The effects of pregnancy in subjects with repaired tetralogy of Fallot.

BACKGROUND: Previous reports reveal inconsistent findings of right ventricular (RV) changes following pregnancy in subjects with repaired tetralogy of Fallot (rTOF). METHODS: A two-center, retrospective cohort study which included women with rTOF who completed pregnancy that were matched to nulliparous women with rTOF by age at the time of baseline cardiac magnetic resonance (CMR), RV ejection fraction (RVEF), and indexed RV end-diastolic volume (RVEDVi). Pre-pregnancy and postpartum cardiac magnetic resonance (CMR) were analyzed and compared to sequential CMR of nulliparous subjects with rTOF. RESULTS: Thirty-six women with rTOF who completed pregnancy were matched to 72 nulliparous women with rTOF. Over a mean period of 3.1 years for the pregnancy group and 2.7 years for the comparison group, there was no significant change in the RVEDVi, RVEF, RV mass, pulmonary regurgitation severity, left ventricular (LV) volumes, LV ejection fraction (LVEF), or LV mass when comparing the baseline CMR and the follow-up CMR in either of the groups. There was a slight increase in RV indexed end-systolic volume (RVESVi) when comparing the baseline CMR and the follow-up CMR in the pregnancy group (68.93, SD 23.34 ml/m2 at baseline vs. 72.97, SD 25.24 mL/m2 at follow-up, P = .028). Using a mixed effects model for CMR parameters change over time; when adjusted for time between baseline and follow-up CMR there was no significant difference in rate of change between the pregnancy and comparison groups. CONCLUSIONS: Most ventricular remodeling parameters measured by CMR did not significantly change in subjects with rTOF who completed pregnancy or in nulliparous subjects with rTOF. In the pregnancy group, RVESVi is larger in those individuals who have undergone pregnancy without a significant change in ventricular function. These patients should be followed longitudinally to determine the long-term ventricular and clinical effects of pregnancy.

Prognostic value of quantitative contrast-enhanced cardiovascular magnetic resonance for the evaluation of sudden death risk in patients with hypertrophic cardiomyopathy.

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is the most common cause of sudden death in the young, although not all patients eligible for sudden death prevention with an implantable cardioverter-defibrillator are identified. Contrast-enhanced cardiovascular magnetic resonance with late gadolinium enhancement (LGE) has emerged as an in vivo marker of myocardial fibrosis, although its role in stratifying sudden death risk in subgroups of HCM patients remains incompletely understood. METHODS AND RESULTS: We assessed the relation between LGE and cardiovascular outcomes in 1293 HCM patients referred for cardiovascular magnetic resonance and followed up for a median of 3.3 years. Sudden cardiac death (SCD) events (including appropriate defibrillator interventions) occurred in 37 patients (3%). A continuous relationship was evident between LGE by percent left ventricular mass and SCD event risk in HCM patients (P=0.001). Extent of LGE was associated with an increased risk of SCD events (adjusted hazard ratio, 1.46/10% increase in LGE; P=0.002), even after adjustment for other relevant disease variables. LGE of ≥15% of LV mass demonstrated a 2-fold increase in SCD event risk in those patients otherwise considered to be at lower risk, with an estimated likelihood for SCD events of 6% at 5 years. Performance of the SCD event risk model was enhanced by LGE (net reclassification index, 12.9%; 95% confidence interval, 0.3-38.3). Absence of LGE was associated with lower risk for SCD events (adjusted hazard ratio, 0.39; P=0.02). Extent of LGE also predicted the development of end-stage HCM with systolic dysfunction (adjusted hazard ratio, 1.80/10% increase in LGE; P<0.03). CONCLUSIONS: Extensive LGE measured by quantitative contrast enhanced CMR provides additional information for assessing SCD event risk among HCM patients, particularly patients otherwise judged to be at low risk.

Rationale and design of an International Multicenter Registry of patients with repaired tetralogy of Fallot to define risk factors for late adverse outcomes: the INDICATOR cohort.

