Hypertrophic cardiomyopathy.
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Cardiomyopathies↗
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A novel missense mutation in tropomyosin 1 gene associated with hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder that can lead to heart failure or sudden death. Family-based identification of rare sarcomeric variants can support molecular diagnosis and cascade screening in inherited HCM. This study aimed to identify and evaluate a novel TPM1 variant found in a Vietnamese family with HCM. The proband, a 3-year-old boy diagnosed with HCM, and eight relatives from three generations underwent clinical and genetic evaluation. A candidate variant initially identified by targeted next-generation sequencing was validated by PCR and Sanger sequencing. Familial segregation analysis was performed, and variant pathogenicity was assessed according to ACMG guidelines with support from in silico prediction and structural modeling. Sanger sequencing confirmed a heterozygous missense variant in exon 6 of TPM1 NM_001018005.2:c.576G > C, p.(Glu192Asp), in the proband, his father, and paternal grandfather, all of whom exhibited clinical signs of HCM. The variant was absent in unaffected relatives and in public population databases. Based on ACMG criteria (PM1, PM2, PM5, and PP3), the variant was classified as likely pathogenic. This novel TPM1 variant segregated with HCM in a Vietnamese family, expands the known mutational spectrum of TPM1 in hypertrophic cardiomyopathy, and warrants further functional investigation and familial genetic evaluation.
American College of Medical Genetics and Genomics ↗
Hypercontractile cardiac states simulating hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy (HCM) or idiopathic hypertrophic subaortic stenosis (IHSS) has been defined as an autosomal dominant myocardial disease characterized by specific physical findings, echocardiographic features, asymmetric septal hypertrophy and disordered myocardial architecture. Echocardiographic and scintiphotographic studies failed to reveal evidence of asymmetric septal hypertrophy in four patients with systolic anterior movement of the mitral valve and the typical ausculatory and peripheral pulse abnormalities characteristic of HCM. Postmortem examimination in one patient demonstrated mild concentric left ventricular hypertrophy and a normal arrangement of myocardial muscle fibers. These observations in four patients demonstrate that both systolic anterior movement of the mitral valve and the physical findings characteristic of HCM are not specific for the autosomal dominant myocardial disease characterized by asymmetric septal hypertrophy and abnormal septal histology.
Adult↗
[CCM, HCM (congestive cardiomyopathy and hypertrophic cardiomyopathy)].
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Cardiomyopathies↗
Hypertrophic cardiomyopathy and human leukocyte antigen linkage: differentiation of two forms of hypertrophic cardiomyopathy.
To determine whether hypertrophic cardiomyopathy is associated with a human leukocyte antigen (HLA) phenotype, we tissue-typed 70 unrelated afflicted patients and 86 of their asymptomatic family members (from nine separate kindreds). Forty-five per cent of the white patients had B-12 antigen as compared to 23 per cent in matched control subjects; 69 per cent of black patients had a B-5-complex antigen as compared to 33 per cent in matched controls. Patients with a B-12 or B-5-complex antigen were nonhypertensive and had family members with the disease. Patients without these antigens were severely hypertensive and had no affected family members. Linkage analysis of six families revealed a lod score of 7.7 for asymmetric septal hypertrophy and the HLA region of chromosome 6. We conclude that there is a heritable, nonhypertensive form of hypertrophic cardiomyopathy linked to the HLA loci on chromosome 6 and that a sporadic form is associated with severe, systemic hypertension.
Adult↗
Prevalence of arrhythmias during 24-hour electrocardiographic monitoring and exercise testing in patients with obstructive and nonobstructive hypertrophic cardiomyopathy.
Many patients with hypertrophic cardiomyopathy die suddenly and unexpectedly, a significant number perhaps due to arrhythmia. Of 100 patients initially evaluated for signs or symptoms suggestive of heart disease or a family history of hypertrophic cardiomyopathy, 51 were selected solely because they met the echocardiographic criteria for the disease, and 49 patients were selected primarily because they had: 1) normal sinus rhythm despite left atrial enlargement, 2) a history of syncope, 3) a family history of premature death, or 4) a history of paroxysmal atrial fibrillation. All 100 patients were studied by 24-hour ambulatory electrocardiographic monitoring and 74 of them also underwent treadmill exercise testing. More than 50% of patients in repetitive ventricular premature depolarizations, including 19% who had ventricular tachycardia. Monitoring was superior to exercise testing for exposing these arrhythmias. Two patients experienced cardiac arrest within 2 months of monitoring; in each, monitoring had revealed ventricular tachycardia. Two patients with paroxysms of supraventricular tachycardia during monitoring developed fixed atrial fibrillation within 1 year. These preliminary observations suggest that monitoring may help identify patients at increased risk for significant arrhythmic events.
