1/142. Hereditary dysrhythmic congestive cardiomyopathy.A patient with hereditary congestive cardiomyopathy, who presented with recurrent episodes of life-threatening ventricular arrhythmias most often precipitated by exercise, is described. The condition is marked by either a progressive course, in which case congestive cardiac failure may set in towards the end, or by unexpected sudden death. The family tree could be traced for 10 generations. The information about the tenth generation firmly established that 4 members, 2 of whom had died, were affected. Other evidence suggests that the condition was the cause of death in 3 members of the eighth generation.- - - - - - - - - - ranking = 1keywords = family, member, life (Clic here for more details about this article) |
2/142. Cardiac involvement in proximal myotonic myopathy.Proximal myotonic myopathy (PROMM) is a recently described autosomal dominantly inherited disorder resulting in proximal muscles weakness, myotonia, and cataracts. A few patients with cardiac involvement (sinus bradycardia, supraventricular bigeminy, conduction abnormalities) have been reported. The cases of three relatives with PROMM (weakness of neck flexors and proximal extremity muscles, calf hypertrophy, myotonia, cataracts) are reported: a 54 year old man, his 73 year old mother, and 66 year old aunt. All three presented with conduction abnormalities and one had repeated, life threatening, sustained monomorphic ventricular tachycardia. This illustrates that severe cardiac involvement may occur in PROMM.- - - - - - - - - - ranking = 0.0063635348832717keywords = life (Clic here for more details about this article) |
3/142. Familial isolated noncompaction of the left ventricular myocardium.Noncompaction of the ventricular myocardium (sometimes referred to as 'spongy myocardium') is believed to represent an arrest in endomyocardial morphogenesis. The gross anatomical appearance is characterized by numerous excessively prominent trabeculations and deep intertrabecular recesses. Distinct morphological features can be diagnosed on two-dimensional echocardiography. We present here a family of isolated noncompaction of the left ventricular myocardium, in which 5 affected individuals suggested the presence of some genetic abnormalities in this disorder.- - - - - - - - - - ranking = 0.95308712887847keywords = family (Clic here for more details about this article) |
4/142. Hereditary cardiac amyloidosis associated with the transthyretin Ile122 mutation in a white man.An 83 year old white man with atrial fibrillation was admitted to hospital after a cerebral infarct. echocardiography was characteristic of cardiac amyloid deposition and subsequent tests confirmed amyloidosis of transthyretin (TTR) type, in association with the Ile122 mutation of the TTR gene; this has only been reported previously in african americans in whom it occurs with an allele frequency of 2%. Haplotype analysis did not suggest a different founder than for the African Ile122 mutation. Cardiac amyloidosis should be considered among elderly patients presenting with cardiac failure and/or arrhythmia, particularly if they are resistant to conventional treatment; if confirmed, it should be followed by precise characterisation of amyloid fibril type. The prevalence of autosomal dominant cardiac TTR amyloidosis in elderly white people is unknown but early diagnosis and supportive treatment may prevent complications among affected family members.- - - - - - - - - - ranking = 1.0665805124695keywords = family, family member, member (Clic here for more details about this article) |
5/142. Mild pre-transplant cardiomyopathy may not impair long-term quality of life after bone marrow transplantation.An 8-year-old child with acute myeloid leukemia (AML), underwent an allogeneic bone marrow transplant (BMT) from his HLA matched sister in spite of having a mild cardiomyopathy. We followed the patient with periodic electrocardiograms (ECG) and echocardiograms which have not worsened, and the patient's quality of life is not compromised 14 years after BMT. bone marrow transplantation (2000) 25, 335-336.- - - - - - - - - - ranking = 0.031817674416359keywords = life (Clic here for more details about this article) |
6/142. An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy.We describe two Italian first cousins with familial amyloidotic polyneuropathy associated with transthyretin variant consisting of the substitution of alanine for glycine at codon 47 (TTR Ala-47), from a family with a history of cardiac failure. The 40-year-old patient presented with autonomic dysfunction and the 44-year-old cousin with congestive heart failure. Both developed sensorimotor and autonomic polyneuropathy. Since a similar clinical picture has been described in another Italian family, the cardiac involvement must be regarded as a salient and early feature of the TTR Ala-47 mutation.- - - - - - - - - - ranking = 5.7185227732708keywords = family (Clic here for more details about this article) |