Although early survival after tetralogy of Fallot (TOF) repair in the modern era is excellent, studies on late outcomes have shown increasing rates of mortality and morbidity. Despite multiple publications on factors associated with late complications, risk factors for major outcomes (death and sustained ventricular tachycardia [VT]) remain poorly defined. Consequently, the International Multicenter TOF Registry (INDICATOR) was established. This article describes the development, structure, and goals of this registry and characterizes the initial cohort derived from four large congenital heart centers in the United States, Canada, and Europe. A data coordinating center with a core cardiac magnetic resonance (CMR) laboratory and statistical core was established. Subjects with repaired TOF who had CMR imaging performed between 1997 and 2010 and ≥ 1 year follow-up were included. Clinical end points were death and sustained VT. Demographic, electrophysiologic, exercise, and outcome data were collected. A total of 873 subjects fulfilled inclusion criteria (median age at repair 2.9 years and at CMR imaging 22.8 years). Of these, 9 % had QRS duration >180 ms on electrocardiogram (ECG). On CMR imaging, 38 % had severe right-ventricular (RV) dilatation (≥ 160 mL/m(2)), and 6 % had severe RV dysfunction (ejection fraction < 35 %). Of the 551 subjects with exercise testing available, 28 % had severely decreased exercise capacity with <50 % predicted peak oxygen consumption. The INDICATOR cohort allows robust statistical analysis to evaluate major clinical outcomes in patients with repaired TOF. Continued follow-up and further expansion of the registry may provide new insights into innovative therapeutic strategies to improve late outcomes.

Long Term Follow-Up of Patients with Systemic Right Ventricle and Biventricular Physiology: A Single Centre Experience.

BACKGROUND: A progressively increasing prevalence of congenital heart disease (CHD) in adulthood has been noticed in recent decades; CHD cases with a systemic right ventricle have a poorer outcome. METHODS: Seventy-three patients with SRV evaluated in an outpatient clinic between 2014 and 2020 were enrolled in this study. Thirty-four patients had a transposition of the great arteries treated with an atrial switch operation; 39 patients had a congenitally corrected transposition of the great arteries (ccTGA). RESULTS: Mean age at the first evaluation was 29.6 ± 14.2 years; 48% of the patients were female. The NYHA class at the visit was III or IV in 14% of the cases. Thirteen patients had at least one previous pregnancy. In 25% of the cases, complications occurred during pregnancy. Survival free from adverse events was 98.6% at one year and 90% at 6-year follow-up without any difference between the two groups. Two patients died and one received heart transplantation during follow-up. The most common adverse event during follow-up was the presence of arrhythmia requiring hospitalization (27.1%), followed by heart failure (12.3%). The presence of LGE together with lower exercise capacity, higher NYHA class and more dilated and/or hypokinetic RV predicted a poorer outcome. Quality of life was similar to the QoL of the Italian population. CONCLUSIONS: Long-term follow-up of patients with a systemic right ventricle is characterized by a high incidence of clinical events, prevalently arrhythmias and heart failure, which cause most of the unscheduled hospitalizations.

SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern.

AIMS: Brugada syndrome (BrS) is an inherited arrhythmic disease characterized by a coved ST-segment elevation in the right precordial electrocardiogram leads (type 1 ECG pattern) and is associated with a risk of malignant ventricular arrhythmias and sudden cardiac death. In order to assess the predictive value of the Shanghai Score System for the presence of a SCN5A mutation in clinical practice, we studied a cohort of 125 patients with spontaneous or fever/drug-induced BrS type 1 ECG pattern, variably associated with symptoms and a positive family history. METHODS: The Shanghai Score System items were collected for each patient and PR and QRS complex intervals were measured. Patients were genotyped through a next-generation sequencing (NGS) custom panel for the presence of SCN5A mutations and the common SCN5A polymorphism (H558R). RESULTS: The total Shanghai Score was higher in SCN5A+ patients than in SCN5A- patients. The 81% of SCN5A+ patients and the 100% of patients with a SCN5A truncating variant exhibit a spontaneous type 1 ECG pattern. A significant increase in PR (P = 0.006) and QRS (P = 0.02) was detected in the SCN5A+ group. The presence of the common H558R polymorphism did not significantly correlate with any of the items of the Shanghai Score, nor with the total score of the system. CONCLUSION: Data from our study suggest the usefulness of Shanghai Score collection in clinical practice in order to maximize genetic test appropriateness. Our data further highlight SCN5A mutations as a cause of conduction impairment in BrS patients.

Impact of hard lockdown on interventional cardiology procedures in congenital heart disease: a survey on behalf of the Italian Society of Congenital Heart Disease.