Adolescent↗
The clinical profile of hypertrophic cardiomyopathy.
Seven cases of hypertrophic cardiomyopathy, presenting in a cardiological practice over a period of three years, are documented to illustrate the clinical spectrum of this disease. Frequently this disorder presents with symptoms resembling those of ischaemic heart disease accompanied by left ventricular hypertrophy without obvious cause. It is often familial. The clinical course is variable, but in general slowly progressive; the prognosis depends largely on the severity of disease when the patient presents for treatment. Although no fully satisfactory treatment is available, beta-blockade often ameliorates symptoms, and surgery may benefit selected patients with advanced disease.
Adolescent↗
Echocardiographic spectrum of hypertrophic cardiomyopathy.
Echocardiographic patterns in 15 patients with hypertrophic cardiomyopathy were compared with those in 30 healthy persons. Correlations with angiocardiographic data indicated that most of the anatomical abnormalities in hypertrophic cardiomyopathy can be assessed reliably by echocardiography. These include abnormal mitral valve motion, a reduction of the anteroposterior dimension of the left ventricular outflow tract and of the left and right ventricular cavities, increased thickness of the interventricular septum and the posterior left ventricular wall. Comparision of the haemodynamic and echocardiographic data showed that some degree of abnormal mitral valve motion during systole may occur in the absence of left ventricular outflow tract obstruction. On the other hand, it need not always be present with left ventricular outflow tract obstruction. Other, hitherto unrecognized, abnormalities in hypertrophic cardiomyopathy detected by this technique were: (1) Aortic valve regurgitation in three out of nine patients with evidence of left ventricular cutflow tract obstruction at cardiac catheterization. (2) Left ventricular inflow tract obstruction at the mitral valve level associated with gross septal hypertrophy (five cases). (3) Abnormal forward displacement of the posterior mitral valve leaflet and of the chordae tendineae during systole in 10 patients, in seven of whom there was confirmatory angiocardiographic evidence. Seven patients with miscellaneous cardiac disorders are described in whom asymmetric septal hypertrophy was revealed by echocardiography. In one of these patients coexisting hypertrophic cardiomyopathy was excluded histologically; thus asymmetrical septal hypertrophy is not confined to patients with hypertrophic cardiomyopathy.
Adolescent↗
Genetic diversity and molecular mechanisms in hypertrophic cardiomyopathy: toward personalized therapy.
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac muscle disorder, yet contemporary genomic and mechanistic research still lacks a cohesive model explaining how diverse genetic architectures give rise to heterogeneous phenotypes. This review synthesizes advances across sarcomeric and nonsarcomeric mutations, including intermediate-effect variants, polygenic modifiers, and ancestry-dependent sources of variant misclassification to elucidate how these factors govern disease penetrance and clinical expression. It critically evaluates how genetic diversity intersects with key molecular pathways, including sarcomeric hypercontractility, calcium dysregulation, mitochondrial energy deficiency, and transforming growth factor-β (TGF-β) and protein kinase B (AKT)/mammalian target of rapamycin (mTOR) signaling, to drive hypertrophic and fibrotic remodeling. Emerging mechanism-based therapies, such as myosin inhibition, allele-specific silencing, clustered regularly interspaced short palindromic repeats (CRISPR)-based correction, and metabolic modulation, are examined with respect to their capacity to modify upstream molecular drivers rather than downstream hemodynamic consequences. Persistent challenges, including variants of uncertain significance classification, ancestry-biased databases, inequitable access to genetic testing, and unresolved safety concerns for gene-based therapies, are critically assessed as major barriers to precision-medicine integration. By linking genetic architecture, molecular pathogenesis, and targeted interventions, this review advances a contemporary, mechanistically grounded framework that informs both individualized management and future research directions. Future research should prioritize pathway-specific therapeutics, functional and mechanistic validation of emerging variants, deeper physiologic phenotyping to refine disease modeling, and accelerate translation throughout the continuum of HCM pathophysiology.
Humans↗
Q wave T wave vector discordance in hypertrophic cardiomyopathy: septal hypertrophy and strain pattern.
Hypertrophic cardiomyopathy is a common cause of prominent non-infarctional Q waves. A retrospective analysis of previously published cases confirmed a characteristic Q wave T wave vector discordance in hypertrophic cardiomyopathy. In 41 of 44 cases with predominant Q waves (as part of QS or Qr complexes where Q wave amplitude exceeded R wave height), the T wave was positive, and in all cases with QS type complexes the T wave was positive. This characteristic electrocardiographic sign probably represents a pattern of septal hypertrophy and strain (Q waves with positive T waves and ST segment elevation) which is the inverse of the classical pattern of left ventricular hypertrophy and strain (tall R waves with inverted T waves and ST segment depression).
