Rare Cause Of Dilated Cardiomyopathy Research Articles

Long QT interval revealing severe hypcalcemic dilated cardiomypathy : A case report

Hypcalcemia is a rare cause of dilated cardiomyopathy, but should be suspected in the presence of an obvious long QT interval on the surface ECG; we report a case of 46 years-old-woman, with surgical history of thyroidectomy 6 years ago, admited in our cardiology departement for mangement of congestive heart failure secondary to dilated cardiomyopathy, her surface ECG showed sinus rhythm with long QT interval, his blood tests showed severe hypocalcemia and low serum concentration of parathyroid hormone (PTH), cardiac magnetic resonance imaging was in favor of non ischemic dilated cardiomyopathy. Concomitant with conventionel heart failure treatement, our patient had received parenteral calcium supplementation, vitamin D, levothyrox; after four weeks, heart failure symptomes were relieved, the intervalle QT has shortened, but persistant severe left ventricular systolic dysfuction. Hypoparathyroidism is frequent after thyroidectomy, and could be responsible of severe hypocalcemia which in turn may induce irreversible dilated cardiomyopathy.

Abstract 19052: Interferon B1A-Induced Dilated Cardiomyopathy

Introduction: Congestive heart failure is a leading causes of morbidity and mortality. Interferon therapy is a rare cause of dilated cardiomyopathy (DCM) and Heart Failure with Reduced Ejection Fraction (HFrEF). Specifically, interferon Alpha has been associated with cardiotoxicity. Here we describe a case of interferon B1A - induced HFrEF and DCM in a patient who took subcutaneous Interferon B1A for 11 years before developing clinical signs of heart failure. To our knowledge, only four other cases have been reported. Case Description: A 70-year-old man with a history of multiple sclerosis managed with Interferon B1A presented with shortness of breath, orthopnea, and lower extremity edema for 10 days. Physical examination revealed jugular venous distension and pitting edema. Brain natriuretic peptide (BNP) was 1580 pg/mL, troponin was 49 ng/L. Lipid panel, complete blood count, complete metabolic panel, Hemoglobin A1c, and thyroid stimulating hormone were within normal limits. Urine drug screen was negative. Chest X-ray revealed pulmonary vascular congestion and small pleural effusions bilaterally. A Transthoracic echocardiogram revealed mild aortic root dilatation (4.1cm), significant four-chamber dilatation, severely reduced left ventricular (LV) systolic function with an estimated ejection fraction of 20%, diastolic LV dysfunction, and moderately reduced systolic RV function, consistent with HFrEF and DCM (LVIDD 6.1cm). Coronary angiography showed normal coronary anatomy. The patient was started on guideline-directed medical therapy for HFrEF. Close follow-up was arranged to track improvement in systolic function after cessation of interferon b1a and consideration for Cardiac MRI and possible RV biopsy to evaluate for other causes of cardiomyopathy. Discussion/Conclusions: Due to the patient’s negative ischemic workup and absence of risk factors for cardiovascular disease, we strongly suspect that the patient’s cardiomyopathy was due to interferon B1A. With only 4 other cases of interferon B1A-induced DCM reported, it is a rare cause of medication-induced DCM. Interferon B1A should be considered a potential risk factor for developing heart failure, especially in high-risk patients.

