Hypertrophic cardiomyopathy and left ventricular non-compaction:Distinct diseases or variant phenotypes of a single condition?

Hypertrophic cardiomyopathy(HCM)is a genetically determined myocardial disease characterized by an increased thickness of the left ventricle(LV)wall that cannot be solely attributed to abnormal loading conditions.HCM may present with an intraventricular or LV outflow tract obstruction,diastolic dysfunction,myocardial fibrosis and/or ventricular arrhythmias.Differentiating HCM from other diseases associated with LV hypertrophy,such as hypertension,aortic stenosis,or LV non-compaction(LVNC),can at times be challenging.LVNC is defined by excessive LV trabeculation and deep recesses between trabeculae,often accompanied by increased LV myocardial mass.Previous studies indicate that the LVNC phenotype may be observed in up to 5%of the general population;however,in most cases,it is a benign finding with no impact on clinical outcomes.Nevertheless,LVNC can occasionally lead to LV systolic dysfunction,manifesting as a phenotype of dilated or non-dilated left ventricular cardiomyopathy,with an increased risk of thrombus formation and arterial embolism.In extreme cases,where LVNC is associated with a very thickened LV wall,it can even mimic HCM.There is growing evidence of an overlap between HCM and LVNC,including similar genetic mutations and clinical presentations.This raises the question of whether HCM and LVNC represent different phenotypes of the same disease or are,in fact,two distinct entities.

Predicting apical hypertrophic cardiomyopathy using T-wave inversion:Three case reports

BACKGROUND Apical hypertrophic cardiomyopathy(AHCM)is a subtype of hypertrophic cardiomyopathy.Due to its location,the thickening of the left ventricular apex can be missed on echocardiography.Giant negative T waves(GNTs)in left-sided chest leads are the hallmark electrocardiogram(ECG)change of AHCM.CASE SUMMARY The first patient was a 68-year-old woman complaining of recurrent chest tightness persisting for more than 3 years.The second was a 59-year-old man complaining of spasmodic chest tightness persisting for more than 2 years.The third was a 55-year-old woman complaining of recurrent chest pain persisting for 4 mo.In all three cases,GNTs were observed several years prior to apical cardiac hypertrophy after other causes of T-wave inversion were ruled out.CONCLUSION Electrophysiological abnormalities of AHCM appear earlier than structural abnormalities,confirming the early predictive value of ECG for AHCM.

Specific alterations of regional myocardial work in strength-trained athletes using anabolic androgenic steroids compared to athletes with genetic hypertrophic cardiomyopathy

Background:Strength-trained athletes using anabolic androgenic steroids(AAS)have left ventricular(LV)hypertrophy and myocardial fibrosis that can lead to sudden cardiac death.A similar feature was described in athletes with hypertrophic cardiomyopathy(HCM),which complicates the diagnosis for clinicians.In this context,we aimed to compare the LV function of the 2 populations by measuring global and regional strain and myocardial work using speckle-tracking imaging.Methods:Twenty-four strength-trained asymptomatic athletes using AAS(AAS-Athletes),22 athletes diagnosed with HCM(HCM-Athletes),and 20 healthy control athletes(Ctrl-Athletes)underwent a resting echocardiography to assess LV function.We evaluated LV global and regional strains and myocardial work,with an evaluation of the constructive work(CW),wasted work,and work efficiency(WE).Results:Compared to Ctrl-Athletes,both AAS-Athletes and HCM-Athletes had a thicker interventricular septum,with maj ored values in HCM-Athletes.LV strain was reduced in AAS-Athletes and even more in HCM-Athletes.Consequently,global WE was significantly diminished in both AAS and HCM-Athletes(93%±2%in Ctrl-Athletes,90%±4%in AAS-Athletes,and 90%±5%in HCM-Athletes(mean±SD);p<0.05).Constructive work and WE regional analysis showed specific alterations,with the basal septal segments preferentially affected in AAS-Athletes,and both septal and apical segments affected in HCM-Athletes.Conclusion:The regional evaluation of myocardial work reported specific alterations of the major LV hypertrophy induced by the regular use of AAS compared to the LV hypertrophy due to HCM.This finding could help clinicians to differentiate between these 2 forms of pathological hypertrophy.

