Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy

Martin S. Maron, John J. Finley, J. Martijn Bos, Thomas H. Hauser, Warren J. Manning, Tammy S. Haas, John R. Lesser, James E. Udelson, Michael John Ackerman, Barry J. Maron

Research output: Contribution to journalArticle

286 Citations (Scopus)

Abstract

Background - Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease characterized by a diverse clinical and phenotypic spectrum. This study reports the prevalence, morphology, clinical course, and management of an underrecognized subgroup of HCM patients with left ventricular apical aneurysms. Methods and Results - Of 1299 HCM patients, 28 (2%) were identified with left ventricular apical aneurysms, including a pair of identical twins. Aneurysms were recognized at a wide age range (26 to 83 years), including 12 patients (43%) who were ≤50 years of age. Apical aneurysms varied considerably in size (maximum dimension, 10 to 66 mm), were dyskinetic/akinetic with thin rims, and were associated with transmural (and often more extensive) myocardial scarring identified by late gadolinium enhancement cardiovascular magnetic resonance. Apical aneurysms were recognized by echocardiography in only 16 of 28 patients (57%) but by cardiovascular magnetic resonance in the 12 patients undetected by echocardiography. Left ventricular chamber morphology varied; however, 19 patients (68%) showed an "hourglass" contour, with midventricular hypertrophy producing muscular narrowing and intracavitary gradients in 9 patients (74±42 mm Hg). Sarcomeric protein missense mutations known to cause other phenotypic expressions of HCM were present in 3 patients. Over 4.1±3.7 years of follow-up, 12 patients (43%) with left ventricular apical aneurysms experienced adverse disease complications (event rate, 10.5%/y), including sudden death, appropriate implantable cardioverter- defibrillator discharges, nonfatal thromboembolic stroke, and progressive heart failure and death. Conclusions - Patients with left ventricular apical aneurysms represent an underappreciated subset in the heterogeneous HCM disease spectrum with important clinical implications, often requiring a high index of suspicion and cardiovascular magnetic resonance for identification. Apical aneurysms in HCM are associated with substantial cardiovascular morbidity and mortality and raise novel treatment considerations.

Original languageEnglish (US)
Pages (from-to)1541-1549
Number of pages9
JournalCirculation
Volume118
Issue number15
DOIs
StatePublished - Oct 7 2008

Fingerprint

Hypertrophic Cardiomyopathy
Natural History
Aneurysm
Magnetic Resonance Spectroscopy
Echocardiography
Inborn Genetic Diseases
Monozygotic Twins
Implantable Defibrillators
Gadolinium
Missense Mutation
Sudden Death
Hypertrophy
Cicatrix
Heart Diseases
Heart Failure
Cross-Sectional Studies
Stroke
Morbidity
Mortality

Keywords

  • Aneurysm
  • Cardioverter-defibrillators, i
  • Heart arrest
  • Hypertrophic cardiomyopathy
  • Magnetic resonance imaging
  • Mplantable
  • Remodeling

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)

Cite this

Maron, M. S., Finley, J. J., Bos, J. M., Hauser, T. H., Manning, W. J., Haas, T. S., ... Maron, B. J. (2008). Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy. Circulation, 118(15), 1541-1549. https://doi.org/10.1161/CIRCULATIONAHA.108.781401

Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy. / Maron, Martin S.; Finley, John J.; Bos, J. Martijn; Hauser, Thomas H.; Manning, Warren J.; Haas, Tammy S.; Lesser, John R.; Udelson, James E.; Ackerman, Michael John; Maron, Barry J.

In: Circulation, Vol. 118, No. 15, 07.10.2008, p. 1541-1549.

