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Essential hypertension(EHT)

MedGen UID:
88442
Concept ID:
C0085580
Disease or Syndrome
Synonyms: EHT
Modes of inheritance:
Multifactorial inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Sources: HPO, Orphanet
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
SNOMED CT: Essential hypertension (59621000); Idiopathic hypertension (59621000); Systemic primary arterial hypertension (59621000); Primary hypertension (59621000)
 
Genes (locations): ADD1 (4p16.3); AGT (1q42.2); AGTR1 (3q24); ATP1B1 (1q24.2); CYP3A5 (7q22.1); ECE1 (1p36.12); GNB3 (12p13.31); NOS2 (17q11.2); NOS3 (7q36.1); PTGIS (20q13.13); RGS5 (1q23.3)
OMIM®: 145500

Definition

The Pickering school held that blood pressure has a continuous distribution, that multiple genes and multiple environmental factors determine the level of one's blood pressure just as the determination of stature and intelligence is multifactorial, and that 'essential hypertension' is merely the upper end of the distribution (Pickering, 1978). In this view the person with essential hypertension is one who happens to inherit an aggregate of genes determining hypertension (and also is exposed to exogenous factors that favor hypertension). The Platt school took the view that essential hypertension is a simple mendelian dominant trait (Platt, 1963). McDonough et al. (1964) defended the monogenic idea. See McKusick (1960) and Kurtz and Spence (1993) for reviews. Swales (1985) reviewed the Platt-Pickering controversy as an 'episode in recent medical history.' The Pickering point of view appears to be more consistent with the observations. [from OMIM]

Additional description

From GHR
Hypertension is abnormally high blood pressure in the arteries, which are the blood vessels that carry blood from the heart to the rest of the body. As the heart beats, it forces blood through the arteries to deliver nutrients and oxygen to the rest of the body. The strength of the blood pushing against the artery walls is blood pressure, which is measured in units called millimeters of mercury (mmHg). The top number in a blood pressure reading is the pressure when the heart pumps (systolic blood pressure), and the bottom number is the pressure between heart beats (diastolic blood pressure). In adults, a normal blood pressure measurement is about 120/80 mmHg. Blood pressure is considered high when the measurement is 130/80 mmHg or greater.Hypertension usually has no symptoms, and many affected individuals do not know they have the condition. However, hypertension is a major risk factor for heart disease, stroke, kidney failure, and eye problems. When blood pressure is elevated, the heart and arteries have to work harder than normal to pump blood through the body. The extra work thickens the muscles of the heart and arteries and hardens or damages artery walls. As a result, the flow of blood and oxygen to the heart and other organs is reduced. Damage to the heart caused by the extra work and a lack of oxygen causes heart disease. In addition, damage to the arteries increases the risk of blood clots that block the flow of blood to the heart, causing a heart attack, or to the brain, causing a type of stroke known as an ischemic stroke. Another type of stroke, called a hemorrhagic stroke, can occur when a weakened blood vessel in the brain bursts. Damage to blood vessels in the kidneys impairs their ability to filter waste and remove fluid, leading to kidney failure. Problems with blood flow in the arteries of the eyes can lead to vision loss.In rare cases, dangerously high blood pressure can cause severe headaches, confusion, shortness of breath, chest pain, or nosebleeds.In about 95 percent of cases, the cause of hypertension is unknown. These cases are classified as essential hypertension. When hypertension results from an underlying condition, such as blood vessel defects that reduce blood flow; kidney disorders, which alter the amount of fluids and salts in the body; or problems with hormone-producing glands called the adrenal glands or the thyroid gland, it is classified as secondary hypertension. Hypertension is a key feature of some rare genetic disorders, including familial hyperaldosteronism, pseudohypoaldosteronism type 2, Liddle syndrome, Bartter syndrome, Gitelman syndrome, and tumors known as paragangliomas.  https://ghr.nlm.nih.gov/condition/hypertension

Clinical features

Elevated systolic blood pressure
MedGen UID:
333547
Concept ID:
C1840374
Finding
Abnormal increase in systolic blood pressure.
Elevated diastolic blood pressure
MedGen UID:
374454
Concept ID:
C1840375
Finding
Abnormal increase in diastolic blood pressure.
Elevated mean arterial pressure
MedGen UID:
326719
Concept ID:
C1840376
Finding
An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.