Bicuspid aortic valve with associated aortopathy, significant left ventricular hypertrophy or concomitant hypertrophic cardiomyopathy: A diagnostic and therapeutic challenge

Due to its prevalence of 0.5%to 2%in the general population,with a 75%predominance among men,bicuspid aortic valve is the most common congenital heart defect.It is frequently accompanied by other cardiac congenital anomalies,and clinical presentation can vary significantly,with stenosis being the most common manifestation,often resulting in mild to moderate concentric hypertrophy of the left ventricle.Echocardiography is the primary diagnostic modality utilized for establishing the diagnosis,and it is often the sole diagnostic tool relied upon by clinicians.However,due to the heterogeneous clinical presentation and possible associated anomalies(which are often overlooked in clinical practice),it is necessary to employ various diagnostic methods and persist in finding the accurate diagnosis if multiple inconsistencies exist.By employing this approach,we can effectively manage these patients and provide them with appropriate treatment.Through a clinical case from our practice,we provide an overview of the literature on bicuspid aortic valve with aortophaty and the possible association with hypertrophic cardiomyopathy,diagnostic methods,and treatment options.This review article highlights the critical significance of achieving an accurate diagnosis in patients with bicuspid aortic valve and significant left ventricular hypertrophy.It is crucial to exclude other possible causes of left ventricular outflow tract obstruction,such as sub-or supra-aortic obstructions,and hypertrophic cardiomyopathy.

Myocardial Perfusion Abnormalities in Patients with Hereditary Hypertrophic Cardiomyopathy: A Study of Three Cases and Review of the Literature

Introduction: Hypertrophic cardiomyopathy (HCM) belongs to the very heterogeneous group of cardiomyopathies. This study aimed to study myocardial perfusion abnormalities on scintigraphy and assess the risk of sudden death from ventricular arrhythmia in hereditary sarcomeric HCM. Patients and Methods: This is a retrospective and prospective descriptive study over 18 months (January 01, 2021, to July 31, 2022) on the records of patients over 18 with the diagnosis of hypertrophic sarcomeric cardiomyopathy with or without ventricular rhythm disorders and who have undergone myocardial scintigraphy. Results: Three patients were included. The average age of our patients was 66 years old. Dyspnea is the primary symptomatology found in our patients. One patient presented with syncope and unsustained ventricular tachycardia. His risk score for sudden death from ESC at five years is estimated at 6.45%, and the patient received an ICD in primary prevention. The average sudden death risk score of our patients was 3.78%. The mean LV wall thickness was 20 mm. The mean maximum left intraventricular gradient was 39 mmHg. Myocardial fibrosis was present in all our patients. Myocardial scintigraphy was normal in all cases. Conclusion: Hypertrophic cardiomyopathy is a very heterogeneous group of cardiomyopathies. The rhythmic risk is multifactorial and constitutes a significant prognostic factor.

Mitral Valve Abnormalities during Hypertrophic Cardiomyopathy: Study on a Cohort in Dakar

