Accepted Manuscript The Need to Continue Screening for Hypertrophic Cardiomyopathy after Adolescence Alexa Vermeer, MD, Imke Christiaans, MD, PhD, Arthur Wilde, MD, PhD PII:
S0002-9149(15)00114-9
DOI:
10.1016/j.amjcard.2015.01.031
Reference:
AJC 20916
To appear in:
The American Journal of Cardiology
Received Date: 19 January 2015 Accepted Date: 19 January 2015
Please cite this article as: Vermeer A, Christiaans I, Wilde A, The Need to Continue Screening for Hypertrophic Cardiomyopathy after Adolescence, The American Journal of Cardiology (2015), doi: 10.1016/j.amjcard.2015.01.031. This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.
ACCEPTED MANUSCRIPT The Need to Continue Screening for Hypertrophic Cardiomyopathy after Adolescence
In a report, Maron et al1 tell us that the number of adult patients reported with delayed-onset left ventricular (LV) hypertrophy has been relatively small and that it would be
RI PT
expected that the majority of the relatives of hypertrophic cardiomyopathy (HC) patients with normal imaging and electrocardiographic findings at 18 years of age will be genetically
unaffected. This opinion is not supported by data from a recently published cohort of Dutch HC mutation carriers2.
SC
According to the American College of Cardiology Foundation/American Heart
Association (ACCF/AHA) Guideline3 and the American College of Cardiology/European
M AN U
Society of Cardiology (ACC/ESC) Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy 4, all HC family members should undergo a cardiac evaluation during adolescence. And due to the possibility of delayed adult-onset LVH, it is recommended that adult relatives with normal echocardiograms at or beyond age 18 have subsequent clinical
TE D
studies performed once every five years. In the Netherlands, that is the current policy. Because of this current screening policy and the possibility of DNA-diagnostics and cascade screening we have access to cardiac follow-up data of many HC mutation carriers, including
EP
asymptomatic family members.
The latest publication on our national database reports on 446 predictively tested HC
AC C
mutation carriers2. 339 (76.0%) carriers with a mean age of 37.4+17.1 years had no HC phenotype at the first cardiac evaluation. Twenty-nine (mean age at first cardiac evaluation 45.0+16.0 years) of these 339 carriers (8.6%) developed LV hypertrophy during an average total follow-up of 2.2+1.6 years. In all these carriers, the onset of LV hypertrophy occurred in all but one after adolescence (mean age of onset 45.4+16.0 years, range 10-71). In conclusion, we found that even during a limited time of follow-up a significant number of HC mutation carriers develop a HC phenotype after adolescence. Besides a majority of predictively tested mutation carriers still has no phenotype in adulthood. Therefore it is important to continue screening after adolescence when there is no HC phenotype at the
ACCEPTED MANUSCRIPT initial evaluation. We are pleased to see that Maron et al1 share this view, however negative echo findings after adolescence are more common among HC mutation carriers than previously thought.
RI PT
Alexa Vermeer, MD Imke Christiaans, MD, PhD Arthur Wilde, MD, PhD Amsterdam, The Netherlands
AC C
EP
TE D
M AN U
SC
28 February 2012
ACCEPTED MANUSCRIPT 1. Maron BJ, Haas TS, Kitner C, Lesser JR. Onset of Apical Hypertrophic Cardiomyopathy in Adulthood. Am J Cardiol 2011;108:1783-1787 2. Christiaans I, Birnie E, Bonsel GJ, Mannens MMAM, Michels M, Majoor-Krakauer D, Dooijes D, van Tintelen JP, van den Berg MP, Volders PGA, Arens YH, van den
RI PT
Wijngaard A, Atsma DE, Helderman-van den Enden ATJM, Houweling AC, de Boer K, van der Smagt JJ, Hauer RNW, Marcelis CLM, Timmermans J, van Langen IM, Wilde AAM. Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic
strategy. Eur Heart J 2011;32:1161-1170.