The Coronavirus disease 2019 (COVID-19) pandemic has thoroughly and deeply affected the provision of healthcare services worldwide. In order to limit the in-hospital infections and to redistribute the healthcare professionals, cardiac percutaneous intervention in Pediatric and Adult Congenital Heart Disease (ACHD) patients were limited to urgent or emergency ones. The aim of this article is to describe the impact of the COVID-19 pandemic on Pediatric and ACHD cath laboratory activity during the so-called 'hard lockdown' in Italy. Eleven out of 12 Italian institutions with a dedicated Invasive Cardiology Unit in Congenital Heart Disease actively participated in the survey. The interventional cardiology activity was reduced by more than 50% in 6 out of 11 centers. Adolescent and ACHD patients suffered the highest rate of reduction. There was an evident discrepancy in the management of the hard lockdown, irrespective of the number of COVID-19 positive cases registered, with a higher reduction in Southern Italy compared with the most affected regions (Lombardy, Piedmont, Veneto and Emilia Romagna). Although the pandemic was brilliantly addressed in most cases, we recognize the necessity for planning new, and hopefully homogeneous, strategies in order to be prepared for an upcoming new outbreak.

Aortopulmonary Collateral Artery from the Proximal Ascending Aorta: A Rare Anatomical Finding.

Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries is a rare congenital heart lesion in which pulmonary blood supply may arise from different segments of the aorta. We report an unusual case of a newborn with a major collateral artery originating from the proximal ascending aorta. Successful reparative surgery was undertaken.

Cardiac magnetic resonance markers of progressive RV dilation and dysfunction after tetralogy of Fallot repair.

OBJECTIVE: Patients with repaired tetralogy of Fallot (TOF) are followed serially by cardiac magnetic resonance (CMR) for surveillance of RV dilation and dysfunction. We sought to define the prevalence of progressive RV disease and the optimal time interval between CMR evaluations. METHODS: Candidates were selected from a multicentre TOF registry and were included if ≥2 CMR studies performed ≥6 months apart were available without interval cardiovascular interventions. Patients with 'disease progression' (defined as increase in RV end-diastolic volume index (RVEDVi) ≥30 mL/m(2), decrease in RVEF ≥10% or decrease in LVEF ≥10%) were compared with those with 'disease non-progression' (defined as RVEDVi increase ≤5 mL/m(2), RVEF decrease ≤3% and LVEF decrease ≤3%). RESULTS: A total of 849 CMR studies in 339 patients (median age at first CMR 23.6 years) were analysed. Over a median interval of 2.2 years between CMR pairs, RVEDVi increased 4±18 mL/m(2) (p<0.001), RV end-systolic volume index increased 3±13 mL/m(2) (p<0.001), RVEF decreased 1%±6% (p=0.02) and LVEF decreased 1%±6% (p=0.001). Disease progression was observed in 15% (n=76) and non-progression in 26% (n=133). There were no significant differences between those with and without progression in baseline demographic, anatomic, ECG, exercise or baseline CMR characteristics. The optimal time interval between CMR studies for detection of progression was a 3-year interval (63% sensitivity, 65% specificity, area under the receiver operating characteristic curve 0.65). CONCLUSIONS: Although progressive RV dilation and decline in biventricular systolic function occur at a slow pace in the majority of adults with repaired TOF, 15% of patients experience rapid disease progression. The results of this study support the practice of serial CMR examinations to identify progressive disease at a time interval of up to 3 years.

Cofilin-2 phosphorylation and sequestration in myocardial aggregates: novel pathogenetic mechanisms for idiopathic dilated cardiomyopathy.

