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Gene Review

EVC2  -  Ellis van Creveld syndrome 2

Homo sapiens

Synonyms: Ellis-van Creveld syndrome protein 2, LBN, Limbin
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Disease relevance of EVC2

  • A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis [1].
  • LBN rats bearing acute myelocytic leukemia (AML) were treated with 100 mg Ara-C/kg q.8 h six times beginning on day 0 and on other days in sequence (0,1 through 0,12) [2].
  • LBNP caused less reduction in FBF in refractory ascites patients than in both preascitic patients and controls (P < 0.01) [3].
  • Attenuated LBNP responses occurred only in advanced cirrhosis, without apparent interaction with endogenous ANG II [3].
  • Seven of 13 subjects had presyncope during LBNP, all associated with a sudden drop in BP (29 +/- 9%) [4].

Psychiatry related information on EVC2

  • A beneficial effect of the LBNP sessions on simple tests involving the visual-motor coordination and attention faculties can only be regarded as a mere trend [5].
  • Psychomotor testing showed a significant slowing of reaction time with LBNP, but only for the easiest component of a complex task, while saccadic latencies were found to be shortened following LBNP exposure [6].

High impact information on EVC2


Chemical compound and disease context of EVC2


Biological context of EVC2

  • Pressor and heart rate responses to handgrip also were unaffected by LBNP [13].
  • LBNP alone (cardiac reflex) did not alter blood pressure or heart rate but decreased central venous pressure by 2.5 +/- 0.1 mm Hg (mean +/- SEM, p less than 0.05) and increased MSNA by 92 +/- 22% over the control value [13].
  • In patients with vasovagal syncope, during the application of -10 mm Hg LBNP, forearm vascular resistance decreased by 0.7 +/- 11.6 U versus an increase of 8.3 +/- 6.2 U in control subjects (P = .002) [14].
  • Increases of sympathetic nerve activity, however, were significantly greater in borderline hypertensive than in normotensive subjects at each level of LBNP, indicating an augmented gain of the cardiopulmonary baroreflex [15].
  • LBNP produced similar decreases in central venous pressure in all groups before and after drug administration [16].

Anatomical context of EVC2

  • In conclusion, this study provides direct evidence in humans that nonhypotensive LBNP does not augment muscle sympathetic outflow during static handgrip and challenges the concept of an important interaction between cardiac baroreceptor and exercise pressor reflexes during this form of exercise [13].
  • Noninvasive measures of cardiac output, heart rate, blood pressure, forearm flow and leg volume during lower body negative pressure (LBNP) showed that patients had less lower extremity pooling of blood and had lower forearm conductance [17].
  • In 11 healthy humans, we recorded muscle sympathetic nerve activity (MSNA) with microelectrodes (peroneal nerve), as well as blood flow in the forearm and calf (venous occlusion plethysmography) at baseline and during graded LBNP [18].
  • The findings that left atrial diameter decreased and plasma norepinephrine concentration increased during LBNP -10 mm Hg suggest that the sympathetic nervous system is sensitive to changes in atrial receptor activity [19].
  • We tested this hypothesis directly by making intraneural measurements of skeletal muscle sympathetic nerve activity (MSNA; peroneal microneurography) in groups of young (23+/-1 years; n=11) and older (64+/-1 years; n=12) healthy adult men during progressive hypovolemia produced by graded (-5 to -40 mm Hg) lower body negative pressure (LBNP) [20].

Associations of EVC2 with chemical compounds


Other interactions of EVC2

  • Affected individuals with mutations in EVC and EVC2 have the typical spectrum of features and are phenotypically indistinguishable [24].