7/142. Detection of cardiac calcinosis in hemodialysis patients by whole-body scintigraphy with 99m-technetium methylene diphosphonate.A noninvasive method for the diagnosis of cardiac calcinosis, a life-threatening complication in hemodialysis patients with end-stage renal disease (ESRD), has not, as yet, been firmly established. We tested whether whole body scanning with 99m-technetium methylene diphosphonate (MDP) might visualize cardiac calcinosis. In 19 consecutive chronic hemodialysis ESRD patients (13 males and 6 females, aged 40-81, mean 63 /- 8 years) with cardiovascular disease [mitral annular calcinosis and/or calcified aortic valve (n = 4), hemodialysis cardiomyopathy (n = 1), coronary artery disease (n = 9) and peripheral artery atherosclerotic disease (n = 6)], MDP uptake in the heart was compared to that in 7 non-ESRD controls with hyperparathyroidism due to adenoma. Cardiac and lung field MDP uptake was confirmed in only 3 (16%) and 5 (26%) of the 19 ESRD subjects, respectively, but was absent in controls. Positive cardiac uptake was related to cardiac calcified complications (mobile intracardiac calcinosis, myocardial calcinosis and mitral annular calcification) and the duration of hemodialysis (p = 0.015). While it was statistically insignificant, subjects showing MDP uptake were elder and had higher serum Ca or Ca x P product and lower intact parathyroid hormone levels. These results suggest that cardiac calcinosis in ESRD patients can be detected noninvasively by myocardial scintigraphy with 99m-technetium MDP.- - - - - - - - - - ranking = 0.0063635348832717keywords = life (Clic here for more details about this article) |
8/142. Fatal cardiac arrhythmia after infusion of dimethyl sulfoxide-cryopreserved hematopoietic stem cells in a patient with severe primary cardiac amyloidosis and end-stage renal failure.amyloidosis (AL) is a rapidly fatal plasma cell dyscrasia causing progressive multiorgan failure. Recently, substantial improvement of survival was reported following high-dose chemotherapy with peripheral blood stem cell (PBSC) rescue. We describe a patient with AL with severe cardiac and renal involvement who received high-dose melphalan followed by fractioned autologous PBSC transplantation (455 ml on day 1 and 350 ml on day 2). Immediately after the second infusion of the PBSCs, life-threatening cardiac arrhythmias occurred and, despite intensive treatment, the patient died less than 24 h later. The infusion of cryopreserved PBSCs may be associated with complications, including cardiac toxicity. dimethyl sulfoxide (DMSO) is the most frequently used cryopreservation agent. In the present case, we suggest that DMSO could have played an important role in causing the fatal cardiac arrhythmias. The mechanisms of the cardiovascular effects of DMSO and the possible preventive measures are discussed. Given the poor prognosis of AL and the promising results of dose-intensive chemotherapy with autologous PBSC transplantation, careful patient selection and intensive monitoring are mandatory in order to further pursue this therapeutic approach.- - - - - - - - - - ranking = 0.0063635348832717keywords = life (Clic here for more details about this article) |
9/142. Primary cardiomyopathy in identical twins.Seventeen year old identical twin brothers with no family history of cardiopathy began experiencing palpitations almost simultaneously. In both, examination revealed marked cardiomegaly and hypokinesia of the ventricular walls, and clinical and radiologic signs of progressive cardiac failure developed a few days later. Both boys died suddenly, 49 days and 5 months, respectively, after the initial examination. Electrocardiographic and vectorcardiographic studies revealed a severe intraventricular conduction disturbance that coincided with histologic changes in the myocardial tissue, including profuse interstitial fibrosis, hypertrophy and degeneration of the myocardial fibers, aberrant arrangement of the muscular fibers and considerable alteration of the structure of cardiac tissue. In the absence of hereditary and chromosomal factors, and excluding possible viral intervention during fetal life, it is believed that a teratogenic factor can produce the structural alterations of the tissue and derangement of the fibers observed in these hearts. The irregular contractions of the heart at the level of the net-like meshwork, disarrangement of myocardial fibers, and adaptative mechanisms of the heart inherent in the destruction of the contractile tissue contributed to the functional cardiac disorders that resulted in congestive heart failure and sudden death in these twins.- - - - - - - - - - ranking = 0.95945066376174keywords = family, life (Clic here for more details about this article) |
10/142. uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder.We report on three male patients from a single family with a brachyturricephaly, "pugilistic" facial appearance, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis. Three other males in the family, now deceased from cardiac disease, appear to have had the same disorder. The mother of the propositus has milder signs of the syndrome. All affected males are related through the maternal line. These cases represent an apparently previously undescribed X-linked recessive syndrome.- - - - - - - - - - ranking = 1.9061742577569keywords = family (Clic here for more details about this article) |
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