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==Echocardiography/Ultrasound==
==Echocardiography/Ultrasound==


There are no echocardiography/ultrasound findings associated with [disease name].
*Turner syndrome may be diagnosed or suspected prenatally because of an ultrasonography showing a left-sided cardiac defect, renal anomalies, growth retardation, relatively short limbs, fetal edema, cystic hygroma, polyhydramnios, brachycephaly.
*Renal ultrasound for structural abnormalities like duplication of the collecting system and horseshoe shaped kidney.
**Echocardiography for cardiac structural abnormalities especially aortic dilation that predisposes the individual to aortic dissection and sudden cardiac death. <ref name="pmid16929365">{{cite journal| author=Gravholt CH| title=Clinical practice in Turner syndrome. | journal=Nat Clin Pract Endocrinol Metab | year= 2005 | volume= 1 | issue= 1 | pages= 41-52 | pmid=16929365 | doi=10.1038/ncpendmet0024 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16929365  }} </ref>
**The aortic severity index is a useful prognostic indicator when assessing for the risk of aortic dilatation. <ref name="pmid20081420">{{cite journal| author=Wolff DJ, Van Dyke DL, Powell CM, Working Group of the ACMG Laboratory Quality Assurance Committee| title=Laboratory guideline for Turner syndrome. | journal=Genet Med | year= 2010 | volume= 12 | issue= 1 | pages= 52-5 | pmid=20081420 | doi=10.1097/GIM.0b013e3181c684b2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20081420  }} </ref>


OR
**It is the aortic diameter corrected for body surface area and a score of more than 2.3cm/m2 indicates a high risk of aortic dissection (2-2.3cm/m2 is considered as moderate risk).
 
**The advice offered to moderate risk patients is restriction of activities and that offered to high risk patients is that they should completely avoid competitive sports and intensive weight training. <ref name="pmid29344338">{{cite journal| author=Shankar RK, Backeljauw PF| title=Current best practice in the management of Turner syndrome. | journal=Ther Adv Endocrinol Metab | year= 2018 | volume= 9 | issue= 1 | pages= 33-40 | pmid=29344338 | doi=10.1177/2042018817746291 | pmc=5761955 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29344338  }} </ref>
Echocardiography/ultrasound may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include:
*Echocardiography is helpful in screening the following cardiac abnormalities: <ref name="pmid29344338">{{cite journal| author=Shankar RK, Backeljauw PF| title=Current best practice in the management of Turner syndrome. | journal=Ther Adv Endocrinol Metab | year= 2018 | volume= 9 | issue= 1 | pages= 33-40 | pmid=29344338 | doi=10.1177/2042018817746291 | pmc=5761955 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29344338  }} </ref>
*[Finding 1]
*#Coarctation of aorta
*[Finding 2]
*#Ventricular septal defect
*[Finding 3]
*#Bicuspid aortic valve
 
*#Aortic dissection
OR
*#Aortal dilation
 
*#Aortic aneurysm
There are no echocardiography/ultrasound findings associated with [disease name]. However, an echocardiography/ultrasound  may be helpful in the diagnosis of complications of [disease name], which include:
*#Ischemic heart disease
*[Complication 1]
*#Atherosclerosis
*[Complication 2]
*#Elongated transverse aortic arch
*[Complication 3]
*#Pulmonary venous anomalies
 
*#Hypoplastic left heart syndrome
==Ultrasound==
*#Infective endocarditis
Sometimes, fetuses with Turner syndrome are identified by abnormal [[ultrasound]] findings (i.e. heart defect, kidney abnormality, [[cystic hygroma]], [[ascites]]).
*Renal Ultrasound is helpful in screening the following structural abnormalities:
*#Horse shoe shaped kidney  
*#Duplicate ureter


==2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guideline Recommendations: Diagnosis and Management of Patients with Thoracic Aortic Disease (DO NOT EDIT) <ref name="pmid20233780">{{cite journal| author=Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, Casey DE et al.| title=2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. | journal=Circulation | year= 2010 | volume= 121 | issue= 13 | pages= e266-369 | pmid=20233780 | doi=10.1161/CIR.0b013e3181d4739e | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20233780  }} </ref>==
==2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guideline Recommendations: Diagnosis and Management of Patients with Thoracic Aortic Disease (DO NOT EDIT) <ref name="pmid20233780">{{cite journal| author=Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, Casey DE et al.| title=2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. | journal=Circulation | year= 2010 | volume= 121 | issue= 13 | pages= e266-369 | pmid=20233780 | doi=10.1161/CIR.0b013e3181d4739e | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20233780  }} </ref>==

Revision as of 20:12, 17 August 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2] Akash Daswaney, M.B.B.S[3]

Overview

There are no echocardiography/ultrasound findings associated with [disease name].