Analytical, diagnostic and therapeutic context of EVC2

  • We measured pulmonary capillary wedge (PCW) pressure (Swan-Ganz catheter), LVEDV (two-dimensional echocardiography), and cardiac output (C2H2 rebreathing) during lower body negative pressure (LBNP, -15 and -30 mm Hg) and rapid saline infusion (15 and 30 ml/kg) in seven athletes and six controls (VO2max, 68 +/- 7 and 41 +/- 4 ml/kg/min) [25].
  • To further test this concept in humans, we measured sympathetic nerve discharge with intraneural microelectrodes while we used static handgrip to activate the exercise pressor reflex and nonhypotensive lower-body negative pressure (LBNP) to selectively unload the cardiac baroreflex [13].
  • Despite high baseline values for FVR, patients with LVD developed vasoconstriction during intra-arterial infusions of norepinephrine, thereby excluding a nonspecific depression of vascular reactivity as the mechanism for abnormal responses to LBNP in patients with LVD [26].
  • CONCLUSIONS: This is the first study showing that brief cold stress, tolerated well in normal circulatory conditions, can provoke sudden sympathoinhibition and hypotension when applied during decreased cardiac output induced by LBNP or hemodialysis [27].
  • (2) In heart transplant recipients, a small increase in MSNA during mild LBNP was dependent on a decrease in arterial pressure, but in normal subjects, a similar increase in MSNA occurred in the absence of any detectable decrease in the aortic pressure stimulus to the sinoaortic baroreceptors [28].