B-PO05-213 REVERSAL OF HYPOCALCEMIA-INDUCED DILATED CARDIOMYOPATHY TREATED WITH CRT-D

Hypocalcemia is a rare cause of dilated cardiomyopathy (DCM). Pathophysiology involves decreased myocyte contractility and prolongation of QTc interval. CRT-D is a proven therapy in patients with DCM. We present a novel case of hypocalcemic DCM and syncope that was refractory to GDM, including calcium replacement, that responded to CRT. N/A A 52-year-old woman with DCM and chronic hypocalcemia secondary to hypoparathyroidism presented for biventricular ICD placement. Hypocalcemia began after hemithyroidectomy. She was first diagnosed with heart failure after 10 years of hypocalcemia (mean 6.6 +/- .92 mg/dL). ECG was sinus rhythm with left bundle branch block (QRS 146 ms). TTE showed LVEF of 20% and 4-chamber enlargement. Cardiac catheterization did not show coronary artery disease. After 3 months of GDM and correction of calcium, she continued to have NYHA class III symptoms without change in EF. She was hospitalized for syncope concerning for malignant arrhythmia. QTc was 524 ms (JTc = 378 ms). Cardiac MR did not show evidence of fibrosis or scar. She had class 1b indication for CRT due to LVEF <35% and LBBB and underwent successful placement of Biotronik BiV ICD with LV lead placed into posterolateral branch. At 3-month follow-up she had 100% biventricular pacing. Her LVEF increased from 20% to 35%, LVIDd and LVIDs decreased by 15% (6.76 to 5.73 cc) and 24% (6.10 to 4.64 cc). After prolonged correction of calcium, QTc normalized (474 ms). CRT-D therapy has multiple indications in hypocalcemia-induced DCM, including improvement of LV size and function and prevention of fatal arrhythmias related to QTc prolongation.

Hypopituitarism: A Very Rare Cause of Dilated Cardiomyopathy in a Child

Dilated cardiomyopathy (DCMP), the leading type of cardiomyopathy in children, can be either a primary disease or secondary to a host of pathologies. Endocrine diseases are an extremely rare cause of DCMP in children. Hypopituitarism (congenital or acquired), a rare condition in children, may present in a variety of phenotypes depending on the hormonal deficiency (partial vs. pan hypopituitarism) and associated developmental defects. We describe a 10 year old boy with short stature, severely retarded bone age and congestive cardiac failure (CCF). He was diagnosed to have DCMP with hypopituitarism. Review of literature reveal possible mechanisms of DCMP and CCF in hypopituitarism and probably also indicate favorable response to hormonal replacement therapy.

Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death

Familial dilated cardiomyopathy is a rare cause of dilated cardiomyopathy (DCM), especially in childhood. Our aim was to describe the clinical course and the genetic variants in a family where the proband was a four-month-old infant presenting with respiratory problems due to DCM. In the family, there was a strong family history of DCM and sudden cardiac death in four generations. DNA was analyzed initially from the deceased girl using next-generation sequencing including 50 genes involved in cardiomyopathy. A cascade family screening was performed in the family after identification of the TNNT2 and the BAG3 variants in the proband. The first-degree relatives underwent clinical examination including biochemistry panel, cardiac ultrasound, Holter ECG, exercise stress test, and targeted genetic testing. The index patient presented with advanced DCM. After a severe clinical course, the baby had external left ventricular assist as a bridge to heart transplantation. 1.5 months after transplantation, the baby suffered sudden cardiac death (SCD) despite maximal treatment in the pediatric intensive care unit. The patient was shown to carry two heterozygous genetic variants in the TNNT2 gene [TNNT2 c.518G>A(p.Arg173Gln)] and BAG3 [BAG3 c.785C>T(p.Ala262Val)]. Two of the screened individuals (two females) appeared to carry both the familial variants. All the individuals carrying the TNNT2 variant presented with DCM, the two adult patients had mild or moderate symptoms of heart failure and reported palpitations but no syncope or presyncopal attacks prior to the genetic diagnosis. The female carriers of TNNT2 and BAG3 variants had more advanced DCM. In the family history, there were three additional cases of SCD due to DCM, diagnosed by autopsy, but no genetic analysis was possible in these cases. Our findings suggest that the variants in TNNT2 and BAG3 are associated with a high propensity to life-threatening cardiomyopathy presenting from childhood and young adulthood.

Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young

Truncating mutations in the TTN gene are the most common genetic cause of dilated cardiomyopathy in adults but their role in young patients is unknown. We studied 82 young dilated cardiomyopathy subjects and found that the prevalence of truncating TTN mutations in adolescents was similar to adults, but surprisingly few truncating TTN mutations were identified in affected children, including one confirmed de novo variant. In several cases, truncating TTN mutations in children with dilated cardiomyopathy had evidence of additional clinical or genetic risk factors. These findings have implications for genetic testing and suggest that single truncating TTN mutations are insufficient alone to cause pediatric-onset dilated cardiomyopathy.