Cardiomyopathy, Hypertrophic↗
Regional left ventricular wall movement in hypertrophic cardiomyopathy.
Left ventriculograms of 20 patients with hypertrophic cardiomyopathy were digitised frame by frame and analysed using a contour display. Abnormalities of regional wall movement were present in 17, and included an abnormal sequence of inward movement during systole (13), regional delay in the onset of inward movement (10), and an abnormal dispersion of peak velocities (5). Diastolic wall movement was disturbed in 13, because of abnormal peak velocities in 7 and regional asynchrony in 6. Abnormal wall movement during the two isovolumic periods was rare in hypertrophic cardiomyopathy, unlike ischaemic heart disease. These disturbances may reflect underlying structural abnormalities.
Cardiomyopathy, Hypertrophic↗
Electrocardiographic findings in patients with obstructive and nonobstructive hypertrophic cardiomyopathy.
One hundred and thiry-four patients with hypertrophic cardiomyopathy were evaluated by standard 12-lead electrocardiography. Normal electrocardiograms were extremely uncommon, occurring in less than 7% of each subgroup of patients (i.e., those with or without either symptoms or obstruction to left ventricular outflow), with the exception of those who were both asymptomatic and had no left ventricular outflow obstruction. Even in this subgroup, however, normal electrocardiograms occurred in only 27% of patients. Repolarization abnormalities and left ventricular hypertrophy were the most common abnormalities, occurring in 81% and 62%, respectively, of the total population. A broad spectrum of other electrocardiographic abnormalities was found, but none was unique to hypertrophic cardiomyopathy. Patients with vs those without electrocardiographic left ventricular hypertrophy or left atrial abnormality had significantly (P less than 0.005) greater mean ventricular septal thickness (22 +/- 0.6 vs 19 +/- 0.6 mm) and left atrial dimension (48 +/- 1 vs 40 +/- 1 mm) measured by echocardiography, and signficantly (P less than 0.01) higher mean pulmonary capillary wedge pressure (16 +/- 1 vs 10 +/- 1 mm Hg) and left ventricular end-diastolic pressure (20 +/- 1 vs 15 +/- 1 mm Hg). The high prevalence and diverse nature of electrocardiographic abnormalities suggest that any patient with an unusual and unexplained electrocardiogram should be suspected of having hypertrophic cardiomyopathy even if the physical examination is normal, as is often the case in patients without obstruction.
Cardiomyopathy, Hypertrophic↗
Changes in cardiac myosin acetylation disrupt the super-relaxed state in genotype-negative hypertrophic cardiomyopathy with type 2 diabetes.
BACKGROUND: Patients with hypertrophic cardiomyopathy (HCM) and type 2 diabetes (T2D) have a more severe cardiac phenotype and worse clinical course than non‑diabetic patients. To identify how T2D aggravates the disease and whether the most abundant cardiac protein, myosin, is involved, we combined functional, structural and mass spectrometry analyses of human samples. METHODS: Left ventricular septal myectomy samples from genotype‑negative (G-) HCM patients without T2D (G- , N = 19) and with T2D (G-T2D, N = 15) were analyzed mainly using fluorescent ATP chase experiments, small‑angle X‑ray diffraction and targeted myosin heavy chain proteomics. RESULTS: Mant‑ATP chase measurements showed a lower fraction of myosin heads in the energy‑conserving super‑relaxed (SRX) state in G-T2D compared to non-diabetic myocardium. In parallel, X‑ray diffraction showed trends toward structural alterations in myosin organization in G-T2D tissue, consistent with altered OFF/ON state equilibrium. Targeted mass spectrometry identified hyperacetylation of several myosin lysine residues in G-T2D, including K847 within the S2 region. All‑atom molecular dynamics simulations indicated that K847 acetylation disrupts stabilizing electrostatic interactions in the interacting‑heads motif, which is associated with the OFF state. CONCLUSIONS: Disruption of myosin super‑relaxation emerges as a central cellular defect in G-T2D HCM myocardium and can be mechanistically linked to site‑specific myosin hyperacetylation at K847, providing a potential therapeutic target for genotype‑negative HCM with T2D.
Humans↗
Management of pregnancy in patients with hypertrophic cardiomyopathy.
