Hypertrophic cardiomyopathy is the most common genetic cardiac disease with vast genetic heterogeneity. First-degree relatives of patients with HCM are at 50% risk of inheriting the disease-causing mutation. Genetic testing is helpful in identifying the relatives harbouring the mutations. When genetic testing is not available, relatives need to be examined regularly. We tested a cohort of 99 unrelated patients with HCM for mutations in MYH7, MYBPC3, TNNI3 and TNNT2 genes. In families with identified pathogenic mutation, we performed genetic and clinical examination in relatives to study the influence of genetic testing on the management of the relatives and to study the usefulness of echocardiographic criteria for distinguishing relatives with positive and negative genotype. We identified 38 genetic variants in 47 patients (47 %). Fifteen of these variants in 21 patients (21 %) were pathogenic mutations. We performed genetic testing in 52 relatives (18 of them (35 %) yielding positive results). Genetic testing of one HCM patient allowed us to omit 2.45-5.15 future cardiologic examinations of the relatives. None of the studied echocardiographic criteria were significantly different between the relatives with positive and negative genotypes, with the exception of a combined echocardiographic score (genotype positive vs. genotype negative, 3.316 vs. -0.489, P = 0.01). As a conclusion, our study of HCM patients and their relatives confirmed the role of genetic testing in the management of the relatives and found only limited benefit of the proposed echocardiographic parameters in identifying disease-causing mutation carriers.
- MeSH
- Adult MeSH
- Echocardiography MeSH
- Genetic Variation MeSH
- Genetic Testing MeSH
- Genotype MeSH
- Heterozygote MeSH
- Cardiomyopathy, Hypertrophic diagnosis genetics MeSH
- Cohort Studies MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Mutation MeSH
- Cardiac Myosins genetics MeSH
- Myosin Heavy Chains genetics MeSH
- Carrier Proteins genetics MeSH
- Troponin T genetics MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
AIMS: Hypertrophic cardiomyopathy (HCM) is predominantly associated with left ventricular outflow tract (LVOT) obstruction. The assessment of the obstruction with a provoking test should be a routine part of HCM evaluation. The aim of the study was to determine the utility of a sublingual spray application of isosorbide dinitrate (ISDN) for detection of an obstruction. METHODS AND RESULTS: We have prospectively analysed 77 consecutive HCM patients, measuring the LVOT gradient at rest, using the sublingual spray application of ISDN (2.5 mg; after 2, 5, and 10 min), and with exercise echocardiography. An obstruction was defined as a gradient ≥ 30 mmHg. An obstruction was present in 15 patients (19%) at rest, in 42 patients (55%) after ISDN, and in 55 patients (71%) after exercise. The ISDN test had a sensitivity of 76% and the specificity of 100% relative to exercise echocardiography, while at-rest measurements had a sensitivity of 27% and a specificity of 100%. The chronological difference in the prevalence of obstructions during the ISDN test was statistically significant (P < 0.05); at ISDN plus 2 min, obstructions were seen in only 29 patients (38%, gradient 28.8 ± 25.0 mmHg), however, at ISDN plus 5 and 10 min, obstructions were found in 42 patients (55%, gradient 44.5 ± 39.6 mmHg). CONCLUSION: The ISDN test is a reliable screening method for the detection of an HCM obstruction, however, the measurement should be delayed 5-10 min after the application of ISDN. Patients with negative ISDN tests should undergo exercise echocardiography.
