Coarctation and/or hypoplasia of the thoracic aorta along with aortic valve anomalies are sometimes present. Intracranial and intraspinal lipomas are present in over 60% of individuals. [disorders.eyes.arizona.edu]

X-linked dominant A 2 year old male presented with growth and maturation retardation and splenomegaly. [quizlet.com]

When symptoms are present, easy fatigability is the most common symptom. The most common presenting physical sign is a heart murmur. Less commonly, exertional angina is present but this is typically only seen with severe obstruction. [clinicaladvisor.com]

[…] with anterior pain) arch aorta ⇒ pain in neck & jaw desc. aorta ⇒ interscapular pain (32% of Type A dissections present with posterior chest pain) infradiaphragmatic aorta ⇒ lumbar/abdominal pain (47% of Type A and 64% of Type B present with back pain [ozemedicine.com]

This finding presented a unique case of a recessive mutation in a gene normally associated with a dominant phenotype. [cags.org.ae]

• Anemia

  A newborn is diagnosed with congenital intrinsic factor deficiency. which of the following types of anemia will the nurse see documented on the chart a. iron deficiency anemia b. pernicious anemia c. siderblastic anemia d. hemolytic anemia A 6 year old [quizlet.com]

  Seeler RA, Royal JE, Powe L, Goldbarg HR: Moyamoya in children with sickle cell anemia and cerebrovascular occlusion. J Pediatr 1978;93:808–810. Stockman JA, Nigro MA, Mishkin MM, Oski FA: Occlusion of large cerebral vessels in sickle-cell anemia. [karger.com]

  Fanconi Anemia Autosomal Recessive congenital pancytopenia. Normocytic anemia with neutropenia. Short stature, microcephaly, hypogenitalism, strabismus, anomalies of the thumbs, radii, and kidneys, mental retardation, and microphthalmia. [kumc.edu]

  Congenital hypoplastic anemia of Blackfan and Diamond RPS19, RPL5, RPS10, RPL11, RPL35A, RPS26, RPS24, RPS17, RPS7, RPL26, GATA1 mutation VSD, ASD, coarctation of aorta Microcephaly, dysmorphic, ophthalmologic anomalies, webbed neck, upper-limb and hand [thoracickey.com]

• Weight Gain

  AIDS What is a priority assessment for hodgkin lymphoma in children a. painless adenopathy in cervical nodes b. significant bruising c. weight gain d. petechiae A. painless adenopathy in cervical nodes Which laboratory test will assist the nurse in identifying [quizlet.com]

• Respiratory Distress

  distress syndrome Congenital rubella infection History of sibling with PDA Several genetic disorders (see “Genetics”) General Prevention Routine prophylaxis of newborns is not recommended because it has not shown to improve mortality and other outcomes [unboundmedicine.com]

  distress, chronic airway infection, recurrent sinus infection, recurrent ear infection, infertility Yes, panel available Autsomal recessive Roberts syndrome Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, SC-phocomelia syndrome ESCO2 mutation [thoracickey.com]

  […] failure Intestinal malrotation Congenital diaphragmatic hernia Transient ischemic attack Renal hypoplasia Abnormality of the kidney Pectus carinatum Severe short stature Abnormal lung morphology Hernia Respiratory distress Respiratory insufficiency Hypoplasia [mendelian.co]

• Cyanosis

  […] likely accompany this diagnosis a. huntington disease b. color blindness c. down syndrome d. hemophilia A newborn is diagnosed with tetralogy of fallot. what symptoms would the nurse expect to observe in the child a. high-pitched cry and dyspnea b. cyanosis [quizlet.com]

  Differential cyanosis. Ejection systolic murmur at precardium & between scapula Slide 19: 2. [authorstream.com]

  The other risk factors were: poor functional class (NYHA classification more than II); cyanosis before pregnancy (oxygen saturation less than 90%); pre-conception cardiac events such as stroke, transient ischemic attack, pulmonary edema, and symptomatic [ecrjournal.com]

  Pulmonary arteriovenous malformation In the presence of clinical cyanosis, transcatheter closure is the treatment of choice for individual pulmonary AVM. The choice of closure device depends entirely on the size and location of the AVM to be closed. [thecardiologyadvisor.com]

• Left Ventricular Dysfunction

  Since they often present in heart failure, medical therapy to augment ventricular contractility and help with diuresis in the case of left ventricular dysfunction is often instituted. [clinicaladvisor.com]

