Author + information
- Received October 6, 2016
- Revision received November 17, 2016
- Accepted November 18, 2016
- Published online February 13, 2017.
- Ethan J. Rowin, MDa,
- Barry J. Maron, MDa,
- Tammy S. Haas, RNb,
- Ross F. Garberich, MSb,
- Weijia Wang, MDa,
- Mark S. Link, MDa and
- Martin S. Maron, MDa,∗ ()
- aHypertrophic Cardiomyopathy Institute, Division of Cardiology, Tufts Medical Center, Boston, Massachusetts
- bHypertrophic Cardiomyopathy Center, Minneapolis Heart Institute Foundation, Minneapolis, Minnesota
- ↵∗Address for correspondence:
Dr. Martin S. Maron, Tufts Medical Center, #70, 800 Washington Street, Boston, Massachusetts 02111.
Background A previously under-recognized subset of hypertrophic cardiomyopathy (HCM) patients with left ventricular (LV) apical aneurysms is being identified with increasing frequency. However, risks associated with this subgroup are unknown.
Objectives The authors aimed to clarify clinical course and prognosis of a large cohort of HCM patients with LV apical aneurysms over long-term follow-up.
Methods The authors retrospectively analyzed 1,940 consecutive HCM patients at 2 centers, 93 of which (4.8%) were identified with LV apical aneurysms; mean age was 56 ± 13 years, and 69% were male.
Results Over 4.4 ± 3.2 years, 3 of the 93 patients with LV apical aneurysms (3%) died suddenly or of heart failure, but 22 (24%) survived with contemporary treatment interventions: 18 experienced appropriate implantable cardioverter-defibrillator discharges, 2 underwent heart transplants, and 2 were resuscitated after cardiac arrest. The sudden death (SD) event rate was 4.7%/year, which includes sudden death, successful resuscitation from cardiac arrest or appropriate ICD interventions triggered by VF or rapid VT. Notably, recurrent monomorphic ventricular tachycardia requiring ≥2 implantable cardioverter-defibrillator shocks occurred in 13 patients, including 6 who underwent successful radiofrequency ablation of the arrhythmic focus without ventricular tachycardia recurrence. Five non-anticoagulated patients experienced nonfatal thromboembolic events (1.1%/year), whereas 13 with apical clots and anticoagulation did not incur embolic events. There was no consistent relationship between aneurysm size and adverse HCM-related events. Rate of HCM-related deaths combined with life-saving aborted disease-related events was 6.4%/year, 3-fold greater than the 2.0%/year event rate in 1,847 HCM patients without aneurysms (p < 0.001).
Conclusions HCM patients with LV apical aneurysms are at high risk for arrhythmic sudden death and thromboembolic events. Identification of this phenotype expands risk stratification and can lead to effective treatment interventions for potentially life-threatening complications.
High spatial resolution imaging with cardiovascular magnetic resonance (CMR) has increasingly become part of routine hypertrophic cardiomyopathy (HCM) practice (1–3). CMR has allowed more frequent identification of a subset of patients with thin-walled, left ventricular (LV) apical aneurysms, often associated with regional scarring and muscular mid-cavity obstruction (4). Initial reports suggested that this subset experienced increased risk of cardiovascular morbidity and mortality including sudden death (SD), thromboembolic events, and progressive heart failure (HF) symptoms (4–18). However, these descriptions involved small numbers of patients with relatively short follow-up, and management implications for this subgroup of patients remains unclear (1,3). Therefore, we believe it is timely to offer a measure of clarity to understanding the clinical profile, prognosis, and treatment strategies for HCM patients with LV apical aneurysms, by assessing a large cohort of these patients over an extended period of time.