INTRODUCTION: Mitral valve abnormalities in hypertrophic cardiomyopathy (HCM) are becoming increasingly well defined, and their role in intra-ventricular obstruction is well defined. The aim of this study was to evaluate mitral valve abnormalities in patients with HCM. PATIENTS AND METHODS: We conducted a descriptive cross-sectional study from May 1 to July 1, 2022 in the Cardiology Department of Aristide Le Dantec Hospital. All patients with HCM aged at least 18 years old were included. The parameters studied concerned mainly the mitral valvular apparatus (papillary muscles abnormalities, leaflet length, mitral insufficiency). RESULTS: A total of 10 patients were included. Mean age was 58.3. On Doppler echocardiography, mean interventricular septal thickness was 20.6 mm. The mean maximum intra-ventricular gradient was 21.06 mmHg. Two patients had significant intraventricular obstruction. The mean length of the anterior mitral valve leaflet was 28.7 ± 3.55 mm, with extremes of 22 and 33 mm. The posterior mitral leaflet averaged 14.8 ± 3.16 mm. Nine (9) out of 10 patients had an elongated anterior valve leaflet. Elongation of the posterior leaflet was noted in 6 patients. With regard to papillary muscle position, 6 patients had an anterolateral ascending pillary muscle. These patients had a mean intra-ventricular gradient of 25 mmHg, compared with 16.5 mmHg in the others cases. We found no direct insertion on the mitral valve. Mitral insufficiency was noted in 9 patients, including 5 with mild insufficiency and 4 with moderate one. CONCLUSION: Mitral valve abnormalities in HCM appear to be frequent. They should be analyzed for a better diagnostic and therapeutic approach.

Different clinical characteristics and outcomes of hypertrophic cardiomyopathy with and without hypertension:seeking the truth

OBJECTIVE To determine the different clinical characteristics and outcomes of hypertrophic cardiomyopathy(HCM)patients with and without hypertension(HT).METHODS A total of 696 HCM patients were included in this study and all HCM diagnoses were confirmed by the genetic test.Patients were analyzed separately in the septal reduction therapy(SRT)cohort and the non-SRT cohort.The primary endpoint was cardiovascular death and the secondary endpoint was all-cause death.Outcome analyses were conducted to evaluate the associations between HT and outcomes in HCM.Medications before enrollment and at discharge were collected in the post-hoc analyses.RESULTS HCM patients without HT were younger,had a lower body mass index,were more likely to have a family history of HCM,and had a smaller left ventricular(LV)end-diastolic diameter than those with HT in both cohorts.A thicker LV wall,a higher level of N-terminal pro-B-type natriuretic peptide,and a higher extent of LV late gadolinium enhancement were additionally observed in patients without HT in the non-SRT cohort.The presence of HT did not alter the distribution pattern of late gadolinium enhancement,as well as the constituent ratio of eight disease-causing sarcomeric gene variants in both cohorts.Outcome analyses showed that in the non-SRT cohort,patients without HT had higher risks of cardiovascular death(HR=2.537,P=0.032)and all-cause death(HR=3.309,P=0.032).While such prognostic divergence was not observed in the SRT cohort.Further post-hoc analyses in the non-SRT cohort found that patients without HT received fewer non-dihydropyridine calcium channel blockers and angiotensinconverting enzyme inhibitors/angiotensin receptor blockers before enrollment and at discharge.CONCLUSIONS HCM patients without HT had worse clinical conditions and higher mortality than patients with HT overall,which may result from active medical therapy in HT patients.Active SRT may have a substantial de-risking effect on patients meeting the indications.

Clinical outcome of cardiac resynchronization therapy in dilated-phase hypertrophic cardiomyopathy

Backgrounds Clinical trials have demonstrated that cardiac resynchronization therapy （CRT） is effective in patients with ＂non-is- chemic cardiomyopathy＂. However, patients with dilated-phase hypertrophic cardiomyopathy （DHCM） have been generally excluded from such trials. We aimed to compare the clinical outcome of CRT in patients with DHCM, idiopathic dilated cardiomyopathy （IDCM）, or ischemic cardiomyopathy （ICM）. Methods A total of 312 consecutive patients （DHCM： n = 16; IDCM： n = 231; ICM： n = 65） undergoing CRT in Fuwai hospital were studied respectively. Response to CRT was defmed as reduction in left ventricular end-systolic volume （LVESV） _〉 15% at 6-month follow-up. Results Compared with DHCM, IDCM was associated with a lower total mortality （HR： 0.35, 95% CI： 0.13-0.90）, cardiac mortality （HR： 0.29; 95% CI： 0.11-0.77）, and total mortality or heart failure （HF） hospitalizations （HR： 0.34, 95% CI： 0.17-0.69）, independent of known confounders. Compared with DHCM, the total mortality, cardiac mortality and total mortality or HF hospitalizations favored ICM but were not statistically significant （HR： 0.59, 95% CI： 0.22-1.61; HR： 0.59, 95% CI： 0.21-1.63; HR： 0.54, 95% CI： 0.26-1.15; respectively）. Response rate to CRT was lower in the DHCM group than the other two groups although the differences didn＇t reach statistical significance. Conclusions Compared with IDCM, DHCM was associated with a worse outcome after CRT. The clinical outcome of DHCM patients receiving CRT was similar to or even worse than that of ICM patients. These indicate that DHCM behaves very differently after CRT.

