Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.

AIMS: The E101K mutation in the alpha-cardiac actin gene (ACTC) has been associated with apical hypertrophic cardiomyopathy (HCM). As prominent trabeculations were described in some carriers, we screened for the E101K mutation in our index patients with HCM, dilated cardiomyopathy (DCM), or left ventricular non-compaction (LVNC). METHODS AND RESULTS: Clinical, echocardiographic, and genetic screening by restriction fragment length polymorphism of the ACTC E101K mutation in 247 families with HCM, DCM, or LVNC. The mutation was found in five index patients (one with LVNC and four with HCM). Clinical and morphological data were obtained from 94 family members. Forty-six individuals had cardiomyopathy (43 with the mutation and three with no genetic study): 23 fulfilled criteria for LVNC, 22 were diagnosed as apical HCM, and one had been diagnosed as restrictive cardiomyopathy. There had been one heart transplant and one congestive heart failure death in patients with severe diastolic dysfunction, and five premature sudden deaths. The E101K mutation was not found in 48 unaffected relatives. Septal defects (eight atrial and one ventricular) were found in nine mutant carriers from four families, and were absent in relatives without the mutation (P = 0.003). CONCLUSION: LVNC and HCM may appear as overlapping entities. The ACTC E101K mutation should be considered in the genetic diagnosis of LVNC, apical HCM, and septal defects.

[Congenital apical left ventricular aneurysm]. / Aneurisma congénito apical ventricular izquierdo.

Congenital ventricular aneurysm is an infrequently occurring disease entity that usually affects the left ventricle. Its etiopathology is unknown. Clinical presentation is variable, and the condition is potentially lethal in some cases. Various imaging techniques are useful in diagnosis and enable the condition to be differentiated from congenital left diverticulum. We present a patient with a calcified congenital ventricular aneurysm who presented with supraventricular and ventricular arrhythmias and who was treated by surgical resection.

[Transient left ventricular apical ballooning without coronary stenoses syndrome: importance of the intraventricular pressure gradient]. / Síndrome de discinesia apical transitoria sin lesiones coronarias: importancia del gradiente intraventricular.

A syndrome of transient apical ballooning without coronary stenosis, which mimics acute myocardial infarction, was recently described. Although several possible etiologic mechanisms have been proposed and investigated, the precise cause remains unclear. We describe 3 cases of transient left ventricular apical ballooning without coronary stenosis, and discuss the etiology of this syndrome, in particular the possible role of a transient intraventricular gradient.

Non-sustained ventricular tachycardia in hypertrophic cardiomyopathy: an independent marker of sudden death risk in young patients.

OBJECTIVES: The aim of this study was to examine the characteristics of non-sustained ventricular tachycardia (NSVT) episodes during Holter monitoring and to determine their relationship to age and prognosis. BACKGROUND: It has been suggested that NSVT is only of prognostic importance in patients with hypertrophic cardiomyopathy (HCM) when repetitive, prolonged, or associated with symptoms. METHODS: We studied 531 patients with HCM (323 male, 39 +/- 15 years). All underwent ambulatory electrocardiogram monitoring (41 +/- 11 h). RESULTS: A total of 104 patients (19.6%) had NSVT. The proportion of patients with NSVT increased with age (p = 0.008). Maximum left ventricular wall thickness and left atrial size were greater in patients with NSVT. Mean follow-up was 70 +/- 40 months. Sixty-eight patients died, 32 from sudden cardiac death (SCD). Twenty-one patients received an implantable cardioverter defibrillator (ICD). There were four appropriate ICD discharges. In patients < or =30 years (but not >30), five-year freedom from sudden death was lower in those with NSVT (77.6% [95% confidence interval (CI): 59.8 to 95.4] vs. 94.1% [95% CI: 90.2 to 98.0]; p = 0.003). There was no relation between the duration, frequency, or rate of NSVT runs and prognosis at any age. The odds ratio of sudden death in patients < or =30 years of age with NSVT was 4.35 (95% CI: 1.54 to 12.28; p = 0.006) compared with 2.16 (95% CI: 0.82 to 5.69; p = 0.1) in patients >30 years of age. CONCLUSIONS: Non-sustained ventricular tachycardia is associated with a substantial increase in sudden death risk in young patients with HCM. A relation between the frequency, duration, and rate of NSVT episodes could not be demonstrated.

[Familial dilated cardiomyopathy in patients transplanted for idiopathic dilated cardiomyopathy]. / Miocardiopatía dilatada familiar en pacientes trasplantados por miocardiopatía dilatada idiopática.

OBJECTIVE: To evaluate the prevalence, clinical features, and pattern of inheritance of familial dilated cardiomyopathy (DCM) in heart transplant patients. PATIENTS AND METHOD: Patients with idiopathic DCM who had undergone heart transplantation were invited to participate. Patients with alcohol abuse were excluded. A clinical evaluation, 12-lead ECG, echocardiogram, blood tests, and DNA extraction were performed in patients and relatives. Familial DCM was defined as the presence of at least one relative with idiopathic DCM. Possible familial DCM was considered when at least one relative had left ventricular enlargement (LVE) (> 112% predicted LVEDD). RESULTS: One hundred and ninety-nine relatives of 43 families were studied. DCM was familial in 11 probands (25.6%) and possibly familial in 11 (25.6%). Fifteen relatives had DCM (7.5%), 26 (13.1%) LVE, and 5 (2.5%) hypertrophic cardiomyopathy. The pattern of inheritance was autosomal dominant in most families. Five probands (3 with familial DCM) had antecedents of consanguinity and possible recessive inheritance. Six probands (14%, 1 with familial DCM) had relatives with conduction system defects. Creatine kinase was moderately increased in 9 relatives (4.5%), 3 of them with LVE. Fifteen patients had at least moderate alcohol intake. Three of them had familial DCM (relatives without alcohol abuse) and 6 had possible familial DCM. CONCLUSIONS: The prevalence of familial DCM is high in patients who undergo heart transplant. Left ventricular enlargement, conduction system abnormalities, and elevated creatine kinase may be early markers of familial disease. Hypertrophic cardiomyopathy is present in some relatives of patients with idiopathic DCM. Familial DCM is present in patients with a previous diagnosis of alcoholic DCM.

[Myocardial ischemia caused by an anomalous circumflex coronary artery]. / Isquemia miocárdica causada por una arteria circunfleja anómala.

The case of a 71-year-old male patient, with symptoms of dizzines and atypical chest pain and a positive isotopic exercise stress test, is reported. Coronary angiography demostrated an anomalous origin of the left circumflex coronary artery from right coronary ostium but no obstructive atherosclerotic coronary lesions. The possible relation between the congenital coronary anomaly and the clinical manifestations of the patient is discussed.

[Sinus of Valsalva aneurysm as a cause of acute myocardial infarction]. / Aneurisma del seno de Valsalva como causa de un infarto agudo de miocardio.

Aneurysmal dilatation of one or more of the sinuses of Valsalva (SVA) is a rare cause of coronary insufficiency. We describe one case of unruptured and partially thrombosed right sinus of Valsalva aneurysm of which the first sign was acute inferior myocardial infarction in a 40-year-old man while reviewing the literature, we found 44 reported cases of sinus of Valsalva aneurysm, complicated by myocardial ischemia or infarction. In 28 cases the left coronary sinus was involved, in 12 cases the right one, and in 4 cases both of them. Myocardial ischemia is a potentially ominous prognostic sign in SVA patients. The poor outcome with conservative treatment leads us to consider the patient for emergency surgical therapy.