Unexplained Cardiac Failure Research Articles

Classic Ehlers-Danlos syndrome and cardiac transplantation - Is there a connection?

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders comprised of several types. Classic EDS is an autosomal dominant disorder with stretchable skin, delayed wound healing with poor scarring, joint hypermobility with subluxations or dislocations, easy bruisability, hernias, aneurysms and cardiac abnormalities. Advances in genomics technology using next-generation sequencing has led to the discovery of causative genes for connective tissue disorders, hereditary cardiomyopathies and cardiovascular diseases including several genes for connective tissue disorders. A 55 year-old male exhibited thin stretchable skin, atrophic scars, easy bruising, joint pain and dislocations requiring multiple knee surgeries and a Beighton hyperflexibility score of 6 out of 7. He was found to have a heterozygous missense COL5A1 gene variant involving exon 3 at nucleotide c:305T>A with an amino acid position change at p.lle102Asn consistent with classic EDS. He had a heart transplant at 43 years of age due to cardiac failure of unknown cause. This patient with classic EDS is brought to medical attention and should be of interest to cardiologists, heart transplant specialists and surgeons, particularly in individuals with unexplained cardiac failure and then diagnosed prior to surgical intervention to avoid poor wound healing, scarring and other tissue involvement (e.g., vascular anomalies, blood pressure instability, aneurysms) as components of EDS.

Peripartum cardiomyopathy.

Peripartum cardiomyopathy (PPCM) is a rare form of unexplained cardiac failure of unknown origin, unique to the pregnant woman with highly variable outcome associated with high morbidity and mortality. PPCM is fraught with controversies in its definition, epidemiology, pathophysiology, diagnosis and management. PPCM is frequently under diagnosed, inadequately treated and without a laid down follow-up regimen, thus, the aim of this review. Publications on PPCM were accessed using Medline, Google scholar and Pubmed databases. Relevant materials on PPCM, selected references from internet services, journals, textbooks, and lecture notes on PPCM were also accessed and critically reviewed. PPCM is multifactorial in origin. It is a diagnosis of exclusion and should be based on classic echocardiographic criteria. The outcome of PPCM is also highly variable with high morbidity and mortality rates. Future pregnancies are not recommended in women with persistent ventricular dysfunction because the heart cannot tolerate increased cardiovascular workload associated with the pregnancy. Although, multiparity is associated with PPCM, there is an increased risk of fetal prematurity and fetal loss. PPCM is a rare form of dilated cardiomyopathy of unknown origin, unique to pregnant women. The pathophysiology is poorly understood. Echocardiography is central to diagnosis of PPCM and effective treatment monitoring in patients of PPCM. The outcome is highly variable and related to reversal of ventricular dysfunction.

Post-mortem examination after cardiac surgery.

Following a recent enquiry into surgery at a paediatric cardiac centre in England, there will be substantial changes in the way that the success and failure of surgical procedures will be monitored and investigated. Post-mortem examinations on patients dying after cardiac surgery are likely to be performed and reported in more detail. This review describes the protocol that we have developed and summarizes recent clinical and pathological studies that have increased our understanding of postoperative pathophysiology. Close attention should be paid to the history, particularly the operation note. Cardiac failure is the commonest cause of death. We believe this is a clinicopathological diagnosis and provide definitions of preoperative and perioperative cardiac failure. Haemorrhage, stroke, pulmonary emboli and infection are other important causes of death. Methods of dissection are suggested for bypass grafts and valve replacements. Two recent studies show that the post-mortem examination provides answers to most clinical questions and reveals an unexpected cause of death in 10-15% of patients. There are limitations however: an incomplete or indeterminate cause of death is found in 14-25% of patients, most commonly sudden clinically unexplained death or clinically unexplained cardiac failure soon after surgery.

M-mode and two-dimensional echocardiographic features in cardiac amyloidosis.