Hypertrophic cardiomyopathy secondary to deficiency in lysosomeassociated membrane protein-2: A case report

BACKGROUND Danon disease(DD),in which mutations in the X-linked lysosome-associated membrane protein-2(LAMP-2)gene result in hypertrophic cardiomyopathy,is a rare disease,reported primarily in small samples or cases.However,with the development of cardiac magnetic resonance imaging and genetic technology in recent years,the number of reports has increased.CASE SUMMARY We report a case of DD in an adolescent male patient,confirmed by genetic testing.The patient was admitted to our hospital with complaints of a three-year history of chest tightness and shortness of breath.His preliminary clinical diagnosis is hypertrophic cardiomyopathy.Our report includes the patient’s clinical course from hospital admission to death,step-by-step diagnosis,treatment course,and noninvasive imaging features.We highlight how a noninvasive diagnostic approach,based solely on clinical and imaging“red flags”for DD,can be used to achieve a diagnosis of DD with a high degree of confidence.CONCLUSION DD is a very dangerous cardiomyopathy,and it is necessary to achieve early diagnosis and treatment.

WJC 6~th Anniversary Special Issues(3):Cardiomyopathy Hypertrophic cardiomyopathy in 2013:Current speculations and future perspectives

Hypertrophic cardiomyopathy(HCM),the most variable cardiac disease in terms of phenotypic presentation and clinical outcome,represents the most common inherited cardiomyopathic process with an autosomal dominant trait of inheritance.To date,more than 1400 mutations of myofilament proteins associated with the disease have been identified,most of them "private" ones.This striking allelic and locus heterogeneity of the disease certainly complicates the establishment of phenotype-genotype correlations.Additionally,topics pertaining to patients' everyday lives,such as sudden cardiac death(SCD)risk stratification and prevention,along with disease prognosis,are grossly related to the genetic variation of HCM.This review incorporates contemporary research findings and addresses major aspects of HCM,including preclinical diagnosis,genetic analysis,left ventricular outflow tract obstruction and SCD.More specifically,the spectrum of genetic analysis,the selection of the best method for obstruction alleviation and the need for a unique and accuratefactor for SCD risk stratification are only some of the controversial HCM issues discussed.Additionally,future perspectives concerning HCM and myocardial ischemia,as well as atrial fibrillation,are discussed.Rather than enumerating clinical studies and guidelines,challenging problems concerning the disease are critically appraised by this review,highlighting current speculations and recommending future directions.