Research output: Contribution to journalArticle

Maron, MS, Finley, JJ, Bos, JM, Hauser, TH, Manning, WJ, Haas, TS, Lesser, JR, Udelson, JE, Ackerman, MJ & Maron, BJ 2008, 'Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy', Circulation, vol. 118, no. 15, pp. 1541-1549. https://doi.org/10.1161/CIRCULATIONAHA.108.781401
Maron, Martin S. ; Finley, John J. ; Bos, J. Martijn ; Hauser, Thomas H. ; Manning, Warren J. ; Haas, Tammy S. ; Lesser, John R. ; Udelson, James E. ; Ackerman, Michael John ; Maron, Barry J. / Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy. In: Circulation. 2008 ; Vol. 118, No. 15. pp. 1541-1549.
@article{14421f118e034f8b813a8fe3dd9da6ee,
title = "Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy",
abstract = "Background - Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease characterized by a diverse clinical and phenotypic spectrum. This study reports the prevalence, morphology, clinical course, and management of an underrecognized subgroup of HCM patients with left ventricular apical aneurysms. Methods and Results - Of 1299 HCM patients, 28 (2{\%}) were identified with left ventricular apical aneurysms, including a pair of identical twins. Aneurysms were recognized at a wide age range (26 to 83 years), including 12 patients (43{\%}) who were ≤50 years of age. Apical aneurysms varied considerably in size (maximum dimension, 10 to 66 mm), were dyskinetic/akinetic with thin rims, and were associated with transmural (and often more extensive) myocardial scarring identified by late gadolinium enhancement cardiovascular magnetic resonance. Apical aneurysms were recognized by echocardiography in only 16 of 28 patients (57{\%}) but by cardiovascular magnetic resonance in the 12 patients undetected by echocardiography. Left ventricular chamber morphology varied; however, 19 patients (68{\%}) showed an {"}hourglass{"} contour, with midventricular hypertrophy producing muscular narrowing and intracavitary gradients in 9 patients (74±42 mm Hg). Sarcomeric protein missense mutations known to cause other phenotypic expressions of HCM were present in 3 patients. Over 4.1±3.7 years of follow-up, 12 patients (43{\%}) with left ventricular apical aneurysms experienced adverse disease complications (event rate, 10.5{\%}/y), including sudden death, appropriate implantable cardioverter- defibrillator discharges, nonfatal thromboembolic stroke, and progressive heart failure and death. Conclusions - Patients with left ventricular apical aneurysms represent an underappreciated subset in the heterogeneous HCM disease spectrum with important clinical implications, often requiring a high index of suspicion and cardiovascular magnetic resonance for identification. Apical aneurysms in HCM are associated with substantial cardiovascular morbidity and mortality and raise novel treatment considerations.",
keywords = "Aneurysm, Cardioverter-defibrillators, i, Heart arrest, Hypertrophic cardiomyopathy, Magnetic resonance imaging, Mplantable, Remodeling",
author = "Maron, {Martin S.} and Finley, {John J.} and Bos, {J. Martijn} and Hauser, {Thomas H.} and Manning, {Warren J.} and Haas, {Tammy S.} and Lesser, {John R.} and Udelson, {James E.} and Ackerman, {Michael John} and Maron, {Barry J.}",
year = "2008",
month = "10",
day = "7",
doi = "10.1161/CIRCULATIONAHA.108.781401",
language = "English (US)",
volume = "118",
pages = "1541--1549",
journal = "Circulation",
issn = "0009-7322",
publisher = "Lippincott Williams and Wilkins",
number = "15",

}

TY - JOUR

T1 - Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy

AU - Maron, Martin S.

AU - Finley, John J.

AU - Bos, J. Martijn

AU - Hauser, Thomas H.

AU - Manning, Warren J.

AU - Haas, Tammy S.

AU - Lesser, John R.

AU - Udelson, James E.

AU - Ackerman, Michael John

AU - Maron, Barry J.