A rare cause of dilated cardiomyopathy, the left coronary artery from the pulmonary artery (ALCAPA): Accurate diagnosis with dual-source CT

An anomalous origin of the left coronary artery (LCA) from the pulmonary artery (ALCAPA syndrome) or Bland–White–Garland syndrome is a rare congenital cardiac anomaly. This syndrome is a rare cause of dilated cardiomyopathy. We report an 8-year-old male patient who presented with intermittent atypical substernal discomfort and mild exertional dyspnea. Dual Source CT and Coronary angiography demonstrated the dilated left atrium and left ventricle with consistent dilated cardiomyopathy and the right coronary artery (RCA) arising from the aorta, rich collaterals from the RCA to LCA and the LCA originated from the pulmonary trunk.

Coronary Endothelial Dysfunction Demonstrated by Means of 15O-Labeled Water PET/CT in Hypothyroid Cardiomyopathy

Hypothyroidism is a rare cause of dilated cardiomyopathy. Triiodothyronine was found to target endothelial nitric oxide synthase, which serves to enhance peripheral vascular relaxation by acting on vascular smooth muscle cells. In patients with subclinical hypothyroidism, adenosine-induced coronary flow reserve is significantly reduced. We report the case of a 46-year-old woman with hypothyroid cardiomyopathy manifested as reversible severe left ventricular dysfunction (LVEF = 32%). O-labeled water PET at rest and during cold pressor test showed a severe coronary endothelial dysfunction. In patients with severe hypothyroidism, endothelial function is impaired and may be an important mechanism of heart failure.

Primary hypothyroidism: uncommon presentation with reversible dilated cardiomyopathy in a young subject

: Most patients with dilated cardiomyopathy have a poor prognosis that is associated with progressive and irreversible myocardial dysfunction. Rarely, a reversible metabolic etiology that is amenable to specific therapy is identified. Thyroid hormones have many effects on the heart. Although cardiac output is reduced in hypothyroidism, heart failure is relatively rare due to the lower demand for peripheral oxygen delivery. We report a 14-year-old girl who presented with dilated cardiomyopathy (DCM) and was determined to have primary hypothyroidism, for whom cardiac function improved significantly after levothyroxine replacement therapy. Our case underscores the necessity of thyroid function testing to examine the etiology of nonischemic DCM, even in young subjects. Implication for health policy/practice/research/medical education:Hypothyroidism is a rare cause of dilated cardiomyopathy and hormonal treatment with levothyroxine can significantly improve myocardial function. Hence it is felt that thyroid function tests should be systematically performed in all patients with DCM in order to rule out hypothyroidism. Please cite this paper as:Kumar Kota S, Tripathy PR, Krishna Kota S, Jammula S, Kumar Meher L, Modi KD, Primary Hypothyroidism: Uncommon Presentation With Reversible Dilated Cardiomyopathy in a Young Subject. Int J Endocrinol Metab. 2012;10(1): 440-3. DOI: 10.5812/ijem.2382 Copyright © 2012 Kowsar M. P. Co. All rights reserved.

Anesthetic management of peripartum cardiomyopathy using "epidural volume extension" technique: A case series

Peripartum cardiomyopathy is a rare cause of dilated cardiomyopathy in parturients, occurring in approximately one in 1000 deliveries, manifesting during the last few months or the first 5 months of the postpartum period. It can result in severe ventricular dysfunction during late puerperium. The major concern while managing these patients is to optimize fluid administration and avoid myocardial depression, while maintaining stable intraoperative hemodynamics. We present a case series of five parturients that were posted for elective cesarean section and managed successfully by the epidural volume extension technique.

Tachycardia-Induced Cardiomyopathy in a 1-Month-Old Infant

Supraventricular tachycardia (SVT) is the most common arrhythmia in children and is especially common in infants. SVT is typically thought of as an acute condition; however, if unrecognized, a persistent tachyarrhythmia can progress to a state of cardiac contractile dysfunction known as tachycardia-induced cardiomyopathy. A high index of suspicion for an underlying arrhythmia is needed in the workup of any patient with new onset heart failure, and the 12-lead electrocardiogram can aid in the diagnosis. While this may be a rare cause of dilated cardiomyopathy and heart failure in children, the condition is usually reversible and should be considered in infants and young children.