SC
cardiomyopathy mutation carriers: determining the best cardiological screening
M AN U
3. Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW. 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology
TE D
Foundation/American Heart Association Task Force on Practice Guidelines. J Am Coll Cardiol 2011;58:212-260
4. Maron BJ, McKenna WJ, Danielson GK, Kappenberger LJ, Kuhn HJ, Seidman CE,
EP
Shah PM, Spencer WH III, Spirito P, Ten Cate FJ, Wigle ED. American College of Cardiology/European Society of Cardiology Clinical Expert Consensus Document on
AC C
Hypertrophic Cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. J Am Coll Cardiol
2003;42:1687-1713
S0002-9149(15)00114-9
DOI:
10.1016/j.amjcard.2015.01.031
Reference:
AJC 20916
To appear in:
The American Journal of Cardiology
Received Date: 19 January 2015 Accepted Date: 19 January 2015
Please cite this article as: Vermeer A, Christiaans I, Wilde A, The Need to Continue Screening for Hypertrophic Cardiomyopathy after Adolescence, The American Journal of Cardiology (2015), doi: 10.1016/j.amjcard.2015.01.031. This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.
ACCEPTED MANUSCRIPT The Need to Continue Screening for Hypertrophic Cardiomyopathy after Adolescence
In a report, Maron et al1 tell us that the number of adult patients reported with delayed-onset left ventricular (LV) hypertrophy has been relatively small and that it would be
RI PT
expected that the majority of the relatives of hypertrophic cardiomyopathy (HC) patients with normal imaging and electrocardiographic findings at 18 years of age will be genetically
unaffected. This opinion is not supported by data from a recently published cohort of Dutch HC mutation carriers2.
SC
According to the American College of Cardiology Foundation/American Heart
Association (ACCF/AHA) Guideline3 and the American College of Cardiology/European
M AN U
Society of Cardiology (ACC/ESC) Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy 4, all HC family members should undergo a cardiac evaluation during adolescence. And due to the possibility of delayed adult-onset LVH, it is recommended that adult relatives with normal echocardiograms at or beyond age 18 have subsequent clinical
TE D
studies performed once every five years. In the Netherlands, that is the current policy. Because of this current screening policy and the possibility of DNA-diagnostics and cascade screening we have access to cardiac follow-up data of many HC mutation carriers, including
EP
asymptomatic family members.
The latest publication on our national database reports on 446 predictively tested HC
AC C
mutation carriers2. 339 (76.0%) carriers with a mean age of 37.4+17.1 years had no HC phenotype at the first cardiac evaluation. Twenty-nine (mean age at first cardiac evaluation 45.0+16.0 years) of these 339 carriers (8.6%) developed LV hypertrophy during an average total follow-up of 2.2+1.6 years. In all these carriers, the onset of LV hypertrophy occurred in all but one after adolescence (mean age of onset 45.4+16.0 years, range 10-71). In conclusion, we found that even during a limited time of follow-up a significant number of HC mutation carriers develop a HC phenotype after adolescence. Besides a majority of predictively tested mutation carriers still has no phenotype in adulthood. Therefore it is important to continue screening after adolescence when there is no HC phenotype at the
ACCEPTED MANUSCRIPT initial evaluation. We are pleased to see that Maron et al1 share this view, however negative echo findings after adolescence are more common among HC mutation carriers than previously thought.
RI PT
Alexa Vermeer, MD Imke Christiaans, MD, PhD Arthur Wilde, MD, PhD Amsterdam, The Netherlands
AC C
EP
TE D
M AN U
SC
28 February 2012
ACCEPTED MANUSCRIPT 1. Maron BJ, Haas TS, Kitner C, Lesser JR. Onset of Apical Hypertrophic Cardiomyopathy in Adulthood. Am J Cardiol 2011;108:1783-1787 2. Christiaans I, Birnie E, Bonsel GJ, Mannens MMAM, Michels M, Majoor-Krakauer D, Dooijes D, van Tintelen JP, van den Berg MP, Volders PGA, Arens YH, van den
RI PT
Wijngaard A, Atsma DE, Helderman-van den Enden ATJM, Houweling AC, de Boer K, van der Smagt JJ, Hauer RNW, Marcelis CLM, Timmermans J, van Langen IM, Wilde AAM. Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic
strategy. Eur Heart J 2011;32:1161-1170.
SC
cardiomyopathy mutation carriers: determining the best cardiological screening
M AN U
3. Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW. 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology
TE D
Foundation/American Heart Association Task Force on Practice Guidelines. J Am Coll Cardiol 2011;58:212-260
4. Maron BJ, McKenna WJ, Danielson GK, Kappenberger LJ, Kuhn HJ, Seidman CE,
EP
Shah PM, Spencer WH III, Spirito P, Ten Cate FJ, Wigle ED. American College of Cardiology/European Society of Cardiology Clinical Expert Consensus Document on
AC C
Hypertrophic Cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. J Am Coll Cardiol
2003;42:1687-1713