We retrospectively analyzed 1,940 HCM patients consecutively enrolled from 1983 to 2014 at 2 HCM centers: Minneapolis Heart Institute Foundation (n = 1,219) and Tufts Medical Center (n = 721). Left ventricular apical aneurysm was identified in 93 patients (4.8%). Initial evaluation was defined as the first clinical assessment during which an echocardiogram diagnostic of HCM was obtained. Most recent clinical assessments were obtained by telephone interview or outpatient clinic visit (n = 84), or by accessing the Social Security Death Index (n = 9) up until January 1, 2015. Follow-up duration from study entry to most recent contact or death was 4.4 ± 3.2 years (range 4 months to 14 years). Outcomes in 1,847 HCM patients from the cohort without apical aneurysm were compared with 93 HCM patients with apical aneurysm.
Decisions to implant a primary prevention implantable cardioverter-defibrillator (ICD) in 54 patients was based on assessment of current conventional SD risk markers (3). On a case-by-case basis, the apical aneurysm was judged to confer higher SD risk status, either as an arbitrator to resolve uncertain ICD decisions or alone for primary prevention after implementing a shared decision-making strategy in accord with the desires of the fully informed patient (3,4).
This study was reviewed and approved by institutional review boards of the participating institutions, Allina Health Systems and Tufts Medical Center.
Diagnosis of HCM was based on echocardiographic and/or CMR documentation of a hypertrophied, nondilated LV with wall thickness ≥13 mm, in the absence of another cardiac or systemic disease capable of producing a similar magnitude of hypertrophy during the patient’s clinical course. Apical aneurysm was defined as a discrete thin-walled dyskinetic or akinetic segment of the most distal portion of the LV chamber. Obstructive atherosclerotic coronary artery disease was excluded as a cause of LV aneurysm formation in each of the 93 study patients by: 1) absence of significant (≥50%) coronary arterial narrowing of the left anterior descending artery by conventional arteriography or computed tomography angiogram (n = 61); or 2) absent history of chest pain, coronary risk factors, and acute coronary syndrome (n = 32).
HCM-related HF or SD was defined as previously reported (19). Global LV systolic dysfunction (by convention, end-stage HCM) was defined by ejection fraction (EF) <50% at rest (3). Nonfatal adverse disease-related events were heart transplant or listing for heart transplant, appropriate ICD interventions for ventricular tachycardia (VT)/ventricular fibrillation (VF), resuscitated cardiac arrest, or thromboembolic stroke. Arrhythmic events were defined as either SD, successful resuscitation from cardiac arrest, or appropriate ICD interventions triggered by ventricular fibrillation or rapid ventricular tachycardia (rate ≥180 beats/min). The combined endpoint was an aggregate of HCM-related death and nonfatal adverse disease-related events. European Society of Cardiology (ESC) SD risk score was calculated using the clinical variables at the time of study entry for each patient with LV apical aneurysm (20).
Transthoracic echocardiographic studies were performed in a standard fashion. LV wall thickness was the maximum end-diastolic dimension within the chamber. Peak instantaneous LV outflow gradient was estimated by continuous-wave Doppler, and outflow obstruction was defined as a gradient ≥30 mm Hg at rest or with physiological exercise (1). In 16 of the 18 patients with advanced HF symptoms mitral inflow velocity and annular tissue Doppler indices signals were obtained as previously described. Peak pulsed Doppler velocities were assessed to determine early (E) and late (A) diastolic flow across the mitral valve. Tissue Doppler index of the mitral annulus was obtained from the apical 4-chamber view, and peak early tissue Doppler velocities of the septal mitral annulus (e′) were analyzed. Diastolic dysfunction was classified according to previous consensus recommendations (21).
CMR studies were obtained in 57 patients with a 1.5-T clinical scanner (Phillips Gyroscan ACS-NT, Best, the Netherlands and Sonata or Avanto, Siemens Medical, Erlangen, Germany). Cine sequences were performed in standard views with full LV coverage. Late gadolinium enhancement (LGE) images were acquired 10 to 15 min after intravenous administration of 0.2 mmol/kg gadolinium-DTPA using breath-held segmented inversion-recovery sequence. LGE quantification was performed by manually adjusting grayscale threshold to visually define LGE, expressed as a proportion of total LV myocardium. Aneurysm size was characterized as the maximum transverse dimension measured by CMR (n = 57) or echocardiography (n = 36) in the 4-chamber long-axis view, and characterized as small (<2 cm); medium (2 to 4 cm); or large (>4 cm).