Recent clinical studies

Etiology

Nwafor NN, Adeyekun AA, Adenike OA
Niger J Clin Pract 2018 May;21(5):578-584. doi: 10.4103/njcp.njcp_57_17. PMID: 29735857
Chen B, Wang Y, He Z, Wang D, Yan X, Xie P
Medicine (Baltimore) 2018 Feb;97(8):e9972. doi: 10.1097/MD.0000000000009972. PMID: 29465596Free PMC Article
Chen HL, Li ZM, Liu JF, Han B, Wu ZX, Mao YQ, Sun KY, Wang LS
Clin Exp Hypertens 2018;40(7):695-701. Epub 2018 Feb 5 doi: 10.1080/10641963.2018.1425420. PMID: 29400588
Tokgöz ST, Yılmaz D, Tokgöz Y, Çelik B, Bulut Y
Cardiol Young 2018 Mar;28(3):403-408. Epub 2017 Dec 10 doi: 10.1017/S1047951117002025. PMID: 29223189
Zhang G, Li X, Zhang K, Zhao J, Qiu C
J Renin Angiotensin Aldosterone Syst 2017 Oct-Dec;18(4):1470320317744917. doi: 10.1177/1470320317744917. PMID: 29233044Free PMC Article

Diagnosis

Shah SFA, Iqbal T, Qamar R, Rafiq MA, Hussain S
DNA Cell Biol 2018 Jul;37(7):609-616. Epub 2018 May 14 doi: 10.1089/dna.2018.4222. PMID: 29756997
Li C, Chang Q, Zhang J, Chai W
Medicine (Baltimore) 2018 May;97(18):e0639. doi: 10.1097/MD.0000000000010639. PMID: 29718876
Tokgöz ST, Yılmaz D, Tokgöz Y, Çelik B, Bulut Y
Cardiol Young 2018 Mar;28(3):403-408. Epub 2017 Dec 10 doi: 10.1017/S1047951117002025. PMID: 29223189
Monticone S, D'Ascenzo F, Moretti C, Williams TA, Veglio F, Gaita F, Mulatero P
Lancet Diabetes Endocrinol 2018 Jan;6(1):41-50. Epub 2017 Nov 9 doi: 10.1016/S2213-8587(17)30319-4. PMID: 29129575
Di Raimondo D, Musiari G, Grova M, Miceli G, Tuttolomondo A, Pinto A
Curr Pharm Des 2017;23(31):4635-4649. doi: 10.2174/1381612823666170911102711. PMID: 28891450

Therapy

Zhao D, Liu H, Dong P
Clin Exp Hypertens 2019;41(1):75-79. Epub 2018 Mar 28 doi: 10.1080/10641963.2018.1445750. PMID: 29589977
Chen B, Wang Y, He Z, Wang D, Yan X, Xie P
Medicine (Baltimore) 2018 Feb;97(8):e9972. doi: 10.1097/MD.0000000000009972. PMID: 29465596Free PMC Article
Gać P, Jaźwiec P, Poręba M, Mazur G, Pawlas K, Sobieszczańska M, Poręba R
Environ Toxicol Pharmacol 2017 Dec;56:114-120. Epub 2017 Sep 1 doi: 10.1016/j.etap.2017.08.024. PMID: 28892753
Garfinkle MA
J Am Soc Hypertens 2017 Jun;11(6):385-391. Epub 2017 Apr 14 doi: 10.1016/j.jash.2017.04.006. PMID: 28479261
Gać P, Jaźwiec P, Mazur G, Poręba R
Cardiovasc Toxicol 2017 Jul;17(3):335-343. doi: 10.1007/s12012-016-9391-x. PMID: 27826876

