  
Ductus Arteriosus ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
A Current ◽  
Patent Ductus ◽  
Double Aneuploidy

AbstractDown's syndrome has its own dysmorphic findings and is accompanied by mental retardation and hypotonia. Klinefelter's syndrome is a syndrome caused by a numerical abnormality that affects male physical and cognitive development. This case reports a unique finding of 48,XXY, + 21 and a current literature review. A 4-month-old male patient presented with typical clinical features of Down's syndrome with hypothyroidism, atrial septal defect, ventricular septal defect, and patent ductus arteriosus without any phenotypic signs of Klinefelter's syndrome.

Down's Syndrome and Heart Surgery

PEDIATRICS ◽  
1978 ◽  
Vol 61 (2) ◽  
pp. 331-331 ◽  
Author(s):  
Murray Feingold
Keyword(s):  
Congenital Heart Disease ◽  
Death Rate ◽  
Congenital Heart ◽  
Heart Surgery ◽  
Septal Defect ◽  
Ductus Arteriosus ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Corrective Surgery ◽  
Patent Ductus

The article by Greenwood and Nadas (Pediatrics 58:893, December 1976) may be misinterpreted. It states that the death rate in children with Down's syndrome and congenital heart disease is high. Although this is indeed true, the fact that the majority of these patients did not have corrective surgery must account for some of the high mortality. For example, of the ten patients with an isolated patent ductus arteriosus, six were not corrected. Also, 61 of the 66 patients with ventricular septal defect (VSD) did not have surgery.

Klinefelter's syndrome, Down's syndrome (Mongolism), and twinning in the same sibship

1963 ◽  
Vol 62 (2) ◽  
pp. 217-224 ◽  
Author(s):  
S.W. Wright ◽  
R.W. Day ◽  
H.D. Mosier ◽  
Audrey Koons ◽  
Helga Mueller
Keyword(s):  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome

scholarly journals Right-sided infective endocarditis in patients with uncorrected ventricular septal defect and patent ductus arteriosus: Two case reports

2018 ◽  
Vol 6 (11) ◽  
pp. 2168-2173 ◽  
Author(s):  
Prenali Dwisthi Sattwika ◽  
Anggoro Budi Hartopo ◽  
Dyah Wulan Anggrahini ◽  
Hasanah Mumpuni ◽  
Lucia Kris Dinarti
Keyword(s):  
Infective Endocarditis ◽  
Ventricular Septal Defect ◽  
Patent Ductus Arteriosus ◽  
Septal Defect ◽  
Case Reports ◽  
Ductus Arteriosus ◽  
Patent Ductus

Cleft of the mitral valve in patients with Down's syndrome

2002 ◽  
Vol 12 (1) ◽  
pp. 27-31 ◽  
Author(s):  
Alain Fraisse ◽  
Tony Abdel Massih ◽  
Damien Bonnet ◽  
Daniel Sidi ◽  
Jean Kachaner
Keyword(s):  
Mitral Valve ◽  
Ventricular Septal Defect ◽  
Atrial Septal Defect ◽  
Septal Defect ◽  
Surgical Repair ◽  
Ductus Arteriosus ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Atrioventricular Septal Defect ◽  
Atrial Septal Defect Closure

Differentiation between a cleft of the mitral valve and the cleft of the left side of an atrioventricular septal defect – a lesion commonly found in patients with Down's syndrome – is surgically important since the distribution of the conduction tissue varies between the 2 lesions. We sought to determine if cleft of the mitral valve occurs also in patients with Down's syndrome. We studied 5 patients with Down's syndrome and cleft of the mitral valve followed in our institution. Echocardiography showed in all 5 patients a cleft dividing the anterior (aortic) leaflet of mitral valve with normal papillary muscle position, mural leaflet size, and ratio of the inlet/outlet dimension of the left ventricle. Associated cardiac lesions were present in all 5 patients: perimembranous ventricular septal defect in 3, ostium secundum atrial septal defect in 2 and patent ductus arteriosus in 2 patients. During the 5.6 years (0.2–11) of the follow-up period, surgical repair of the cleft was never indicated since the mitral regurgitation through the cleft remained mild or absent in all the patients. Two patients underwent closure of a ventricular septal defect, with atrial septal defect closure in one and ductal ligation in 2. One patient died suddenly at home, without evidence of a cardiac cause. In conclusion, a cleft of the mitral valve has important developmental and morphologic differences with atrioventricular septal defect and may occur in patients with Down's syndrome. If surgical repair of the cleft or of associated cardiac lesion is indicated, it is necessary to distinguish it from atrioventricular septal defect where the conduction axis is displaced posteriorly and may be exposed during surgery.