Data are displayed as mean ± standard deviation for continuous variables, and as proportions for categorical variables. The Student t test assessed the statistical significance of continuous variables, and chi-square or Fisher exact test analyzed categorical variables. Values are p < 0.05 were considered significant and were presented 2-sided where appropriate.
For patients with known survival and event status, the fraction at each follow-up interval was estimated by the Kaplan-Meier method. Differences in survival between groups were assessed using the log-rank test. Survival analysis calculations of nonfatal adverse HCM-related events excluded patients with either resuscitated cardiac arrest or appropriate ICD intervention occurring before initial clinical evaluation at the participating institutions. No adjustments were made to account for clustered observations within families. All statistical calculations and plots were done with Stata version 11.2 (College Station, Texas).
Prevalence of LV apical aneurysm
LV apical aneurysm was identified in 93 of 1,940 HCM patients (4.8%; 95% confidence interval: 3.8% to 5.7%) (Table 1), including in 1 pair of siblings and 1 pair of twins. Selected clinical data from 28 of these patients were part of a previous analysis (4). The proportion of patients with LV apical aneurysms was similar between the 2 centers, Minneapolis Heart Institute (n = 52; 4.3%) and Tufts Medical Center (n = 41; 5.7%; p = 0.19 for difference). LV apical aneurysms could be identified by echocardiography in 50 of the 93 patients (54%), including 32 patients with medium or large aneurysms and 18 patients with smaller aneurysms. Of these 50 patients, identification of the apical aneurysm was enhanced by contrast in 21 (42%), including 11 identified solely by contrast enhancement. LV apical aneurysms were identified by CMR only (n = 39) or computed tomography (n = 4) in 43 (46%) patients, including 3 in whom contrast echocardiography failed to identify a small aneurysm (Central Illustration).
Aneurysm size ranged from 1.1 to 5.6 cm (median 1.8 cm; mean 2.1 ± 5.6 cm) (Figure 1). Two distinct patterns of LV hypertrophy were identified: 1) segmental wall thickening confined to the distal LV in 47 patients (51%); and 2) diffuse thickening of the septum and free wall, resulting in a “hourglass” configuration with mid-ventricular muscular narrowing creating discrete proximal and distal chambers in 46 patients (49%), 34 of whom had intraventricular mid-cavity pressure gradients of 44 ± 26 mm Hg (range 20 to 150 mm Hg). In 4 other patients without mid-cavity muscular narrowing, LV outflow tract obstruction was due to typical mitral valve systolic anterior motion (SAM) with septal contact (78 ± 15 mm Hg, range 65 to 100 mm Hg) (1). In 57 patients with CMR imaging, the aneurysm rim measured 1.6 ± 0.3 mm (range 1.0 to 2.4 mm).
Late gadolinium enhancement
Each of the 57 study patients imaged by contrast-enhanced CMR had transmural LGE in the aneurysm rim. In addition, high signal intensity LGE was evident in areas of the septum and LV wall contiguous with the aneurysm rim in 30 patients (53%) (Figure 1 and Central Illustration). In the 57 patients, LGE occupied 7 ± 7% of LV mass (range 1 to 29), including 7 with extensive/diffuse LGE (≥15% of LV mass).
Serial observations of aneurysm size
There was no consistent relation between aneurysm size and outcome endpoints. Paired imaging studies were available in 25 patients and showed no significant change in aneurysm size for the group over a follow-up of 4.2 ± 3.0 years; maximum transverse dimension width was 2.4 ± 1.0 mm at study entry and 2.6 ± 1.1 mm at follow-up (p = 0.90). While aneurysm size appeared to change little in 24 patients, in 1 patient a significant increase in dimension (2.2 to 4.2 cm, 1.9-fold) was observed over 8 years (Figure 2). Over the follow-up period, each aneurysm has remained intact without rupture.