Prognosis

Timasheva YR, Nasibullin TR, Tuktarova IA, Erdman VV, Mustafina OE
Mol Biol Rep 2018 Oct;45(5):1557-1564. Epub 2018 Jul 17 doi: 10.1007/s11033-018-4257-x. PMID: 30019153
Pei Z, Liu J, Liu M, Zhou W, Yan P, Wen S, Chen Y
Interdiscip Sci 2018 Mar;10(1):126-130. Epub 2018 Jan 29 doi: 10.1007/s12539-017-0271-2. PMID: 29380342
Monticone S, D'Ascenzo F, Moretti C, Williams TA, Veglio F, Gaita F, Mulatero P
Lancet Diabetes Endocrinol 2018 Jan;6(1):41-50. Epub 2017 Nov 9 doi: 10.1016/S2213-8587(17)30319-4. PMID: 29129575
Di Raimondo D, Musiari G, Grova M, Miceli G, Tuttolomondo A, Pinto A
Curr Pharm Des 2017;23(31):4635-4649. doi: 10.2174/1381612823666170911102711. PMID: 28891450
Turgut Cosan D, Colak E, Saydam F, Yazıcı HU, Degirmenci I, Birdane A, Colak E, Gunes HV
Clin Exp Hypertens 2016;38(7):602-607. Epub 2016 Sep 26 doi: 10.3109/10641963.2016.1174255. PMID: 27668323

Clinical prediction guides

Timasheva YR, Nasibullin TR, Tuktarova IA, Erdman VV, Mustafina OE
Mol Biol Rep 2018 Oct;45(5):1557-1564. Epub 2018 Jul 17 doi: 10.1007/s11033-018-4257-x. PMID: 30019153
Shah SFA, Iqbal T, Qamar R, Rafiq MA, Hussain S
DNA Cell Biol 2018 Jul;37(7):609-616. Epub 2018 May 14 doi: 10.1089/dna.2018.4222. PMID: 29756997
Chen HL, Li ZM, Liu JF, Han B, Wu ZX, Mao YQ, Sun KY, Wang LS
Clin Exp Hypertens 2018;40(7):695-701. Epub 2018 Feb 5 doi: 10.1080/10641963.2018.1425420. PMID: 29400588
Srivastava K, Chandra S, Narang R, Bhatia J, Saluja D
Eur J Clin Invest 2018 Jan;48(1) Epub 2017 Dec 13 doi: 10.1111/eci.12868. PMID: 29178542
Gać P, Jaźwiec P, Poręba M, Mazur G, Pawlas K, Sobieszczańska M, Poręba R
Environ Toxicol Pharmacol 2017 Dec;56:114-120. Epub 2017 Sep 1 doi: 10.1016/j.etap.2017.08.024. PMID: 28892753

Recent systematic reviews

Chen H, Shen FE, Tan XD, Jiang WB, Gu YH
Med Sci Monit 2018 May 8;24:2946-2969. doi: 10.12659/MSM.909995. PMID: 29735972Free PMC Article
Monticone S, D'Ascenzo F, Moretti C, Williams TA, Veglio F, Gaita F, Mulatero P
Lancet Diabetes Endocrinol 2018 Jan;6(1):41-50. Epub 2017 Nov 9 doi: 10.1016/S2213-8587(17)30319-4. PMID: 29129575
Tsoi B, Akioyamen LE, Bonner A, Frankfurter C, Levine M, Pullenayegum E, Goeree R, O'Reilly D
Heart Lung Circ 2018 Jun;27(6):666-682. Epub 2017 Jul 14 doi: 10.1016/j.hlc.2017.06.721. PMID: 28807582
Wang H, Liu C, Zhai J, Shang H
Complement Ther Med 2017 Apr;31:90-99. Epub 2017 Feb 21 doi: 10.1016/j.ctim.2017.02.005. PMID: 28434477
Reiter LM, Christensen DL, Gjesing AP
J Hum Hypertens 2016 Aug;30(8):467-78. Epub 2015 Nov 26 doi: 10.1038/jhh.2015.114. PMID: 26607294

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