Trans-catheter closure of large PDA in adult patients with Amplatzer device: case series

2021 ◽  
pp. 1-4
Author(s):  
Zahra Khajali ◽  
Ata Firouzi ◽  
Homa Ghaderian ◽  
Maryam Aliramezany
Keyword(s):  
Ventricular Septal Defect ◽  
Patent Ductus Arteriosus ◽  
Septal Defect ◽  
Ductus Arteriosus ◽  
Diagnostic Methods ◽  
Adult Patients ◽  
Amplatzer Device ◽  
Occluder Device ◽  
Catheter Closure ◽  
Patent Ductus

Abstract Ductus arteriosus is a physiological structure if not closed after birth, may lead to many complications. Today, trans-catheter closure of patent ductus arteriosus with Occluder devices is the preferred method. Surgical ligation is used only in certain cases such as large symptomatic patent ductus arteriosus in very small infants and premature babies; unfavourable structure of the duct or economic considerations. In this article, we described haemodynamic and morphological characteristics of five patients with large patent ductus arteriosus which were occluded with Amplatzer device. From 23 January, 2010 to 31 July, 2018, five patients referred to our clinic with large patent ductus arteriosus and pulmonary arterial hypertension for further evaluation. After assessing them with various diagnostic methods, we decided to close defect with ventricular septal defect Occluder device. Patients aged 21–44 years and one of them was male. Ductus closure was successfully done with ventricular septal defect Occluder device. Closure was successful for all of them but in one case, whose device was embolized to pulmonary artery after 24 hr and he underwent surgery. Trans-catheter closure of large patent ductus arteriosus in adult patients with pulmonary hypertension is feasible. Despite the fact that complications may occur even with the most experienced hands, the ‘double disk’ Amplatzer ventricular septal defect muscular Occluder could be advantageous in this setting.

Limb ischaemia and below-knee amputation following life-saving patent ductus arteriosus stent in a critically ill infant

2014 ◽  
Vol 25 (6) ◽  
pp. 1206-1209
Author(s):  
Apinya Bharmanee ◽  
Srinath Gowda ◽  
Harinder R. Singh
Keyword(s):  
Ventricular Septal Defect ◽  
Patent Ductus Arteriosus ◽  
Septal Defect ◽  
Ductus Arteriosus ◽  
Limb Ischaemia ◽  
Knee Amputation ◽  
Pulmonary Flow ◽  
Life Saving ◽  
Acute Limb Ischaemia ◽  
Patent Ductus

AbstractLimb ischaemia is a rare but catastrophic complication related to cardiac catheterisation. We report an infant weighing 3 kg with unrepaired tricuspid atresia type 1b, small patent ductus arteriosus, and ventricular septal defect presenting with cardiogenic shock owing to progressively reduced pulmonary blood flow from closing ventricular septal defect and patent ductus arteriosus. An emergency palliative ductal stent was successfully placed with marked clinical improvement. However, acute limb ischaemia developed necessitating above-knee amputation, despite medical management and vascular surgery. The cause of limb loss in our patient was catheterisation-related vascular injury causing arterial dissection–arterial thrombosis in the presence of shock and coagulopathy. This report emphasises the complexity in managing limb ischaemia associated with coagulopathy and highlights the importance of early recognition of reduced pulmonary flow in a single ventricle patient. Timely elective placement of a surgical systemic to pulmonary shunt would prevent catastrophic clinical presentation of compromised pulmonary flow and avoid the need for an emergent life-saving intervention and its associated complications.

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