At study entry, the 93 aneurysm patients were 56 ± 13 years of age (range 18 to 86 years of age) (Table 1). Maximum LV wall thickness was 19 ± 5 mm (range 13 to 35 mm), and 69% were male. Most patients were asymptomatic or mildly symptomatic (New York Heart Association functional class I/II; n = 87). EF was 60 ± 10%, and in 10 patients was <50%. Of these 10 patients, EF was decreased in 5 predominantly due to the presence of a medium or large sized akinetic/dyskinetic aneurysm; in the other 5 patients systolic dysfunction extended beyond the aneurysm, involving the entire LV chamber.
Of 54 patients who underwent ICD placement for primary prevention, the apical aneurysm was specifically considered in this decision in 33, including 19 in whom the aneurysm alone was judged to be high-risk, and 14 in whom the aneurysm acted as an arbitrator of risk in patients with 1 established or ambiguous risk factor. ICD was placed for secondary prevention in 2 additional patients after successful resuscitation from out-of-hospital cardiac arrest. Of the 93 aneurysm patients, 28 (30%) had a family history of HCM and/or a disease-causing sarcomere mutation (Table 1).
Over the follow up period, 80 of the 93 study patients (86%) survived and 13 (14%) died (Figure 3); all-cause mortality rate was 3.4%/year.
In 3 patients (3.2%; 0.8%/year) (Table 2), death was attributable to HCM at 42 ± 2 years of age (range 39 to 44 years). One patient died suddenly with a small apical aneurysm but without conventional high-risk markers. Two other nonobstructive patients died of advanced HF in the end-stage (EF <50%).
Ten patients died of causes unrelated to HCM at 70 ± 17 years (range 37 to 89 years): 4 due to cancer, 3 from advanced pulmonary disease, 2 of liver failure, and 1 at aortic valve replacement. Of these 10 patients, 3 had an adverse non-fatal HCM related event 2 to 13 years before death, including thromboembolic stroke in 2 and appropriate ICD intervention in one.
Nonfatal adverse HCM-related events
Over the follow-up period, 26 of the 80 surviving patients (33%) had nonfatal, adverse disease-related events (Figure 3), whereas the remaining 54 (67%) were free of adverse events after 4.5 ± 3 years (up to 12 years).
Appropriate ICD interventions and resuscitated cardiac arrests
Of the 54 patients with primary prevention ICDs, 18 experienced an aborted SD event with ≥1 appropriate ICD interventions for monomorphic VT (n = 16) or VF (n = 2) (4.0%/year) (Table 2), including 9 of 33 (27%) who were implanted solely or largely for a perceived increase in SD risk related specifically to the apical aneurysm. Initial ICD discharge occurred at 52 ± 13 years (range 29 to 71 years), and interval from implant to first appropriate ICD intervention was 3.5 ± 3.3 years. Two other patients were successfully resuscitated from out-of-hospital cardiac arrest. Eighteen of these 20 patients have survived 4.7 ± 3.5 years after the initial appropriate ICD intervention/cardiac arrest, currently mean age 56 ± 13 years (range 42 to 72 years). The majority of patients with SD events (15 of 21; 71%) had medium or large aneurysms.
Notably, 13 of the 18 patients (70%) had ≥2 appropriate interventions including 4 patients with ≥4 interventions (range to 10). Eight patients with ICDs experienced electrical VT storms, with ≥3 sustained episodes of VT over 24 h.
Seven patients with recurrent symptomatic monomorphic VT (including 5 with a VT storm) underwent mapping and radiofrequency ablation to obliterate a ventricular arrhythmia focus in the area of scar contiguous with the rim of the aneurysm (Central Illustration). Two patients had 1 ablation and 5 required multiple procedures (up to 4) to successfully ablate the arrhythmia focus. After the most recent radiofrequency ablation, 6 of the 7 patients had no further recurrence of VT over 1.9 ± 1.1 years (range to 6 years).