BACKGROUND: Recently, tangles and plaque-like aggregates have been identified in certain cases of dilated cardiomyopathy (DCM), traditionally labeled idiopathic (iDCM), where there is no specific diagnostic test or targeted therapy. This suggests a potential underlying cause for some of the iDCM cases. [Corrected] OBJECTIVES: This study sought to identify the make-up of myocardial aggregates to understand the molecular mechanisms of these cases of DCM; this strategy has been central to understanding Alzheimer's disease. METHODS: Aggregates were extracted from human iDCM samples with high congophilic reactivity (an indication of plaque presence), and the findings were validated in a larger cohort of samples. We tested the expression, distribution, and activity of cofilin in human tissue and generated a cardiac-specific knockout mouse model to investigate the functional impact of the human findings. We also modeled cofilin inactivity in vitro by using pharmacological and genetic gain- and loss-of-function approaches. RESULTS: Aggregates in human myocardium were enriched for cofilin-2, an actin-depolymerizing protein known to participate in neurodegenerative diseases and nemaline myopathy. Cofilin-2 was predominantly phosphorylated, rendering it inactive. Cardiac-specific haploinsufficiency of cofilin-2 in mice recapitulated the human disease's morphological, functional, and structural phenotype. Pharmacological stimulation of cofilin-2 phosphorylation and genetic overexpression of the phosphomimetic protein promoted the accumulation of "stress-like" fibers and severely impaired cardiomyocyte contractility. CONCLUSIONS: Our study provides the first biochemical characterization of prefibrillar myocardial aggregates in humans and the first report to link cofilin-2 to cardiomyopathy. The findings suggest a common pathogenetic mechanism connecting certain iDCMs and other chronic degenerative diseases, laying the groundwork for new therapeutic strategies.

Durability of large diameter right ventricular outflow tract conduits in adults with congenital heart disease.

BACKGROUND: Subpulmonary ventricular outflow conduits are utilized routinely to repair complex congenital cardiac abnormalities, but are limited by the inevitable degeneration and need for reintervention. Data on conduit durability and propensity to dysfunction in the adult population are limited. METHODS: The study included 288 consecutive patients ≥18 years of age who were evaluated between 1991 and 2010 after placement of a ≥18 mm conduit. Freedom from hemodynamic conduit dysfunction served as our primary outcome. Freedom from reintervention, overall mortality and heart transplantation were also evaluated. RESULTS: Median age at conduit implant was 19 years and median follow-up duration was 13 years. Probabilities of survival without conduit dysfunction and reintervention at 5, 10 and 15 years were 87%, 63%, and 49%, and 95%, 81%, and 56%, respectively. Smaller conduit diameter (18-20mm) was associated with lower probability of survival without dysfunction in the entire study cohort, with prominent effects in patients in both the lowest and the highest age quartiles. Other parameters with similar associations were higher BMI, native anatomy of tetralogy of Fallot or truncus arteriosus, and active smoking. CONCLUSIONS: Adult congenital heart disease patients with conduit diameter ≥18 mm had an approximately 50% chance of developing hemodynamic conduit dysfunction and undergoing conduit reintervention by 15 years of post-implant, and a 30% likelihood of undergoing conduit reoperation in the same time frame. The importance of these data is underscored by the increasing number of adults with congenital heart diseases seeking care and the recent advances in transcatheter valve replacement for dysfunctional conduits.

Contemporary predictors of death and sustained ventricular tachycardia in patients with repaired tetralogy of Fallot enrolled in the INDICATOR cohort.

OBJECTIVE: Patients with repaired tetralogy of Fallot (TOF) experience increased rates of mortality and morbidity in adulthood. This study was designed to identify risk factors for death and ventricular tachycardia (VT) in a large contemporary cohort of patients with repaired TOF. METHODS: Subjects with repaired TOF from four large congenital heart centres in the USA, Canada and Europe were enrolled. Clinical, ECG, exercise, cardiac magnetic resonance (CMR) and outcome data were analysed. RESULTS: Of the 873 patients (median age 24.4 years), 32 (3.7%) reached the primary outcome (28 deaths, 4 sustained VT; median age at outcome 38 years; median time from CMR to outcome 1.9 years). Cox proportional-hazards regression identified RV mass-to-volume ratio ≥ 0.3 g/mL (HR, 5.04; 95% CI 2.3 to 11.0; p<0.001), LV EF z score<-2.0 (HR, 3.34; 95% CI 1.59 to 7.01; p=0.001), and history of atrial tachyarrhythmia (HR, 3.65; 95% CI 1.75 to 7.62; p=0.001) as outcome predictors. RV dysfunction was predictive of the outcome similar to LV dysfunction. In subgroup analysis of 315 subjects with echocardiographic assessment of RV systolic pressure, higher pressure (HR 1.39; 95% CI 1.19 to 1.62; p<0.001) was associated with death and sustained VT independent of RV hypertrophy and LV dysfunction. CONCLUSIONS: RV hypertrophy, ventricular dysfunction and atrial tachyarrhythmias are predictive of death and sustained VT in adults with repaired TOF. These findings may inform risk stratification and the design of future therapeutic trials.