OR

Echocardiography/ultrasound may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no echocardiography/ultrasound findings associated with [disease name]. However, an echocardiography/ultrasound may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

Echocardiography/Ultrasound

  • Turner syndrome may be diagnosed or suspected prenatally because of an ultrasonography showing a left-sided cardiac defect, renal anomalies, growth retardation, relatively short limbs, fetal edema, cystic hygroma, polyhydramnios, brachycephaly.
  • Renal ultrasound for structural abnormalities like duplication of the collecting system and horseshoe shaped kidney.
    • Echocardiography for cardiac structural abnormalities especially aortic dilation that predisposes the individual to aortic dissection and sudden cardiac death. [1]
    • The aortic severity index is a useful prognostic indicator when assessing for the risk of aortic dilatation. [2]
    • It is the aortic diameter corrected for body surface area and a score of more than 2.3cm/m2 indicates a high risk of aortic dissection (2-2.3cm/m2 is considered as moderate risk).
    • The advice offered to moderate risk patients is restriction of activities and that offered to high risk patients is that they should completely avoid competitive sports and intensive weight training. [3]
  • Echocardiography is helpful in screening the following cardiac abnormalities: [3]
    1. Coarctation of aorta
    2. Ventricular septal defect
    3. Bicuspid aortic valve
    4. Aortic dissection
    5. Aortal dilation
    6. Aortic aneurysm
    7. Ischemic heart disease
    8. Atherosclerosis
    9. Elongated transverse aortic arch
    10. Pulmonary venous anomalies
    11. Hypoplastic left heart syndrome
    12. Infective endocarditis
  • Renal Ultrasound is helpful in screening the following structural abnormalities:
    1. Horse shoe shaped kidney
    2. Duplicate ureter

2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guideline Recommendations: Diagnosis and Management of Patients with Thoracic Aortic Disease (DO NOT EDIT) [4]

Aortic Imaging in Genetic Syndromes (DO NOT EDIT) [4]

Class I
"1. Patients with Turner syndrome should undergo imaging of the heart and aorta for evidence of bicuspid aortic valve, coarctation of the aorta, or dilatation of the ascending thoracic aorta. If initial imaging is normal and there are no risk factors for aortic dissection, repeat imaging should be performed every 5 to 10 years or if otherwise clinically indicated. If abnormalities exist, annual imaging or follow-up imaging should be done. (Level of Evidence: C)"
Class IIb
"1. In patients with Turner syndrome with additional risk factors, including bicuspid aortic valve, coarctation of the aorta, and/or hypertension, and in patients who attempt to become pregnant or who become pregnant, it may be reasonable to perform imaging of the heart and aorta to help determine the risk of aortic dissection. (Level of Evidence: C)"

References

  1. Gravholt CH (2005). "Clinical practice in Turner syndrome". Nat Clin Pract Endocrinol Metab. 1 (1): 41–52. doi:10.1038/ncpendmet0024. PMID 16929365.
  2. Wolff DJ, Van Dyke DL, Powell CM, Working Group of the ACMG Laboratory Quality Assurance Committee (2010). "Laboratory guideline for Turner syndrome". Genet Med. 12 (1): 52–5. doi:10.1097/GIM.0b013e3181c684b2. PMID 20081420.
  3. 3.0 3.1 Shankar RK, Backeljauw PF (2018). "Current best practice in the management of Turner syndrome". Ther Adv Endocrinol Metab. 9 (1): 33–40. doi:10.1177/2042018817746291. PMC 5761955. PMID 29344338.
  4. 4.0 4.1 Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, Casey DE; et al. (2010). "2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine". Circulation. 121 (13): e266–369. doi:10.1161/CIR.0b013e3181d4739e. PMID 20233780.


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