Nonfatal embolic events occurred in 5 patients (5.0%; 1.1%/year), including cerebral (n = 3), myocardial (n = 1), and renal infarction (n = 1). At the time of these events, patients were in sinus rhythm and did not receive anticoagulation. Each patient was without another identifiable thromboembolic source, and the event was judged secondary to clot formation in the dyskinetic/akinetic apex. In 13 other patients without a thromboembolic event, a thrombus was identified in the apical aneurysm by CMR or cardiac computed tomography only (n = 6), contrast echocardiography (n = 4), or both echocardiography and CMR (n = 3) (Central Illustration). Apical thrombi or embolic events occurred most commonly in medium and large aneurysms (14 of 18; 78%), but notably in 4 patients with small (<2 cm) aneurysms (Table 3). All 18 patients with apical thrombus or an embolic event were subsequently treated with anticoagulants, predominantly warfarin (n = 14), and none have experienced a thromboembolic event over 4.0 ± 2.8 years. Anticoagulation therapy for primary prevention of thromboembolism was offered to the remaining 75 apical aneurysm patients, of whom 25 elected to initiate anticoagulants, including warfarin (n = 21), each without a thromboembolic event.
Advanced HF symptoms were present in 18 aneurysm patients (19%), including 6 in class III/IV at study entry and 12 who progressed to severe symptoms. These symptoms were associated with systolic dysfunction in 8, and preserved EF in 10. No consistent relation was evident between aneurysm size and advanced HF, although 8 patients had large or medium-sized aneurysms that could potentially contribute to symptoms. There was no consistent relationship between diastolic filling patterns and development of advanced HF (grade I in 7; grade II in 5; grade III in 4) (Online Table 1). In addition, these patients showed a wide range in E/E′ (range 7 to 26), including 10 with E/e′ ≤15, most consistent with indeterminate or normal LV filling pressures (Online Table 1).
In the 18 patients with advanced HF symptoms, 2 patients received a heart transplant and have survived without cardiovascular symptoms over 3.5 and 5.4 years. Eight other patients died, either in the setting of disabling HF (n = 1), post-operatively after aneurysm resection (n = 1), or due to non–HCM-related causes (n = 6), and 6 have survived without transplant, including 5 who declined or did not qualify, and 1 currently listed. The remaining 2 patients (both with small aneurysms) had severe limiting HF symptoms in New York Heart Association functional class III due to LV outflow obstruction from marked SAM (gradients 70 and 100 mm Hg), and underwent surgical myectomy with relief of symptoms over 4 and 5 years follow-up.
Thirty-four of the 93 patients (37%) had intraventricular mid-cavity pressure gradients (44 ± 26 mm Hg) in the absence of subaortic obstruction due to SAM. Of these 34 patients, only 5 (15%) developed advanced HF symptoms (2.5%/year). Of the 55 patients without mid-cavity (or subaortic) obstruction, 11 developed advanced HF symptoms (20%; 2.7%/year), not significantly different from patients with mid-cavity obstruction (p = 0.53).
Overall event rates
Combining HCM mortality and nonfatal adverse disease-related events apical aneurysm patients experienced a 3-fold greater event rate than the 1,847 HCM patients without aneurysms (6.4%/year vs. 2.0%/year; p < 0.001) (Figures 4 and 5), as well as a 5-fold higher rate of arrhythmic events (4.7%/year vs. 0.9%/year; p < 0.001) (Central Illustration). HCM-related mortality was low both in patients with and those without apical aneurysms (0.8%/year vs. 0.6%/year; p = 0.64) (Figure 4).
Thromboembolic events were 2-fold more common in patients with apical aneurysms than non-aneurysm patients (1.1%/year vs. 0.5%/year), although this difference did not achieve statistical significance (p = 0.06). In 13 other patients without embolic events, a thrombus was identified in the aneurysm.
