Cardiac defects in turnerian patients

2020 ◽  
Author(s):  
Nisrine Bouichrat ◽  
Ikram Mahroug ◽  
Achwak Alla ◽  
Rouf Siham ◽  
Hanane Latrech
Keyword(s):  
Cardiac Defects

Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome

2008 ◽  
Vol 14 (1) ◽  
pp. 35-42 ◽  
Author(s):  
Adriano Carotti ◽  
Maria Cristina Digilio ◽  
Gerardo Piacentini ◽  
Claudia Saffirio ◽  
Roberto M. Di Donato ◽  
...  
Keyword(s):  
Cardiac Surgery ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Cardiac Defects

Holt–Oram syndrome: novel TBX5 mutation and associated anomalous right coronary artery

2011 ◽  
Vol 21 (3) ◽  
pp. 351-353 ◽  
Author(s):  
Caio B. Vianna ◽  
Nana Miura ◽  
Alexandre C. Pereira ◽  
Marcelo B. Jatene
Keyword(s):  
Coronary Artery ◽  
Right Coronary Artery ◽  
Initial Segment ◽  
Septal Defect ◽  
Pulmonary Arteries ◽  
Cardiac Defects ◽  
Tbx5 Gene ◽  
Anomalous Coronary ◽  
Anomalous Coronary Arteries ◽  
Splicing Site

AbstractThe Holt–Oram syndrome was confirmed in an asymptomatic 36-year-old man by a novel TBX5-gene mutation (exon 8 acceptor splicing site, c.663-1G greater than A). Computed tomography showed an atrial septal defect and an anomalous right coronary artery crossing between the aorta and pulmonary arteries. Surgery corrected the septal defect and the initial segment of the anomalous vessel was unroofed and enlarged. Anomalous coronary arteries were not previously described in the Holt–Oram syndrome patients and should be added to the list of possible associated cardiac defects.

PHACES: a neurocutaneous syndrome with anomalies of the aorta and supraaortic vessels

2004 ◽  
Vol 14 (2) ◽  
pp. 206-209 ◽  
Author(s):  
Gerald Wendelin ◽  
Erwin Kitzmüller ◽  
Ulrike Salzer-Muhar
Keyword(s):  
Aortic Arch ◽  
Posterior Fossa ◽  
Coarctation Of The Aorta ◽  
Cardiac Defects ◽  
Vascular Abnormalities ◽  
Great Vessels ◽  
Neurocutaneous Syndrome ◽  
The Brain ◽  
Supraaortic Vessels ◽  
Arterial Anomalies

The acronym PHACES summarizes the most important manifestations of a rare neurocutaneous syndrome. Specifically, “P” accounts for malformation of the brain in the region of the posterior fossa, “H” stands for haemangiomas, “A” is for arterial anomalies, and “C” is for coarctation of the aorta along with cardiac defects, “E” is for abnormalities of the eye, and “S” for clefting of the sternum, and/or a supraumbilical abdominal raphe. Our objective is to introduce the syndrome to paediatric cardiologists. Our patient has stenosis of the aortic arch, multiple malformations of the great vessels arising from the aortic arch, intracranial vascular abnormalities, a sternal malformation with a supraumbilical raphe, and facial haemangiomas. We stress that it is important always to consider the existence of this syndrome in all patients with facial haemangiomas.

Klippel–Feil syndrome and levo-looped transposition of the great arteries

2014 ◽  
Vol 25 (3) ◽  
pp. 591-593 ◽  
Author(s):  
Efrén Martínez-Quintana ◽  
Fayna Rodríguez-González
Keyword(s):  
Congenital Heart ◽  
Cervical Vertebrae ◽  
Coarctation Of The Aorta ◽  
Syndrome Type ◽  
Short Neck ◽  
Cardiac Defects ◽  
Lung Lobe ◽  
Lung Agenesis ◽  
Skeletal Disorder ◽  
Anomalous Pulmonary Venous Connection

AbstractKlippel–Feil syndrome is a skeletal disorder characterised by low hairline and a short neck due to abnormal fusion of two or more cervical vertebrae. Although congenital heart and lung defects are infrequent, some abnormalities such as cor triatriatum, coarctation of the aorta, total anomalous pulmonary venous connection, or lung agenesis have been reported. The challenge of recognising Klippel–Feil syndrome lies in the fact that there is an association of this syndrome with other significant conditions such as skeletal, genitourinary, neurological, ear, and some cardiac defects. We report a Klippel–Feil syndrome type III 14-year-old patient with a levo-looped transposition of the great arteries. In addition, the patient had agenesis of the left upper-lung lobe.

scholarly journals Effects of the size of lesions of the cardiac neural crest at various embryonic ages on incidence and type of cardiac defects.

Circulation ◽  
1986 ◽  
Vol 73 (2) ◽  
pp. 360-364 ◽  
Author(s):  
W T Besson ◽  
M L Kirby ◽  
L H Van Mierop ◽  
J R Teabeaut
Keyword(s):  
Neural Crest ◽  
Cardiac Defects ◽  
Cardiac Neural Crest

Long-term results of treatment of patients with limb arterial embolism

1986 ◽  
Vol 67 (4) ◽  
pp. 300-300
Author(s):  
I. I. Strelnikov
Keyword(s):  
Myocardial Infarction ◽  
Causes Of Death ◽  
Long Term Results ◽  
Peripheral Artery ◽  
Arterial Embolism ◽  
Cardiac Defects ◽  
Results Of Treatment ◽  
Artery Embolism ◽  
Conservative And Surgical Treatment

We followed the fate of 166 patients with limb arterial embolism in the late stage of the disease after conservative and surgical treatment from 6 months to 10 years. Of 166 patients, 44 (26.5%) died after hospital discharge. Thirty of them were older than 61 years. The most frequent causes of death in the long-term period were acute cerebrovascular disease (11), myocardial infarction (7), progressive cardiovascular insufficiency due to cardiac defects (6), repeated peripheral artery embolism causing limb gangrene (7). In 7 patients the cause of death was not determined.

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