  1. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. Ye, X., Song, G., Fan, M., Shi, L., Jabs, E.W., Huang, S., Guo, R., Bian, Z. Hum. Genet. (2006) [Pubmed]
  2. Chemotherapy of leukemia in mice, rats, and humans relating time of humoral stimulation, tumor growth, and clinical response. Burke, P.J., Karp, J.E., Vaughan, W.P. J. Natl. Cancer Inst. (1981) [Pubmed]
  3. Role of angiotensin II in regulation of basal and sympathetically stimulated vascular tone in early and advanced cirrhosis. Helmy, A., Jalan, R., Newby, D.E., Hayes, P.C., Webb, D.J. Gastroenterology (2000) [Pubmed]
  4. Cerebral versus systemic hemodynamics during graded orthostatic stress in humans. Levine, B.D., Giller, C.A., Lane, L.D., Buckey, J.C., Blomqvist, C.G. Circulation (1994) [Pubmed]
  5. Psychomotor performance during a 28 day head-down tilt with and without lower body negative pressure. Pavy Le-Traon, A., Rous De Feneyrols, A., Cornac, A., Abdeseelam, R., N'uygen, D., Lazerges, M., Guell, A., Bes, A. Acta astronautica. (1994) [Pubmed]
  6. Cerebral tissue oxygen status and psychomotor performance during lower body negative pressure (LBNP). Glaister, D.H., Miller, N.L. Aviation, space, and environmental medicine. (1990) [Pubmed]
  7. Epinephrine facilitates neurogenic vasoconstriction in humans. Floras, J.S., Aylward, P.E., Victor, R.G., Mark, A.L., Abboud, F.M. J. Clin. Invest. (1988) [Pubmed]
  8. Impaired responsiveness of the ventricular sensory receptor in hypertensive patients with left ventricular hypertrophy. Trimarco, B., De Luca, N., Ricciardelli, B., Cuocolo, A., De Simone, A., Volpe, M., Mele, A.F., Condorelli, M. Circulation (1986) [Pubmed]
  9. The effects of sublingually administered nitroglycerin on forearm vascular resistance in patients with heart failure and in normal subjects. Imaizumi, T., Takeshita, A., Ashihara, T., Nakamura, M. Circulation (1985) [Pubmed]
  10. Blunted sympathetic response to cardiopulmonary receptor unloading in hypertensive patients with left ventricular hypertrophy. A possible compensatory role of atrial natriuretic factor. Trimarco, B., Lembo, G., De Luca, N., Volpe, M., Ricciardelli, B., Condorelli, G., Rosiello, G., Condorelli, M. Circulation (1989) [Pubmed]
  11. Hemodynamic response during lower body negative pressure: role of volume status. Ligtenberg, G., Blankestijn, P.J., Koomans, H.A. J. Am. Soc. Nephrol. (1998) [Pubmed]
  12. Evidence for sympatholysis at the onset of forearm exercise. DeLorey, D.S., Wang, S.S., Shoemaker, J.K. J. Appl. Physiol. (2002) [Pubmed]
  13. Effects of lower-body negative pressure on sympathetic nerve responses to static exercise in humans. Microneurographic evidence against cardiac baroreflex modulation of the exercise pressor reflex. Scherrer, U., Vissing, S.F., Victor, R.G. Circulation (1988) [Pubmed]
  14. Baroreflex sensitivity in patients with vasovagal syncope. Thomson, H.L., Wright, K., Frenneaux, M. Circulation (1997) [Pubmed]
  15. Baroreflex control of muscle sympathetic nerve activity in borderline hypertension. Rea, R.F., Hamdan, M. Circulation (1990) [Pubmed]
  16. Contrasting effects of digitalis and dobutamine on baroreflex sympathetic control in normal humans. Schobel, H.P., Oren, R.M., Roach, P.J., Mark, A.L., Ferguson, D.W. Circulation (1991) [Pubmed]
  17. Autonomic dysfunction in women with mitral valve prolapse syndrome. Gaffney, F.A., Karlsson, E.S., Campbell, W., Schutte, J.E., Nixon, J.V., Willerson, J.T., Blomqvist, C.G. Circulation (1979) [Pubmed]
  18. Contrasting effects of propranolol on sympathetic nerve activity and vascular resistance during orthostatic stress. Jacobsen, T.N., Converse, R.L., Victor, R.G. Circulation (1992) [Pubmed]
  19. Relationship of cardiac chamber volume to baroreflex activity in normal humans. Nabel, E.G., Colucci, W.S., Lilly, L.S., Cutler, S.S., Majzoub, J.A., St John Sutton, M.G., Dzau, V.J., Creager, M.A. J. Clin. Endocrinol. Metab. (1987) [Pubmed]
  20. Augmented cardiopulmonary and integrative sympathetic baroreflexes but attenuated peripheral vasoconstriction with age. Davy, K.P., Seals, D.R., Tanaka, H. Hypertension (1998) [Pubmed]
  21. ACE inhibition: postsynaptic adrenergic sympatholytic action in men. Lyons, D., Roy, S., O'Byrne, S., Swift, C.G. Circulation (1997) [Pubmed]
  22. Effects of propranolol on reflex vascular responses to orthostatic stress in humans. Role of ventricular baroreceptors. Ferguson, D.W., Thames, M.D., Mark, A.L. Circulation (1983) [Pubmed]
  23. Nifedipine potentiates cardiopulmonary baroreflex control of sympathetic nerve activity in healthy humans. Direct evidence from microneurographic studies. Ferguson, D.W., Hayes, D.W. Circulation (1989) [Pubmed]
  24. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Ruiz-Perez, V.L., Tompson, S.W., Blair, H.J., Espinoza-Valdez, C., Lapunzina, P., Silva, E.O., Hamel, B., Gibbs, J.L., Young, I.D., Wright, M.J., Goodship, J.A. Am. J. Hum. Genet. (2003) [Pubmed]
  25. Left ventricular pressure-volume and Frank-Starling relations in endurance athletes. Implications for orthostatic tolerance and exercise performance. Levine, B.D., Lane, L.D., Buckey, J.C., Friedman, D.B., Blomqvist, C.G. Circulation (1991) [Pubmed]
  26. Selective impairment of baroreflex-mediated vasoconstrictor responses in patients with ventricular dysfunction. Ferguson, D.W., Abboud, F.M., Mark, A.L. Circulation (1984) [Pubmed]
  27. Cold stress provokes sympathoinhibitory presyncope in healthy subjects and hemodialysis patients with low cardiac output. Ligtenberg, G., Blankestijn, P.J., Oey, P.L., Wieneke, G.H., van Huffelen, A.C., Koomans, H.A. Circulation (1997) [Pubmed]
  28. Relative contributions of cardiopulmonary and sinoaortic baroreflexes in causing sympathetic activation in the human skeletal muscle circulation during orthostatic stress. Jacobsen, T.N., Morgan, B.J., Scherrer, U., Vissing, S.F., Lange, R.A., Johnson, N., Ring, W.S., Rahko, P.S., Hanson, P., Victor, R.G. Circ. Res. (1993) [Pubmed]
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