Risk of sudden death and outcome in patients with hypertrophic cardiomyopathy with benign presentation and without risk factors.

Patients with hypertrophic cardiomyopathy (HC) are reported to have a mortality rate of about 1.0% per year, and those patients without sudden death risk factors and with no or mild symptoms are generally considered to have a benign clinical presentation. However, the risk of sudden death and the outcome in this latter subgroup have not been investigated systematically and remain unresolved. We assessed the risk of sudden death and outcome in 653 consecutive patients with HC without risk factors and with no or mild symptoms. Over a median follow-up of 5.3 years, 35 patients (5.4%) died of HC-related causes. Mean age at death was 46 ± 20 years in patients who died suddenly and 66 ± 15 and 72 ± 9 years, respectively, in patients who died of heart failure or stroke. Event rate was 0.6% per year for sudden death, 0.2% per year for heart failure death, and 0.1% per year for stroke-related death. Sudden death risk was independently and inversely related to age, and risk of heart failure or stroke death was directly related to age (p = 0.020). At 10 years after the initial evaluation, sudden death risk was 5.9%, with sudden death rate being the lowest (0.3% per year) in patients with normal left atrial dimension (≤40 mm). In conclusion, in patients with HC without conventional risk factors and with no or mild symptoms, the risk of sudden death was not negligible, with an event rate of 0.6% per year. Heart failure and stroke-related death were less common and largely confined to older patients. These results underscore the need for a more accurate assessment of the sudden death risk in patients with HC.

Single ventricle anatomy is associated with increased frequency of nonalcoholic cirrhosis.

BACKGROUND: Single ventricle (SV) patients with Fontan physiology have multiple risk factors for liver disease but the prevalence of liver disease remains unknown in this population. We sought to determine whether hospitalized patients with a SV diagnosis have higher rates of nonalcoholic cirrhosis than patients without congenital heart disease. METHODS: We used the 1998-2009 Healthcare Cost and Utilization Project's Nationwide Inpatient Sample, a nationally representative dataset, to identify patients 18-49 years old admitted to an acute care hospital. We compared the rate of nonalcoholic cirrhosis between those with a SV diagnosis and patients without congenital heart disease. RESULTS: There were 7968 hospitalizations of patients with a SV diagnosis and 13,602,149 hospitalizations of patients without congenital heart disease. SV patients were more likely to have nonalcoholic cirrhosis than those without congenital heart disease (4.3 ± 0.7 vs. 0.3 ± 0.01%, univariate OR 15.2, 95%CI 10.9-21.3), even after adjusting for viral or chronic hepatitis and other cirrhosis risk factors (multivariable OR 21.6, 95%CI 4.3-32.5). The proportion of all hospitalizations among SV patients for nonalcoholic cirrhosis increased by 173% between 1998/9 and 2008/9, from 2.3% to 6.2% (p=0.009). Among those with nonalcoholic cirrhosis, SV patients were more likely to have congestive hepatopathy (6.6 ± 3.1 vs. 0.1 ± 0.0001%, OR 63.2, 95%CI 19.2-207.8), longer hospital stays and higher hospital charges. CONCLUSIONS: A single ventricle diagnosis is associated with markedly higher risk for nonalcoholic cirrhosis in a population-based sample of hospitalized patients. The proportion of patients with single ventricle anatomy admitted for nonalcoholic cirrhosis or its complications is increasing rapidly.

Transcatheter closure of post-myocardial infarction ventricular septal rupture.