Twenty-eight patients with cardiac amyloidosis were studied by echocardiography -- 26 by M-mode and 13 by two-dimensional (2D) studies. All had heart failure and biopsy-proved amyloidosis, M-mode features included (1) normal left ventricular (LV) dimension in all; (2) thickened ventricular septum (88%), LV posterior wall (77%), and right ventricular (RV) anterior wall (79%); (3) decreased thickening of ventricular septum (96%) and of LV posterior wall (65%) and reduced LV global function (62%); (4) left atrial enlargement (50%); and (5) pericardial effusion (58%). Two-dimensional echocardiography provided additional features: (1) thickened papillary muscles (five of 13); (2) thickened valves (four of 13); (3) better appreciation of thickened RV wall; and (4) a characteristic "granular sparkling" appearance of thickened cardiac walls -- presumably secondary to the amyloid deposit -- which was noted in 12 of 13 patients. Thus, M-mode echocardiography is helpful in the recognition of cardiac amyloidosis. However, the better appreciation with 2D echocardiography of thickened cardiac walls with a "granular sparkling" appearance in patients with unexplained cardiac failure is virtually diagnostic of cardiac amyloidosis.

Adverse Effects of Right Ventricular Pacing in a Patient with Aortic Stenosis: Hemodynamic Documentation and Management

A patient with moderate aortic stenosis, left ventricular hypertrophy, and a permanent right ventricular pacemaker for a sick sinus node presented with hypotension, dizziness, and angina pectoris with paced beats. The hemodynamics of pacing were documented with non-invasive and invasive studies. The patient was successfully treated with a programmable generator and pacing at a lower rate. The neccessity of evaluating the effects of a temporary pacemaker before insertion of a permanent one and of a reevaluation of the hemodynamic status in the presence of unexplained cardiac failure in a patient with permanent pacemaker are emphasized in this case report.

Protean clinical manifestations of primary tumors of the heart

A series of thirteen primary tumors of the heart is reported, with emphasis upon the diagnostic features. Included are nine patients with myxomas of the left atrium, one with myxoma of the left ventricle, one with myxoma of the right atrium and two with other cardiac tumors. In patients with myxomas of the left atrium clinical findings imitated a variety of cardiac lesions; they were typical of pure mitral stenosis in three, of combined stenosis and regurgitation of the mitral valve in two and of pure mitral regurgitation in two. One patient had unexplained cardiac failure without murmurs and was thought to have cardiomyopathy. One patient had no evidence of cardiac disease but did have systemic emboli. The patient with left ventricular myxoma had features suggesting hypertrophic subaortic stenosis. The patient with right atrial myxoma had severe cyanosis and polycythemia, suggesting the cyanotic form of congenital heart disease. In the patient with right ventricular teratoma, symptoms suggested the presence of infundibular pulmonary stenosis; one patient with a left ventricular fibroma was thought to have an unusual form of congenital heart disease. The various features alleged to be characteristic of myxomas are seldom combined in a single case. Consequently the variability of the clinical features of cardiac tumors should be kept in mind; angiocardiographic examinations, capable of positively identifying such tumors, should not be omitted in any patient with valvular heart disease who shows unusual features or in those with obscure cardiac problems.

Intramural ventricular cardiac fibroma. Successful removal in two cases and review of the literature.

Two cases in which large intramural ventricular cardiac fibromas were successfully removed from children are reported. In one the fibroma was principally septal, and in the other it lay in the free wall of the left ventricle. These are the second and third such operations reported. A review of these two cases plus 34 other reported cases of cardiac fibroma indicates that a primary mural tumor of the heart should be suspected in patients, particularly children, with unexplained cardiac failure, unexplained cardiac dysrhythmia, intracardiac calcifications, irregular shadows on roentgenograms, or unexplained newly developing cardiac symptoms and murmurs. Angiocardiography is the best way of confirming the diagnosis. In view of the potential hazard of these tumors, their surgical removal should be undertaken, and this experience indicates that even very large and extensive intramural ventricular tumors may be removed successfully.

Successful excision of a left ventricular hamartoma. Report of a case.

A case of a 2-year-old child with a large hamartoma of the left ventricular wall is presented. The excision of the tumor is described, and a 2-year follow-up is given. Primary cardiac tumors should be suspected in patients with unexplained cardiac failure, unexplained cardiac arrhythmias, intracardiac calcifications, irregular shadows on x-ray, or symptoms and murmurs that change with position. Angiocardiography is suggested for diagnosis. Technical problems at operation involve the maintenance of satisfactory cardiac function and valve competence.