Cardiovascular Journal of Africa: Vol 27 No 3 (May/June 2016)

36 / 102

CARDIOVASCULAR JOURNAL OF AFRICA • Volume 27, No 3, May/June 2016 158 AFRICA
trophic cardiomyopathy. East Afr Med J 1990; 67: 556–567.
7. Moolman JC, Brink PA, Corfield VA. Identification of a new missense
mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-
myosin heavy chain gene in hypertrophic cardiomyopathy. Hum Mol
Genet 1993; 2: 1731–1732.
8. Moolman JC, Brink PA, Corfield VA. Identification of a novel
Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in
hypertrophic cardiomyopathy. Human Mutation 1995; 6: 197–198.
9. Moolman JC, Corfield VA, Posen B, et al. Sudden death due to troponin
T mutations. J Am Coll Cardiol 1997; 29: 549–555.
10. Moolman-Smook JC, De Lange WJ, Bruwer EC, Brink PA, Corfield
VA. The origins of hypertrophic cardiomyopathy-causing mutations in
two South African subpopulations: a unique profile of both independ-
ent and founder events. Am J Hum Genet 1999; 65: 1308–1320.
11. Maron BJ, Casey SA, Poliac LC, Gohman TE, Almquist AK, Aeppli
DM. Clinical course of hypertrophic cardiomyopathy in a regional
united states cohort. J Am Med Assoc 1999; 281: 650–655.
12. Eriksson MJ, Sonnenberg B, Woo A, et al. Long-term outcome in
patients with apical hypertrophic cardiomyopathy. J Am Coll Cardiol
2002; 39: 638–645.
13. Gersh BJ, Maron BJ, Bonow RO, et al. 2011 ACCF/AHA guideline for
the diagnosis and treatment of hypertrophic cardiomyopathy: executive
summary: a report of the American College of Cardiology Foundation/
American Heart Association Task Force on Practice Guidelines.
Circulation 2011; 124: 2761–2796.
14. Lauer MS, Larson MG, Levy D. Gender-specific reference M-mode
values in adults: population-derived values with consideration of the
impact of height. J Am Coll Cardiol 1995; 26: 1039–1046.
15. Watkins H, Ashrafian H, Redwood C. Inherited cardiomyopathies. N
Engl J Med 2011; 364: 1643–1656.
16. Lee CH, Liu PY, Lin LJ, Chen JH, Tsai LM. Clinical characteristics and
outcomes of hypertrophic cardiomyopathy in Taiwan – a tertiary center
experience. Clin Cardiol 2007; 30: 177–182.
17. Ahmed W, Akhtar N, Bech-Hanssen O, Mahdi BA, Otaibi TA, Fadel
BM. Hypertrophic cardiomyopathy in the Saudi Arabian population:
Clinical and echocardiographic characteristics and outcome analysis. J
Saudi Heart Assoc 2014; 26: 7–13.
18. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, et
al, EUROGENE Heart Failure Project. Hypertrophic cardiomyopathy:
distribution of disease genes, spectrum of mutations, and implications
for a molecular diagnosis strategy. Circulation 2003; 107: 2227–2232.
19. Konno T, Chang S, Seidman JG, Seiman CE. Genetics of hypertrophic
cardiomyopathy. Curr Opin Cardiol 2010; 25: 205–209.
20. Maron BJ, Maron MS, Semsarian C. Genetics of hypertrophic cardio-
myopathy after 20 years. J Am Coll Cardiol 2012; 60: 705–715.
21. Bos JM, Towbin JA, Ackerman MJ. Diagnostic, prognostic, and thera-
peutic implications of genetic testing for hypertrophic cardiomyopathy.
J Am Coll Cardiol 2009; 54: 201–211.
22. Zou Y, Wang J, Liu X, Wang Y, Chen Y, Sun K, et al. Multiple gene
mutations, not the type of mutation, are the modifier of left ventricle
hypertrophy in patients with hypertrophic cardiomyopathy. Mol Biol
Rep 2013; 40(6): 3969–3976.
23. Bahrudin U, Morisaki H, Morisaki T, Ninomiya H, Higaki K, Nanba
E, et al. Ubiquitin-proteasome system impairment caused by a missense
cardiac myosin-binding protein C mutation and associated with cardiac
dysfunction in hypertrophic cardiomyopathy. J Mol Biol 2008; 384(4):
896–907.
24. Andersen PS, Havndrup O, Bundgaard H, Larsen LA, Vuust J, Pedersen
AK, et al. Genetic and phenotypic characterization of mutations in
myosin-binding protein C (MYBPC3) in 81 families with familial hyper-
trophic cardiomyopathy: total or partial haploin sufficiency. Eur J Hum
Genet 2004; 12(8): 673–677.
25. De Lange WJ. An Investigation of myosin binding protein C mutations
in South Africa and a search for ligands binding to myosin binding
protein C. PhD thesis, University of Stellenbosch, 2004.
26. Tanjore RR, Rangaraju A, Kerkar PG, Calambur N, Nallari P.
MYBPC3 gene variations in hypertrophic cardiomyopathy patients in
India. Can J Cardiol 2008; 24(2): 127–130.
Risk of cardiac death in diabetic haemodialysis patients
increased due to thyroid problems
Aprospective study found that diabetic haemodialysis patients’
sub-clinical hyperthyroidism and euthyroid sick syndrome
may increase the risk of sudden cardiac-related deaths. Dr
Christiane Drechsler, of University Hospital Würzburg in
Würzburg, Germany, and colleagues conducted a study that
included 1 000 patients undergoing haemodialysis for diabetes.
Of those patients, 78.1% had euthyroidism, 13.7%
had sub-clinical hyperthyroidism, 1.6% had sub-clinical
hypothyroidism and 5.4% had euthyroid sick syndrome.
Patients with euthyroidism were compared with those who
had sub-clinical hyperthyroidism and euthyroid sick syndrome
with regard to which group showed an increased short-term
(within a 12-month period) risk of sudden cardiac death.
It showed that patients who had euthyroidism had a
2.0-fold increased short-term risk of sudden cardiac death,
and those who had sub-clinical hyperthyroidism and
euthyroid sick syndrome had a 2.7-fold increase. The results
showed that euthyroid sick syndrome was associated with a
three-fold increased risk of short-term mortality, but in the
long term (two to four years) it showed no increased risk.
The study revealed that sub-clinical hypothyroidism
was not associated with cardiovascular events or all-cause
mortality, which indicated that thyroid disorders had no
influence on the risks of myocardial infarction and stroke.
This study led researchers to conclude, ‘Regularly assessing a
patient’s thyroid status may help estimate the cardiac risk of
dialysis patients.’
Reference
1.
ac-death-risk-in-diabetic-hd-patients/article/348571/