ESC SD risk score
Of the 21 LV aneurysm patients with arrhythmic events, only 2 (10%) were judged at high risk sufficient to recommend an ICD based on the ESC risk score (>6%/5 years). Thirteen of the 21 patients (62%) were judged to be at the lowest risk (<4%/5 years), considered inconsistent with an ICD recommendation.
Within the clinical spectrum of HCM, increased recognition of an unusual phenotype with thin-walled, scarred LV apical aneurysms has recently emerged (4,11,22). This finding raises a number of management considerations, including risk stratification for SD (4,8–10,23). However, due to the relatively small numbers of previously recognized aneurysm patients and short follow-up periods, the precise risk and clinical implications associated with this subgroup have remained incompletely defined (4–18).
Our data underscore concerns that HCM patients with LV apical aneurysm represent a high-risk subgroup within the disease spectrum, with more than 25% having died from their disease or experienced an adverse-disease–related complication such as ICD interventions for VT/VF, resuscitated out-of-hospital cardiac arrest, progressive HF requiring cardiac transplant or transplant listing, or thromboembolic events. Indeed, HCM patients with apical aneurysm experienced an adverse event rate of 6.4%/year, more than 3-fold greater than that of our HCM cohort without aneurysms.
Areas of myocardial scarring contiguous with the scarred rim of the aneurysm at the junction of viable and abnormal tissue where re-entry circuits occur represent the primary arrhythmogenic substrate for the generation of malignant ventricular tachyarrhythmias independent of aneurysm size, and also are where effective radiofrequency ablation has been targeted (24–31).
Indeed, about 20% of the aneurysm patients in our cohort experienced potentially life-saving ICD interventions for VT/VF. In almost one-half of patients, an ICD was placed solely or largely because of the aneurysm itself. This translates to an arrhythmic event rate of almost 5%/year, more than 5-fold greater than that of our cohort of patients without aneurysms, and equivalent to other high-risk HCM populations with conventional SD risk markers (23).
SD events in the aneurysm patients occurred over a wide range of ages (7 patients ≥60 years), suggesting that advanced age may not be associated with lower risk in this particular subgroup (1,2). Nevertheless, the HCM-related mortality rate reported here was low (0.8%/year), similar to that of HCM patients without aneurysms, and attributable to our aggressive management strategy of recommending primary prevention ICDs for HCM patients with apical aneurysms. Of particular note, a subgroup of HCM patients has been recognized to be at risk for SD despite the absence of conventional markers (32). It is possible that in some of these patients, undetected LV apical aneurysms may have been responsible for SD.
A striking proportion of aneurysm patients with ICD events (70%) experienced multiple recurrent interventions for ventricular tachyarrythmias, including 9 patients with ≥4 separate arrhythmic events aborted by the ICD, or a VT storm. This frequent occurrence of ventricular tachyarrhythmias in implanted patients differs distinctly from other high-risk HCM patients, in which ICD interventions are uncommon over long periods of time (23). These arrhythmic events were predominantly monomorphic VT (90%) and amenable to successful mapping and radiofrequency ablation (26–31). Such apical aneurysm patients represent the only subgroup within the broad spectrum of HCM for which VT ablation is an effective therapeutic option for refractory ventricular tachyarrthymias (24–31). Notably, the ESC mathematical risk score model to identify HCM patients at high risk who become ICD candidates does not include LV apical aneurysm patients (20).
A substantial proportion of our patients were identified with thrombus formation within the aneurysm or experienced a thromboembolic event, including 4 patients who had only small aneurysms (6). This observation suggests that the dyskinetic/akinetic apical aneurysm, can provide a structural nidus for intracavitary thrombus formation independent of size (7,8), raising strong consideration for anticoagulation in all patients with aneurysms. No embolic events occurred over the follow-up period in patients receiving prophylactic anticoagulation.