  A subset of Marfan patients does have intrinsic ventricular impairment and this is often unmasked during pregnancy, with further left ventricular dilatation and symptomatic ventricular ectopy. [obgynkey.com]

  The most significant predictor was left ventricular dysfunction (defined as an ejection fraction below 40%). [ecrjournal.com]

• Muscle Cramp

  Muscle cramps, muscle weakness, easy fatigability. Myoglobinuria with strenuous exercise. [kumc.edu]

• Headache

  Also, approximately 3% to 5% of patients with migraine headaches with aura have been found to have a pulmonary AVM. [thecardiologyadvisor.com]

  Hypertension in the upper part of the body results in left ventricular hypertrophy and may produce dizziness, headaches, and nosebleeds. [cags.org.ae]

  (9%) and arteries in extremities (5%) Clinical features Symptoms occur when lesions are tightly stenotic producing hypoperfusion, if an associated aneurysm ruptures, if lesions embolize, thrombose or dissect Presenting symptoms include hypertension, headache [pathologyoutlines.com]

  New or unusual headaches because of the possibility of berry aneurysms. Late dissection proximal or distal to the repair site. [cachnet.org]

  Childhood, Adolescence and adult * Asymptomatic with normal growth * Intermittent claudication * weak & delayed/ absent femoral pulses * Hypertension (90%) &its complications Headache/ epistaxis/ visual disturbances/ excertional dyspnea * Cardiomegaly [authorstream.com]

Part IV - Diagnostic Recommendations An initial diagnostic workup should document: The location and type of aortic coarctation together with its severity. [cachnet.org]

• Ventricular Hypertrophy

  hypertrophy) with pulmonary atresia and pulmonary artery hypoplasia. [pinterest.de]

  Hypertension in the upper part of the body results in left ventricular hypertrophy and may produce dizziness, headaches, and nosebleeds. [cags.org.ae]

  Left ventricular function and the presence (or absence) of left ventricular hypertrophy. [cachnet.org]

  Electrocardiography will demonstrate abnormal findings of left ventricular hypertrophy in up to 30% of children with significant stenosis, but may be normal in children with less severe disease. [clinicaladvisor.com]

  hypertrophy, peripheral pulmonary stenosis Dysmorphic, hand/foot anomalies, pectus abnormality, rib deformities, short stature, ectodermal defects, GU anomalies, GI anomalies, brain anomalies Yes Autosomal recessive Diamond-Blackfan anemia Congenital [thoracickey.com]

The first chapter stresses the etiology and pathophysiology of childhood stroke as the basis for evaluations and treatment. [books.google.com]

Treatment Treatment Options: There is no treatment for the overall condition but selective removal of tumors with cosmetic and pressure consequences should be considered. [disorders.eyes.arizona.edu]

[…] and guides Find conditions and treatments Live well Articles, videos and tools from the NHS on more than 100 topics, including alcohol, diet, fitness, tiredness and weight loss, giving you and your family tips on healthy living. [modalitypartnership.nhs.uk]

Prognosis depends on the treatment chosen (Table II). Table II. [clinicaladvisor.com]

Role of transcatheter therapy in the treatment of coarctation of the aorta. J Invasive Cardiol 2008; 20:660–663. 46. Beckett NS, Peters R, Fletcher AE, et al. Treatment of hypertension in patients 80 years of age or older. [journals.lww.com]

Prognosis Prognosis is variable and depends on the presence and severity of associated cardiovascular, neurological and other complications. [patient.info]

Prognosis depends on the treatment chosen (Table II). Table II. [clinicaladvisor.com]

The adult form classically occurred in juxtaductal or postductal locations and was associated with a better prognosis. This distinction now seems to be imprecise and is of little relevance, with both forms of coarctation presenting at various ages. [mhmedical.com]

[…] increased aortic stiffness excessive aortic root dilatation (>1.7 mm/year) arterial dissection aortic valve regurgitation (AR) aortic coarctation pulmonary arterial dilatation Pulmonary spontaneous pneumothorax lung cysts and bullae formation Treatment and prognosis [radiopaedia.org]

The main predictors of unfavorable prognosis in that group of patients are arterial hypertension (AH) with subsequent end-organ damage, and an inclination for development of early atherosclerosis [ 1, 2, 3, 4, 5, 6, 7, 8 ]. [link.springer.com]

The first chapter stresses the etiology and pathophysiology of childhood stroke as the basis for evaluations and treatment. [books.google.com]