A Case of Hypocalcemia-Induced Dilated Cardiomyopathy

Hypocalcemia is a rare cause of dilated cardiomyopathy. Hypocalcemia induced cardiomyopathy is usually reversible when calcium level returns to normal range. We experienced a case of 57-year-old woman who had suffered from hypocalcemia after total thyroidectomy and its consequence of dilated cardiomyopathy. After supplementation of calcium and vitamin D, symptoms of heart failure and LV function were recovered.

Mutational Analysis of Fukutin Gene in Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy

Mutations in FKTN encoding for fukutin cause Fukuyama-type congenital muscular dystrophy characterized by severe muscle wasting and hypotonia with mental retardation. Fukuyama-type congenital muscular dystrophy is a recessive genetic trait. FKTN mutations in patients with dilated cardiomyopathy (DCM) have been investigated by our research group. The patients showed hyper-CKemia with mild or no muscle weakness and without mental retardation, suggesting that the clinical spectrum of FKTN mutations are wider than previously thought. The current study was designed to further explore the association of FKTN mutations with DCM or hypertrophic cardiomyopathy (HCM). A total of 172 patients with DCM, 144 patients with familial HCM and 384 control individuals were analyzed for FKTN mutations. There was a DCM patient who was a compound heterozygote of a 3-kb insertion mutation and a missense mutation Cys101Phe. The patient showed hyper-CKemia with mild muscle involvement and no brain involvement. In contrast, 2 other DCM patients and 3 controls were heterozygous for the insertion mutation and normal allele, showing that the heterozygous insertion mutation itself was not associated with DCM. No mutation was found in the HCM patients. These observations indicated that the compound heterozygous FKTN mutation was a rare cause of DCM. Hyper-CKemia might be indicative of FKTN mutation in DCM.

Dilated Cardiomyopathy and Adipic Aciduria in Nutritional Rickets

Hypocalcemia secondary to nutritional rickets is a rare cause of dilated cardiomyopathy. It is also not a recognized cause of dicarboxylic aciduria. We report the first case of adipic aciduria, presenting with dilated cardiomyopathy, secondary to hypocalcemia.

Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy

Thymopoietin or TMPO (indicated by its alternative gene symbol, LAP2, in this work) has been proposed as a candidate disease gene for dilated cardiomyopathy (DCM), since a LAP2 product associates with nucleoplasmic lamins A/C, which are encoded by the DCM gene LMNA. We developed a study to screen for genetic mutations in LAP2 in a large collection of DCM patients and families. A total of 113 subjects from 88 families (56 with familial DCM (FDC) and 32 with sporadic DCM) were screened for LAP2 mutations using denaturing high-performance liquid chromatography and sequence analysis. We found a single putative mutation affecting the LAP2alpha isoform in one FDC pedigree. The mutation predicts an Arg690Cys substitution (c.2068C>T; p.R690C) located in the C-terminal domain of the LAP2alpha protein, a region that is known to interact with lamin A/C. RT-PCR, Western blot analyses, and immunolocalization revealed low-level LAP2alpha expression in adult cardiac muscle, and localization to a subset of nuclei. Mutated Arg690Cys LAP2alpha expressed in HeLa cells localized to the nucleoplasm like wild-type LAP2alpha, with no effect on peripheral and nucleoplasmic lamin A distribution. However, the in vitro interaction of mutated LAP2alpha with the pre-lamin A C-terminus was significantly compromised compared to the wild-type protein. LAP2 mutations may represent a rare cause of DCM. The Arg690Cys mutation altered the observed LAP2alpha interaction with A-type lamins. Our finding implicates a novel nuclear lamina-associated protein in the pathogenesis of genetic forms of dilated cardiomyopathy.

PHAEOCHROMOCYTOMA PRESENTING AS DILATED CARDIOMYOPATHY

SUMMARYPhaeochromocytomas are rare endocrine tumours that secrete excessive amounts of catecholamines and can lead to myocarditis and cardiomyopathy. We report a 63‐year‐old man with long‐standing hypertension and diabetes who presented with dilated cardiomyopathy, which was initially thought to be secondary to ischaemic heart disease. Subsequent coronary angiography was normal. Carvedilol therapy unmasked the characteristic features of phaeochromocytoma. Surgical resection of a right adrenal tumour cured his symptoms, hypertension and diabetes, as well as causing a substantial improvement in cardiac function. Phaeochromocytoma should be considered as a rare cause of dilated cardiomyopathy of uncertain aetiology.