Apical hypertrophic cardiomyopathy

We describe a patient with asymptomatic apical hypertrophic cardiomyopathy(AHCM)who later developed cardiac arrhythmias,and briefly discuss the diagnostic modalities,differential diagnosis and treatment option for this condition.AHCM is a rare form of hypertrophic cardiomyopathy which classically involves the apex of the left ventricle.AHCM can be an incidental finding,or patients may present with chest pain,palpitations,dyspnea,syncope,atrial fibrillation,myocardial infarction,embolic events,ventricular fibrillation and congestive heart failure.AHCM is frequently sporadic,but autosomal dominant inheritance has been reported in few families.The most frequent and classic electrocardiogram findings are giant negative T-waves in the precordial leads which are found in the majority of the patients followed by left ventricular(LV)hypertrophy.A transthoracic echocardiogram is the initial diagnostic tool in the evaluation of ACHM and shows hypertrophy of the LV apex.AHCM may mimic other conditions such as LV apical cardiac tumors,LV apical thrombus,isolated ventricular non-compaction,endomyocardial fibrosis and coronary artery disease.Other modalities,including left ventriculography,multislice spiral computed tomography,and cardiac magnetic resonance imagings are also valuable tools and are frequently used to differentiate AHCH from other conditions.Medications used to treat symptomatic patients with AHCM include verapamil,beta-blockers and antiarrhythmic agents such as amiodarone and procainamide.An implantable cardioverter defibrillator is recommended for high risk patients.

Hypertrophic cardiomyopathy: Can the noninvasive diagnostic testing identify high risk patients?

Hypertrophic cardiomyopathy(HCM) is the most common cause of sudden cardiac death(SCD) in the young, particularly among athletes. Identifying high risk individuals is very important for SCD prevention. The purpose of this review is to stress that noninvasive diagnostic testing is important for risk assessment. Extreme left ventricular hypertrophy and documented ventricular tachycardia and fibrillation increase the risk of SCD. Fragmented QRS and T wave inversion in multiple leads are more common in high risk patients. Cardiac magnetic resonance imaging provides complete visualization of the left ventricular chamber, allowing precise localization of the distribution of hypertrophy and measurement of wall thickness and cardiac mass. Moreover, with late gadolinium enhancement, patchy myocardial fibrosis within the area of hypertrophy can be detected, which is also helpful in risk stratification. Genetic testing is encouraged in all cases, especially in those with a family history of HCM and SCD.

Multimodality imaging in apical hypertrophic cardiomyopathy

Apical hypertrophic cardiomyopathy(AHCM) is a relatively rare morphologic variant of HCM in which the hypertrophy of myocardium is localized to the left ventricular apex. Symptoms of AHCM might vary from none to others mimic coronary artery disease including acute coronary syndrome, thus resulting in inappropriate hospitalization. Transthoracic echocardiography is the firstline imaging technique for the diagnosis of hypertrophic cardiomyopathies. However, when the hypertrophy of the myocardium is localized in the ventricular apex might results in missed diagnosis. Aim of this paper is to review the different imaging techniques used for the diagnosis of AHCM and their role in the detection and comprehension of this uncommon disease.

Speckle tracking echocardiography to assess regional ventricular function in patients with apical hypertrophic cardiomyopathy

AIM To explore regional systolic strain of midwall and endocardial segments using speckle tracking echocardiography in patients with apical hypertrophic cardiomyopathy(HCM).METHODS We prospectively assessed 20 patients(mean age 53 ± 16 years,range:18-81 years,10 were male),with apical HCM. We measured global longitudinal peak systolic strain(GLPSS) in the midwall and endocardium of the left ventricle. RESULTS The diastolic thickness of the 4 apical segments was 16.25 ± 2.75 mm. All patients had a normal global systolicfunction with a fractional shortening of 50% ± 8%. In spite of supernormal left ventricular(LV) systolic function,midwall GLPSS was decreased in all patients,more in the apical(-7.3% ±-8.8%) than in basal segments(-15.5% ±-6.93%),while endocardial GLPPS was significantly greater and reached normal values(apical:-22.8% ±-7.8%,basal:-17.9% ±-7.5%). CONCLUSION This study shows that two-dimensional strain was decreased mainly confined to the mesocardium,while endocardium myocardial deformation was preserved in HCM and allowed to identify subclinical LV dysfunction. This transmural heterogeneity in systolic strain had not been previously described in HCM and could be explained by the distribution of myofibrillar disarray in deep myocardial areas. The clinical application of this novel finding may help further understanding of the pathophysiology of HCM.

