Aneurysm or diverticulum? You better look twice-Two rare faces of hypertrophic cardiomyopathy.
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ABSTRACT:
SUBMITTER: Quick S
PROVIDER: S-EPMC11336020 | biostudies-literature | 2024 Feb
REPOSITORIES: biostudies-literature
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Aneurysm or diverticulum? You better look twice-Two rare faces of hypertrophic cardiomyopathy.
Quick Silvio S Ibrahim Karim K Youssef Akram A Payo-Anez Lorena L
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 20240222 9
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Project description:ObjectivesApical aneurysms in patients with hypertrophic cardiomyopathy (HCM) represent an underrecognized but clinically important subset of HCM patients. However it may be frequently missed by echocardiography because of poor image quality of left ventricular apex. We aimed to compare electrocardiographic STE in HCM patients with and without apical aneurysm.MethodsWe developed this clinical review using an extensive MEDLINE review of the literature and data from our laboratories; and some electrocardiographic parameters including STE were analysed in HCM patients with and without apical aneurysm.ResultsThere were 29 HCM patients without apical aneurysm (Group 1; 52.6±17.7years, 69% male) and 28 HCM patients with apical aneurysm (Group 2; 59.6±13.2years, 57% male). The STE in V4-6 derivations were statistically more frequent in patients with apical aneurysm compared to those without aneurysm (93% vs 7%, p<0.001). There was a positive correlation between the presence of the STE in V4-6 derivations and the presence of the apical aneurysm (Spearman's ρ=0.895, p<0.001).ConclusionsClinicians and specifically echocardiographers must pay special attention on the electrocardiography to correctly detect the frequently overlooked apical aneurysm in HCM patients, and should be careful for apical aneurysm particularly in the presence of STE in V4-6 derivations.
| S-EPMC4593796 | biostudies-literature
Project description:A 4-year-old boy was diagnosed with hypertrophic cardiomyopathy with moderate degree of obstruction of the left ventricular outflow tract, secondary to asymmetric septal hypertrophy during infancy. Echocardiogram on follow-up showed increase in left ventricular outflow tract obstruction and appearance of an aneurysm in the membranous portion of interventricular septum. The appearance of the membranous septal aneurysm may be related to the direction of jet arising from the point of contact of the anterior mitral leaflet with the hypertrophied basal septum and hitting this part of the interventricular septum.Supplementary informationThe online version contains supplementary material available at 10.1007/s12055-021-01287-x.
| S-EPMC9218020 | biostudies-literature
Project description: Not available
| S-EPMC7319806 | biostudies-literature
Project description:BackgroundCoronary arterial fistulae are rare yet have been associated with hypertrophic cardiomyopathy (HCM). We present a patient who was found to have a left circumflex (LCx) to left ventricular (LV) fistula in combination with apical HCM.Case summaryA 72-year-old female presented with syncope after exercise. She sustained facial injuries including fracture of her nasal bones. There were no previous episodes, no cardiac history, and she denied chest pain or anginal symptoms. Electrocardiogram showed sinus rhythm with T-wave inversion throughout the chest leads. Echocardiography suggested apical HCM with hypertrophy of the LV apex but good systolic function. This was confirmed on cardiac magnetic resonance imaging with a characteristically spade-shaped LV cavity. Coronary angiography demonstrated a distal LCx to LV fistula from the apical hypertrophy but no coronary artery disease. She was started on beta-blockers and has had no further episodes, remaining well.DiscussionCoronary fistulae are present in 0.002% of the population but clinical outcomes are poorly understood. The majority are asymptomatic but anginal chest pains can occur through the 'coronary steal' phenomenon. Apical HCM is a subtype of HCM characterized by spade-shaped LV cavity obliteration. It is unclear whether the association between fistulae and HCM occur because of the increased vascularization and fibrosis associated with HCM or whether congenital malformation leads to hypertrophy. Both can produce a constellation of cardiac symptoms. Our patient has the previously unreported combination of apical HCM and an LCx fistula; two rarer subtypes of rare conditions appearing together.
| S-EPMC7954264 | biostudies-literature
Project description: Not available
| S-EPMC11524951 | biostudies-literature
Project description:Apical akinesis and dilation in the absence of obstructive coronary artery disease is a typical feature of stress-induced (takotsubo) cardiomyopathy, whereas apical hypertrophy is seen in apical-variant hypertrophic cardiomyopathy. We report the cases of 2 patients who presented with takotsubo cardiomyopathy and were subsequently found to have apical-variant hypertrophic cardiomyopathy, after the apical ballooning from the takotsubo cardiomyopathy had resolved. The first patient, a 43-year-old woman with a history of alcohol abuse, presented with shortness of breath, electrocardiographic and echocardiographic features consistent with takotsubo cardiomyopathy, and no significant coronary artery disease. An echocardiogram 2 weeks later revealed a normal left ventricular ejection fraction and newly apparent apical hypertrophy. The 2nd patient, a 70-year-old woman with pancreatitis, presented with chest pain, apical akinesis, and a left ventricular ejection fraction of 0.39, consistent with takotsubo cardiomyopathy. One month later, her left ventricular ejection fraction was normal; however, hypertrophy of the left ventricular apex was newly noted. To our knowledge, these are the first reported cases in which apical-variant hypertrophic cardiomyopathy was masked by apical ballooning from stress-induced cardiomyopathy.