The outcome of 54 pregnancies in 23 patients with hypertrophic cardiomyopathy was analysed. No mother or infant died in the perinatal period. Six patients developed dyspnoea requiring treatment with diuretics. Beta-adrenergic blocking drugs were given in 18 pregnancies and three of the infants in this were small for dates and in two fetal bradycardia occurred. The results comfirmed that pregnancy is safe in patients with hypertrophic cardiomyopathy. A flexible approach should be adopted towards administering beta-adrenergic blocking drugs to pregnant women with hypertrophic cardiomyopathy. Many such patients do well without these drugs and can thus avoid the potential hazards--namely, small-for-dates babies and fetal bradycardia--that are associated with them.
Adult↗
Anterior QRS loop in hypertrophic cardiomyopathy.
Frank vectorcardiograms (VCGs) were reviewed in 45 patients with hypertrophic cardiomyopathy (HCM), 26 with obstruction and 19 without obstruction. Twelve of the 19 patients without obstruction and five of the 26 patients with obstruction were found to have predominantly anterior QRS loops. Fourteen patients had a large left anterior QRS loop with increased anterior and leftward force; the posterior and terminal rightward force were within the normal range, and the T loops were displaced posteriorly and to the right opposite to the QRS loop. Asymmetric septal and apical hypertrophy were noted echocardiographically and/or angiographically. Increased electrical force from the asymmetric hypertrophy of the septal and apical area is proposed to explain this large left anterior loop. Three patients had a QRS loop located anteriorly and to the right with electrocardiograms (ECGs) resembling those of posterolateral myocardial infarction or right ventricular hypertrophy. These finding suggest that (1) hypertrophic cardiomyopathy may be another cause of an anterior QRS loop; (2) the recognition of the large left anterior loop in the VCG in patients with a left ventricular hypertrophy pattern in the ECG is helpful in the diagnosis of HCM, especially the nonobstructive form; and (3) hypertrophic cardiomyopathy should be considered in the differential diagnosis of myocardial infarction or right ventricular hypertrophy.
Adult↗
"Malignant" hypertrophic cardiomyopathy: identification of a subgroup of families with unusually frequent premature death.
Eight families were identified in which premature cardiac death due to hypertrophic cardiomyopathy occurred with unusual frequency. A total of 69 first degree relatives in the eight families were studied; 41 relatives had evidence of hypertrophic cardiomyopathy and 31 (75 per cent) died of their heart disease. Eighteen of these 31 patients were less than 25 years of age at the time of death. Death was sudden and unexpected in 23 of the 31 patients; in 15 of these 23 patients sudden death was the initial manifestation of cardiac disease. The remaining eight patients (seven were from two families) died after a chronic cardiac illness characterized by congestive heart failure, atrial fibrillation or thromboembolic events. Hence, premature cardiac death occurs frequently in certain families with hypertrophic cardiomyopathy. Such deaths are usually sudden, often occur in previously asymptomatic subjects and are common in children and young adults. These findings suggest that some families may manifest an unusually virulent expression of hypertrophic cardiomyopathy. Although this study cannot establish the precise prevalence with which "malignant" hypertrophic cardiomyopathy occurs, such families appear to be uncommon.
Adolescent↗
Hypertrophic cardiomyopathy in the aged.
Although usually considered a disease of young or middle-aged adults, hypertrophic cardiomyopathy is not infrequently seen in older patients as well. Twenty of 23 cases of hypertrophic cardiomyopathy seen in the past 2 1/2 years at our institution have been in patients whose average age was 65 years, and who ranged up to 76 years. Sixteen of these had evidence of an obstructive component at cardiac catheterization or echocardiography. Symptoms and signs were similar to those described for the younger patients in the literature, but were often attributed to other causes, including valvular aortic stenosis, arteriosclerotic or hypertensive heart disease, or cerebrovascular disease. Left ventricular hypertrophy was more consistently present on ECG than on x-ray. The not-infrequent occurrence of hypertrophic cardiomyopathy in older patients, predominantly females, indicates that the natural history of this disease includes a group who suffer few or no symptoms until late in life. Clinical management of younger patients with this diagnosis should be considered in light of this more favorable possible course.
Age Factors↗
HL-A and hypertrophic cardiomyopathy.
HL-A antigens were determined in 26 unrelated Japanese patients with hypertrophic cardiomyopathy. Several antigens were more common in patients compared with controls, but statistically significant differences were not evidenced. We also studied two families in which many had a hypertrophic cardiomyopathy. All the affected individuals revealed HL-A-A9 and B7, while none among the unaffected family members had HL-A-B7. Our findings suggest that the HLA-A system may play some role in the pathogenesis of hypertrophic cardiomyopathy with familial occurrence.
Adolescent↗