Left Ventricular Regional Systolic Function in Patient with Hypertrophic Cardiomyopathy by Quantitative Tissue Velocity Imaging

The left ventricular regional systolic functions in patients with hypertrophic cardiomyopathy （HCM） were assessed by using quantitative tissue velocity imaging （QTVI）. Left ventricular （LV） regional myocardial velocity along long- and short-axis in 31 HCM patients and 20 healthy subjects were analyzed by QTVI, and the regional myocardial systolic peak velocities （MVS） were measured. Mean MVS at each level including mitral annular, basal, middle and apical segments were calculated. The ratio of MVS along long-axis to that along short-axis （Ri） at basal and middle segments of the LV posterior wall and ventricular septum were calculated. The results showed that mean MVS was slower at each level including mitral annular, basal, middle and apical segments in the HCM patients than that in the healthy subjects （P〈0.01）. There were no significant differences in mean MVS between obstructive and non-obstructive groups in HCM patients. MVS of all regional myocardial segments along long-axis in the HCM patients were significantly slower than that in the healthy subjects （P〈0.05）, but there was no significant difference in MVS of all regional myocardial segments along long-axis between hypertrophied and non-hypertrophied group in the HCM patients. Ri was significantly lower in the HCM patients than that in the healthy subjects. The LV regional myocardial contractility along long-axis was impaired not only in the hypertrophied wall but also in the non-hypertrophied one in patients with HCM, suggesting that QTVI can assess accurately LV regional systolic function in patient with HCM and provides a novel means for an early diagnosis before and independent of hypertrophy.

Assessment of Regional Myocardial Function in Patients with Hypertrophic Cardiomyopathy by Tissue Strain Imaging

The value of tissue strain imaging （SI） in regional myocardial systolic and diastolic func tion assessment was studied. In 18 patients with nonobstructive hypertrophic cardiomyopathy （HCM） and 20 age-matched healthy subjects, regional myocardial longitudinal peak systolic strain in eject time （represented by εet） was measured at basal, mid and apical segments of septal, lateral and posterior walls of the left ventricle （LV） and compared between groups, εet had no significant difference between segments in control group （P〉0.05）, which displayed a decreasing trend from basal segments to apical ones. εet in the HCM group was significantly decreased （P（0. 05） as compared with that in the healthy group. In the HCM group, εet in the midseptum was significantly less than at the basal and apical septum, and was also less than at the rest LV walls in the same group （P〉0.01）. The systolic reversed εet was noticed in 35% of the hypertrophic segments in HCM group. Significantly negative correlation existed between the absolute value of εet and wall thickness in the midseptum （r= -0.83）. The post-systolic strain（PSS） segment number the and amplitudes in healthy group were significantly less than those in HCM group （P〈0.05）. Both regional myocardial systolic and diastolic functions were impaired in hypertrophic or non-hypertrophic segments in patients with the HCM, especially in hypertrophic segments. Strain imaging technique is a sensitive and accura tool in myocardial dysfunction assessment.

RISK OF PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY UNDERGOING NONCARDIAC SURGERY

Objective To determine the risk of noncardiac surgery in patients with hypertrophic cardiomyopathy.Methods We reviewed the medical records of all patients who were diagnosed as hypertrophic cardiomyopathy at Peking Union Medical College Hospital from January 1998 to August 2006 and identified 24 patients who subsequently underwent noncardiac surgery.Results There were no intraoperative cardiac events.Postoperative cardiac events were identified in 3 patients including 1 death due to acute myocardial infarction and 2 episodes of transient hypotension.Conclusions The risk of anesthesia and noncardiac surgery is low in patients with hypertrophic cardiomyopathy.During the perioperative period,beta-blockers and/or calcium channel blockers should be given;vasodilator and inotropic agents should be avoided due to the side effects on hemodynamics.