- MeSH
- Administration, Sublingual MeSH
- Cardiomyopathy, Hypertrophic physiopathology MeSH
- Isosorbide Dinitrate administration & dosage diagnostic use MeSH
- Middle Aged MeSH
- Humans MeSH
- Ventricular Outflow Obstruction complications ultrasonography MeSH
- Sensitivity and Specificity MeSH
- Vasodilator Agents administration & dosage diagnostic use MeSH
- Echocardiography, Stress MeSH
- Exercise Test MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
BACKGROUND: Alcohol septal ablation (ASA) is a catheter-based intervention that has been used as an alternative to surgical myectomy in highly symptomatic patients with hypertrophic obstructive cardiomyopathy (HOCM). METHODS: This retrospective study was designed to evaluate the incidence of major complications in the mid-term follow-up of low-dose (1-2.5 ml of ethanol), echo-guided alcohol septal ablation. RESULTS: A total of 101 consecutive patients (56 +/- 15 years) with highly symptomatic HOCM were enrolled. At 6 months, there was a significant decrease in resting outflow gradient accompanied by reduction in basal septal diameter and improvement in symptoms (P < 0.01). Two patients (2%) experienced procedural ventricular tachycardias terminated by electrical cardioversion. A total of 87 patients (86%) underwent an uneventful postprocedural hospital stay. The postprocedural complete heart block occurred in 10 patients (10%), and subsequent permanent pacemaker was implanted in four cases (4%). Sustained ventricular arrhythmias requiring electrical cardioversion occurred in four patients (4%) within postprocedural hospital stay. Subsequently, ICD was not implanted in any of these cases. The patients were repeatedly examined by Holter ECG monitoring, and in the mid-term follow-up (6-50 months), they stayed asymptomatic and without any ventricular arrhythmias. CONCLUSION: This study demonstrates the same early incidence of complete heart block requiring permanent pacemaker implantation (4%) and sustained ventricular arrhythmias following low-dose, echo-guided ASA.
- MeSH
- Time Factors MeSH
- Adult MeSH
- Electric Countershock MeSH
- Electrocardiography, Ambulatory MeSH
- Ethanol administration & dosage adverse effects MeSH
- Cardiomyopathy, Hypertrophic therapy ultrasonography MeSH
- Injections MeSH
- Ultrasonography, Interventional MeSH
- Cardiac Pacing, Artificial MeSH
- Tachycardia, Ventricular diagnosis etiology therapy MeSH
- Middle Aged MeSH
- Humans MeSH
- Retrospective Studies MeSH
- Aged MeSH
- Heart Block diagnosis etiology therapy MeSH
- Cardiac Catheterization adverse effects MeSH
- Treatment Outcome MeSH
- Dose-Response Relationship, Drug MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- MeSH
- Diagnosis, Differential MeSH
- Echocardiography methods utilization MeSH
- Cardiomyopathy, Hypertrophic diagnosis etiology physiopathology MeSH
- Hypertrophy, Left Ventricular diagnosis MeSH
- Hypertrophy, Right Ventricular diagnosis MeSH
- Humans MeSH
- Magnetic Resonance Imaging utilization MeSH
- Check Tag
- Humans MeSH
Náhlá smrt je nejzávažnější manifestace hypertrofické kardiomyopatie (HCM), která se často vyskytuje jako první projev této nemoci u mladých a asymptomatických nemocných. Z tohoto důvodu má stratifikace rizika a prevence náhlé smrti klíčovou roli v určení správného terapeutického postupu. Důležitosti nabyla zejména po získaní důkazů, že implantace kardioverteru-defibrilátoru (ICD) je vysoce účinnou metodou v prevenci náhlé smrti. V současné době se za doložené rizikové faktory náhlé smrti považují: 1. synkopa nejasné etiologie, 2. rodinná anamnéza náhlé smrti, 3. anamnéza kardiopulmonální resuscitace nebo spontánně vznikající setrvalé komorové tachykardie, 4. hypotenzní reakce na zátěž, 5. hypertrofie stěny levé komory > 30 mm a 6. paroxysmy nesetrvalé komorové tachykardie. S rozvojem dalších vyšetřovacích metod (především magnetické rezonance a genetického vyšetřování) se postupně odhalují další rizikové faktory, které se zatím pokládají za ne zcela potvrzené, a tudíž malé.
Sudden death is the most serious manifestation of hypertrophic cardiomyopathy (HCM), often occurring as the first presentation of this disease in young and asymptomatic patients. It is for this reason that sudden death risk stratification and prevention play a key role in choosing the therapeutic strategy in the HCM patient. Sudden death risk stratification has gained in importance particularly after obtaining evidence that implantable cardioverter-defibrillator (ICD) implantation is a highly effective method for sudden death prevention. At present, the established risk factors for sudden death include: 1. syncope of unclear etiology, 2. a family history of sudden death, 3. a history of cardiopulmonary resuscitation or spontaneously occurring sustained ventricular tachycardia, 4. a hypotensive response to exercise, 5. left ventricular wall hypertrophy > 30 mm, and 6. nonsustained ventricular tachycardia paroxysms. Other risk factors, currently considered only minor ones, are being gradually identified with the development of other methods of examination (primarily magnetic resonance imaging and genetic testing).