Advanced HF symptoms (class III/IV) occurred in a relatively small subgroup and were largely associated with adverse LV remodeling, either with systolic dysfunction or with preserved EF (33–35). The prevalence of end-stage HCM observed was higher than that previously reported in general HCM populations (33), suggesting that the remodeling process responsible for aneurysm formation may, in some susceptible patients, involve other portions of the LV chamber. In about 20% of these HF patients, the aneurysm was large and could have contributed to HF, but in 50% of these patients, aneurysms were small and probably should be regarded only as markers for adverse clinical course.
Additionally, the intracavitary gradients associated with mid-cavity muscular apposition are, in our judgment, unlikely to be responsible for limiting HF symptoms. Only a small minority of aneurysm patients with mid-cavity obstruction developed advanced symptoms—not significantly different then aneurysm patients without mid-cavity obstruction. This would be explained by the observation that only a portion of the LV chamber, the thin-walled, dyskinetic (fibrotic) aneurysm, is exposed to increased systolic pressures from the mid-cavity obstruction. It is unlikely that increased LV systolic pressures confined to the nonviable myocardium could promote the same pathophysiological mechanisms responsible for HF symptoms as in the much more common form of subaortic obstruction due to SAM (1). For these reasons, we have not advocated surgical mid-ventricular muscular resection for such patients. Finally, because no study patient experienced ventricular rupture over follow-up, despite marked thinning of the aneurysm wall, our data do not support prophylactic surgical resection of the aneurysm itself.
We did not identify a consistent relation between size of the aneurysms and clinical outcome. However, about 20% of thromboembolic events and apical clot formation occurred in small aneurysms, while about 70% of SD events were in patients with medium-to-large aneurysms.
Nearly one-third of our aneurysm patients have a family history of HCM and/or a disease-causing sarcomeric protein mutation, although a specific mutation does not appear responsible for this unique phenotype (4). Nevertheless, genetic predisposition to this phenotype is suggested by aneurysm identification in 2 pairs of siblings (including 1 set of twins) among this patient cohort (7,17).
In our study population, the prevalence of LV apical aneurysms was about 5%, although potentially an underestimate, given that all aneurysms cannot be reliably detected by echocardiography. In addition, the number of paired imaging studies was small and more extended follow up may be necessary to clarify the uncertainty regarding change in aneurysm size overtime.
HCM patients with LV apical aneurysms represent a high-risk subgroup associated with a number of adverse disease-related consequences, including arrhythmic SD events, thromboembolism, and end-stage HF. The SD event rate of almost 5%/year substantiates that LV apical aneurysms represent a novel risk marker in HCM. Because aneurysms are uncommon within the HCM disease spectrum, a high index of suspicion is necessary for detection often requiring CMR or contrast echocardiography. Complications of apical aneurysms in HCM are effectively treatable with contemporary management strategies, including primary prevention ICD therapy, radiofrequency ablation for recurrent VT, and prophylactic anticoagulation for stroke prevention.
COMPETENCY IN MEDICAL KNOWLEDGE: Patients with hypertrophic cardiomyopathy and LV apical aneurysm are at increased risk of sudden death and thromboembolic events for which effective treatment modalities are available, including implantable defibrillators, anticoagulation, and catheter-based ablation procedures.
TRANSLATIONAL OUTLOOK: Future studies should focus on the mechanism of LV apical aneurysm formation in patients with hypertrophic cardiomyopathy and the development of therapeutic interventions to mitigate aneurysm formation.
Dr. Barry Maron is a consultant for Gene Dx. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.
- Abbreviations and Acronyms
- cardiac magnetic resonance imaging
- ejection fraction
- European Society of Cardiology
- hypertrophic cardiomyopathy
- heart failure
- implantable cardioverter-defibrillator
- late gadolinium enhancement
- left ventricular
- systolic anterior motion (of the mitral valve)
- sudden death
- ventricular fibrillation
- ventricular tachycardia
- Received October 6, 2016.
- Revision received November 17, 2016.
- Accepted November 18, 2016.
- 2017 American College of Cardiology Foundation
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