BACKGROUND: Ventricular septal rupture (VSR) after acute myocardial infarction (AMI) is a potentially lethal mechanical complication of acute coronary syndromes. Given high surgical mortality, transcatheter closure has emerged as a potential strategy in selected cases. We report our single-center experience with double-umbrella device percutaneous closure of post-AMI VSR. METHODS AND RESULTS: In this single-center, retrospective, cohort study, patients who underwent transcatheter closure of post-AMI VSR between 1988 and 2008 at Boston Children's Hospital were included. Data were analysed according to whether the patients underwent direct percutaneous VSR closure or closure of a residual VSR after a previous surgical approach. Primary outcome was mortality rate at 30 days. Clinical predictors of primary outcome were investigated using univariate logistic regression. Thirty patients were included in the study (mean age, 67±8 years). A total of 40 closure devices were implanted. Major periprocedural complications occurred in 4 (13%) patients. Cardiogenic shock, increasing pulmonary/systemic flow ratio, and the use of the new generation (6-arm) STARFlex device all were associated with higher risk of mortality. The Model for End-Stage Liver Disease Excluding international normalized ratio (MELD-XI) score at the time of VSR closure seemed to be most strongly associated with death (odds ratio, 1.6; confidence interval, 1.1-2.2; P<0.001). CONCLUSIONS: Transcatheter closure of post-AMI VSR using CardioSEAL or STARFlex devices is feasible and effective. The MELD-XI score, a marker of multiorgan dysfunction, is a promising risk stratifier in this population of patients. Early closure of post-AMI VSR is advisable before establishment of multiorgan failure.

MELD-XI score and cardiac mortality or transplantation in patients after Fontan surgery.

OBJECTIVE: The Fontan operation is a staged palliation for complex congenital heart disease and single ventricle physiology. Perioperative survivors of the Fontan operation experience long-term cardiac complications, including death. Liver and renal dysfunction are reported in these patients and have a direct effect on morbidity and mortality. This study aims to investigate whether the Model for End-stage Liver Disease eXcluding INR score (function of creatinine and total bilirubin, MELD-XI) predicts risk for cardiac mortality or transplantation in patients with Fontan circulation. DESIGN AND SETTING: Retrospective, single-centre study. Time of first evaluation was the time of the earliest available MELD-XI score measurement, and follow-up was terminated by a cardiac event or by the last clinical evaluation. PATIENTS: Patients surviving after Fontan surgery and evaluated at Boston Children's Hospital between 1993 and 2008. MAIN OUTCOME MEASURE: Composite endpoint of sudden death, death from congestive heart failure or cardiac transplantation. RESULTS: The MELD-XI score was calculated as MELD-XI=11.76(loge creatinine)+5.112(loge total bilirubin)+9.44. Ninety-six patients were included (52 male, median age 26 years). After a mean follow-up period of 5.7 years, 18 patients (19%) experienced the composite end point. Baseline MELD-XI score was independently and directly related to the incidence of the composite endpoint (HR for high MELD-XI score group of 7.76, 95% CI 2.05 to 29.33, p=0.008). CONCLUSIONS: Fontan patients with a higher MELD-XI score have shorter freedom from sudden cardiac death, death from congestive heart failure and cardiac transplantation.

Congenital accessory mitral valve tissue anomaly in a patient with genetically confirmed hypertrophic cardiomyopathy.

Accessory mitral valve tissue is a rare congenital cardiac anomaly that was initially described in children in association with other cardiac congenital abnormalities and, more recently, has also been reported in adults. The authors report a patient with genetically confirmed hypertrophic cardiomyopathy who also had a highly mobile, free-floating membrane-like structure in contiguity with the ventricular side of the anterior mitral valve leaflet, a feature consistent with the diagnosis of accessory mitral valve tissue.

Severe left ventricular wall thinning and extensive fibrosis without evolution to end stage disease in a patient with hypertrophic cardiomyopathy.

The authors report the case of a patient with hypertrophic cardiomyopathy who developed progressive and severe left ventricular wall thinning, as assessed by two-dimensional echocardiography, despite a preserved supranormal ejection fraction and an absence of cardiac symptoms. Extensive fibrosis was identified on cardiovascular magnetic resonance.

Hypertrophic cardiomyopathy in a patient with Down's syndrome.

In persons with Down's syndrome (DS), congenital cardiac defects are frequent, including atrioventricular canal defect, ventricular septal defects and atrial septal defects. However, in patients with this syndrome, hypertrophic cardiomyopathy is very rare because only five cases have been previously reported in the literature. We have identified one male 52-year-old with DS and non-obstructive cardiomyopathy. The echocardiogram of this patient showed a prevalent apical involvement of the left ventricular hypertrophy as previously reported in two adult patients with DS and hypertrophic cardiomyopathy. Although rare, hypertrophic cardiomyopathy can occur in individuals with DS and, in adult patients, the apical form is frequent.