PY - 2008/10/7

Y1 - 2008/10/7

N2 - Background - Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease characterized by a diverse clinical and phenotypic spectrum. This study reports the prevalence, morphology, clinical course, and management of an underrecognized subgroup of HCM patients with left ventricular apical aneurysms. Methods and Results - Of 1299 HCM patients, 28 (2%) were identified with left ventricular apical aneurysms, including a pair of identical twins. Aneurysms were recognized at a wide age range (26 to 83 years), including 12 patients (43%) who were ≤50 years of age. Apical aneurysms varied considerably in size (maximum dimension, 10 to 66 mm), were dyskinetic/akinetic with thin rims, and were associated with transmural (and often more extensive) myocardial scarring identified by late gadolinium enhancement cardiovascular magnetic resonance. Apical aneurysms were recognized by echocardiography in only 16 of 28 patients (57%) but by cardiovascular magnetic resonance in the 12 patients undetected by echocardiography. Left ventricular chamber morphology varied; however, 19 patients (68%) showed an "hourglass" contour, with midventricular hypertrophy producing muscular narrowing and intracavitary gradients in 9 patients (74±42 mm Hg). Sarcomeric protein missense mutations known to cause other phenotypic expressions of HCM were present in 3 patients. Over 4.1±3.7 years of follow-up, 12 patients (43%) with left ventricular apical aneurysms experienced adverse disease complications (event rate, 10.5%/y), including sudden death, appropriate implantable cardioverter- defibrillator discharges, nonfatal thromboembolic stroke, and progressive heart failure and death. Conclusions - Patients with left ventricular apical aneurysms represent an underappreciated subset in the heterogeneous HCM disease spectrum with important clinical implications, often requiring a high index of suspicion and cardiovascular magnetic resonance for identification. Apical aneurysms in HCM are associated with substantial cardiovascular morbidity and mortality and raise novel treatment considerations.

AB - Background - Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease characterized by a diverse clinical and phenotypic spectrum. This study reports the prevalence, morphology, clinical course, and management of an underrecognized subgroup of HCM patients with left ventricular apical aneurysms. Methods and Results - Of 1299 HCM patients, 28 (2%) were identified with left ventricular apical aneurysms, including a pair of identical twins. Aneurysms were recognized at a wide age range (26 to 83 years), including 12 patients (43%) who were ≤50 years of age. Apical aneurysms varied considerably in size (maximum dimension, 10 to 66 mm), were dyskinetic/akinetic with thin rims, and were associated with transmural (and often more extensive) myocardial scarring identified by late gadolinium enhancement cardiovascular magnetic resonance. Apical aneurysms were recognized by echocardiography in only 16 of 28 patients (57%) but by cardiovascular magnetic resonance in the 12 patients undetected by echocardiography. Left ventricular chamber morphology varied; however, 19 patients (68%) showed an "hourglass" contour, with midventricular hypertrophy producing muscular narrowing and intracavitary gradients in 9 patients (74±42 mm Hg). Sarcomeric protein missense mutations known to cause other phenotypic expressions of HCM were present in 3 patients. Over 4.1±3.7 years of follow-up, 12 patients (43%) with left ventricular apical aneurysms experienced adverse disease complications (event rate, 10.5%/y), including sudden death, appropriate implantable cardioverter- defibrillator discharges, nonfatal thromboembolic stroke, and progressive heart failure and death. Conclusions - Patients with left ventricular apical aneurysms represent an underappreciated subset in the heterogeneous HCM disease spectrum with important clinical implications, often requiring a high index of suspicion and cardiovascular magnetic resonance for identification. Apical aneurysms in HCM are associated with substantial cardiovascular morbidity and mortality and raise novel treatment considerations.

KW - Aneurysm

KW - Cardioverter-defibrillators, i

KW - Heart arrest

KW - Hypertrophic cardiomyopathy

KW - Magnetic resonance imaging

KW - Mplantable

KW - Remodeling

UR - http://www.scopus.com/inward/record.url?scp=55249104494&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=55249104494&partnerID=8YFLogxK

U2 - 10.1161/CIRCULATIONAHA.108.781401

DO - 10.1161/CIRCULATIONAHA.108.781401

M3 - Article

VL - 118

SP - 1541

EP - 1549

JO - Circulation

JF - Circulation

SN - 0009-7322

IS - 15

ER -