[…] dermatopathology and pathology + Atlas of fetal pathology + Congenital malformations + Physiological developement of an embryo and fetus, growth and changes of the external shape + Congenital malformations and congenital anomalies + Basic terminology + Etiology [atlases.muni.cz]

Epidemiology Incidence: 2/1,000 in term births and 8/1,000 in premature live births Predominant sex: female > male (2:1 in term births) Etiology and Pathophysiology The fetal DA is kept open by low arterial oxygen content, increased resistance in the [unboundmedicine.com]

The etiology of non-syndromic CoA is poorly understood. In the present work, we test the hypothesis that rare copy number variation (CNV) especially on the gonosomes, contribute to the etiology of non-syndromic CoA. [journals.plos.org]

Name of condition Other names Etiology Type of heart defect Associated features Testing available Inheritance Structural defects Septal defects 2q37 Deletion syndrome Albright hereditary osteodystrophy-like syndrome, brachydactyly mental retardation syndrome [thoracickey.com]

Epidemiology Incidence is approximately 1 in 35,000 to 1 in 56,000 births. However, the incidence is higher (around 1 in 1,000) in those children with congenital deafness. [ 1 ] The male:female ratio is 3:2. Most cases are sporadic. [patient.info]

Epidemiology Incidence: 2/1,000 in term births and 8/1,000 in premature live births Predominant sex: female > male (2:1 in term births) Etiology and Pathophysiology The fetal DA is kept open by low arterial oxygen content, increased resistance in the [unboundmedicine.com]

Epidemiology BAV is the most common congenital heart defect. True incidence is unknown because it is clinically silent, but it is estimated to be present in 1%-2% of the general population. [clinicaladvisor.com]

[…] surgery only 50-70% will be alove 5 years after surgery 2-3 x as many people die from aortic dissection as they do from ruptured AAA 1) poor prognostic factors 2) : age > 65 yrs Type A dissection BP < 90mmHg neutrophilia > 80% elevated D-Dimer > 5mg/L epidemiology [ozemedicine.com]

Morphological, Epidemiological, and Hereditary Aspects of Congenital Aortic Stenosis Congenital obstruction of the LVOT may involve the subvalvular, valvular, or supravalvular part of the outflow tract complex. [ecrjournal.com]

The first chapter stresses the etiology and pathophysiology of childhood stroke as the basis for evaluations and treatment. [books.google.com]

Dilated left subclavian artery Coarctation of Aorta: Coarctation of Aorta Evolution Pathophysiology: Pathophysiology Narrowed aorta increased LV after load & wall stress LVH CHF Systemic perfusion is dependent on the ductal flow and collateralization [authorstream.com]

Patients with dissecting and fusiform aneurysms were excluded because these lesions are associated with a distinct natural history and pathophysiology compared with saccular aneurysms (20 patients). [ajnr.org]

Epidemiology Incidence: 2/1,000 in term births and 8/1,000 in premature live births Predominant sex: female > male (2:1 in term births) Etiology and Pathophysiology The fetal DA is kept open by low arterial oxygen content, increased resistance in the [unboundmedicine.com]

Pathophysiology: There are three different mechanisms by which EDS traits are produced 6. The first of these features is a deficiency of collagen-producing enzymes, such as lysyl-hydroxylase and procollagen peptidase. [rarediseasesindia.org]

Post coarctomy syndrome (20%) Mesenteric ischemia d/t necrotizing mesenteric arteritis Caused by increased renin levels presents as acute abdomen a/w paradoxical hypertension can be prevented by aggressive therapy of hypertension 3. [authorstream.com]

How can aortic stenosis be prevented? No primary prevention or prophylaxis is available at this time for aortic stenosis. Behavioral factors are not immediately relevant, as behavior does not cause this disease. [clinicaladvisor.com]

SBE can usually be prevented by taking an antibiotic before these procedures How is the problem diagnosed? Symptoms: Bicuspid aortic valve without aortic stenosis does not cause any symptoms. [chd-uk.co.uk]

[…] syndrome), PTPN11 (Noonan syndrome), MYH11 (TAAD/PDA) Risk Factors Premature birth (specially Birth at high altitude Respiratory distress syndrome Congenital rubella infection History of sibling with PDA Several genetic disorders (see “Genetics”) General Prevention [unboundmedicine.com]

Closure of pulmonary AVMs to prevent recurrent paradoxical embolization and migraine headache remain unproven, similar to PFO closure. [thecardiologyadvisor.com]