| S-EPMC4004496 | biostudies-other
Project description:BackgroundHypertrophic cardiomyopathy (HCM) is an extremely heterogeneous disease. An under recognized and very often missed subgroup within this broad spectrum concerns patients with left ventricular (LV) apical aneurysms in the absence of coronary artery disease.Case presentationWe describe a case of HCM with midventricular obstruction and apical aneurysm formation in 3 patients coming from a single family. This HCM pattern was detected by 2D-echocardiography and confirmed by cardiac magnetic resonance imaging. A cardioverter defibrillator was implanted in one of the patients because of non-sustained ventricular tachycardia detected in 24-h Holter monitoring and an abrupt drop in systolic blood pressure during maximal exercise test. The defibrillator activated 8 months after implantation by suppression of a ventricular tachycardia providing anti-tachycardia pacing. The patient died due to refractory heart failure 2 years after initial evaluation. The rest of the patients are stable after a 2.5-y follow-up period.ConclusionThe detection of apical aneurysm by echocardiography in HCM patients may be complicated. Ventricular tachycardia arising from the scarred aneurysm wall may often occur predisposing to sudden death.
| S-EPMC2706214 | biostudies-literature
Project description:Hypertrophic cardiomyopathy (HCM) is a heritable cardiomyopathy that is predominantly caused by pathogenic mutations in sarcomeric proteins. Here we report two individuals, a mother and her daughter, both heterozygous carriers of the same HCM-causing mutation in cardiac Troponin T (TNNT2). Despite sharing an identical pathogenic variant, the two individuals had very different manifestations of the disease. While one patient presented with sudden cardiac death, recurrent tachyarrhythmia, and findings of massive left ventricular hypertrophy, the other patient manifested with extensive abnormal myocardial delayed enhancement despite normal ventricular wall thickness and has remained relatively asymptomatic. Recognition of the marked incomplete penetrance and variable expressivity possible in a single TNNT2-positive family has potential to guide HCM patient care.
| S-EPMC10174446 | biostudies-literature
Project description: Not available
| S-EPMC7316564 | biostudies-literature
Project description:BackgroundHypertrophic cardiomyopathy (HCM) is caused by rare variants in sarcomere-encoding genes, but little is known about the clinical significance of these variants in the general population.ObjectivesThe goal of this study was to compare lifetime outcomes and cardiovascular phenotypes according to the presence of rare variants in sarcomere-encoding genes among middle-aged adults.MethodsThis study analyzed whole exome sequencing and cardiac magnetic resonance imaging in UK Biobank participants stratified according to sarcomere-encoding variant status.ResultsThe prevalence of rare variants (allele frequency <0.00004) in HCM-associated sarcomere-encoding genes in 200,584 participants was 2.9% (n = 5,712; 1 in 35), and the prevalence of variants pathogenic or likely pathogenic for HCM (SARC-HCM-P/LP) was 0.25% (n = 493; 1 in 407). SARC-HCM-P/LP variants were associated with an increased risk of death or major adverse cardiac events compared with controls (hazard ratio: 1.69; 95% confidence interval [CI]: 1.38-2.07; P < 0.001), mainly due to heart failure endpoints (hazard ratio: 4.23; 95% CI: 3.07-5.83; P < 0.001). In 21,322 participants with both cardiac magnetic resonance imaging and whole exome sequencing, SARC-HCM-P/LP variants were associated with an asymmetric increase in left ventricular maximum wall thickness (10.9 ± 2.7 mm vs 9.4 ± 1.6 mm; P < 0.001), but hypertrophy (≥13 mm) was only present in 18.4% (n = 9 of 49; 95% CI: 9%-32%). SARC-HCM-P/LP variants were still associated with heart failure after adjustment for wall thickness (hazard ratio: 6.74; 95% CI: 2.43-18.7; P < 0.001).ConclusionsIn this population of middle-aged adults, SARC-HCM-P/LP variants have low aggregate penetrance for overt HCM but are associated with an increased risk of adverse cardiovascular outcomes and an attenuated cardiomyopathic phenotype. Although absolute event rates are low, identification of these variants may enhance risk stratification beyond familial disease.
| S-EPMC8434420 | biostudies-literature