Pulmonary vein isolation implemented by second-generation cryoballoon for treating hypertrophic cardiomyopathy patients with symptomatic atrial fibrillation:a case-control study

Background Atrial fibrillation(AF)is a generally acknowledged turning-point of the natural history of hypertrophic cardiomyopathy(HCM);however,data from the cryoballoon ablation(CBA)for AF in HCM patients are relatively scarce.The study aimed to evaluate the efficacy and safety of CBA in HCM patients with AF.Methods We retrospectively analyzed HCM patients among 1253 patients with symptomatic AF who underwent CBA for pulmonary vein isolation in a single center.The study analyzed the AF recurrence and assessed the CBA indexes,including nadir temperature,time-to-isolation,CBA failure,pulmonary vein potentials(PVPs),and redo procedure.Results A total of 108 patients were included(mean age:59.0±6.9 years),27 patients(25%)had HCM,with the median follow-up duration of 25.5 months.The one-year AF-free rates were 79.0%vs.63.0%(non-HCM vs.HCM),while the two-year AF-free rates were 77.8%vs.55.1%[hazard ratio(HR)=2.758,log-rank P=0.024].Patients with persistent AF had poor AF-free rates compared to those with paroxysmal AF(P<0.001).The CBA failure was the most common in the right inferior pulmonary veins,which had the lowest PVPs.Multivariate Cox regression analysis indicated that HCM and persistent AF were risk factors for AF recurrence(HR=2.74,95%CI:1.29–5.79,P=0.008;and HR=3.97,95%CI:1.85–8.54,P<0.001,respectively).Conclusions The CBA can be effectively and safely used to treat HCM patients with symptomatic AF.The freedom from AF for HCM patients after CBA is relatively low compared to that for non-HCM patients.

Delay enhancement patterns in apical hypertrophic cardiomyopathy by phase-sensitive inversion recovery sequence

Objective:Late gadolinium enhancement(LGE) patterns of cardiovascular magnetic resonance (CMR) relying on PSIR(phase-sensitive inversion recovery sequence) techniques had been used to determine the characteristics of LGE in apical hypertrophic cardiomyopathy(ApHCM). Methods:Forty patients pure ApHCM[age,(60.2±10.4) years,31 men]were enrolled.LGE images were acquired using PSIR,and analyzed using a 17-segment model.Summing the LGE areas in all short axis slices yielded the total volume of late enhancement,which was subsequently presented as a proportion of total LV myocardium(%LGE).Results:Mean maximal apical wall thickness was(17.9±2.3) mm,and mean left ventricular(LV) ejection fraction was(67.7±8.0)%.LGE was detected in 130 segments of 30 patients(75.0%),occupying(4.9±5.5)% of LV myocardium.LGE was mainly detected at the junction between left and right ventricles in 12(30%) and at the apex in 28(70%),although LGE-positive areas were widely distributed,and not limited to the apex.Focal LGE at the non-hypertrophic LV segments was found in some ApHCM patients,even without LGE of hypertrophied apical segments.Conclusions:LGE was frequently observed not only in the thickened apex of the heart but also in other LV segments,irrespective of the presence or absence of hypertrophy.The simple presence of LGE on CMR was not representative of adverse prognosis in this population.

Hypertrophic cardiomyopathy and sudden cardiac death

Hypertrophic cardiomyopathy (HCM) is a common genetic cardiovascular disease that affects the left ventricle. HCM can appear at any age, with the majority of the patients remaining clinically stable. When patients complain of symptoms, these include: dyspnea, dizziness, syncope and angina. HCM can lead to sudden cardiac death (SCD), mainly due to ventricular tachyarrhythmia or ventricular tachycardia. High-risk patients benefit from implantable cardioverter-defibrillators. Left ventricular outflow tract obstruction is not a rare feature in HCM, especially in symptomatic patients, and procedures that abolish that obstruction provide positive and consistent results that can improve longterm survival. HCM is the most common cause of sudden death in young competitive athletes and preparticipation screening programs have to be implemented to avoid these tragic fatalities. The structure of these programs is a matter of large debate. Worldwide registries are necessary to identify the full extent of HCMrelated SCD.