scholarly journals Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report

Medicina ◽  
2021 ◽  
Vol 57 (3) ◽  
pp. 281
Author(s):  
Joonhong Park ◽  
Jong-Min Lee ◽  
Jung Sun Cho
Keyword(s):  
Frameshift Mutation ◽  
Phenotypic Diversity ◽  
Restrictive Cardiomyopathy ◽  
Term Treatment ◽  
Left Ventricular ◽  
Exertional Dyspnea ◽  
Korean Family ◽  
Inherited Cardiomyopathy ◽  
Long Term Treatment ◽  
Septal Hypertrophy

Restrictive cardiomyopathy (RCM) is one of the rarest cardiac disorders, with a very poor prognosis, and heart transplantation is the only long-term treatment of choice. We reported that a Korean family presented different cardiomyopathies, such as idiopathic RCM and hypertrophic cardiomyopathy (HCM), caused by the same MYBPC3 mutation in different individuals. A 74-year-old male was admitted for the evaluation of exertional dyspnea, palpitations, and pitting edema in both legs for several months. Transthoracic echocardiography (TTE) showed RCM with biatrial enlargement and pericardial effusion. Cardiac magnetic resonance (CMR) images revealed normal left ventricular chamber size, borderline diffuse left ventricular hypertrophy and very large atria. In contrast to the proband, CMR images showed asymmetric septal hypertrophy of the left ventricle, consistent with a diagnosis of HCM in the proband’s two daughters. Of the five heterozygous variants identified as candidate causes of inherited cardiomyopathy by whole exome sequencing in the proband, Sanger sequencing confirmed the presence of a heterozygous frameshift mutation (NM_000256.3:c.3313_3314insGG; p.Ala1105Glyfs*85) in MYBPC3 in the proband and his affected daughters, but not in his unaffected granddaughter. There is clinical and genetic overlap of HCM with restrictive physiology and RCM, especially when HCM is combined with severe myocardial fibrosis. Family screening with genetic testing and CMR imaging could be excellent tools for the evaluation of idiopathic RCM.

Psychological outcomes of left ventricular assist device long‐term treatment: A 2‐year follow‐up study

2019 ◽  
Vol 44 (1) ◽  
pp. 67-71 ◽  
Author(s):  
Alessandra Voltolini ◽  
Gerardo Salvato ◽  
Maria Frigerio ◽  
Manlio Cipriani ◽  
Enrico Perna ◽  
...  
Keyword(s):  
Left Ventricular Assist Device ◽  
Term Treatment ◽  
Left Ventricular ◽  
Assist Device ◽  
Ventricular Assist ◽  
Follow Up Study ◽  
Long Term Treatment ◽  
Left Ventricular Assist

The role of cross-sectional echocardiography in Kawasaki disease

1991 ◽  
Vol 1 (3) ◽  
pp. 221-224 ◽  
Author(s):  
José A. Ettedgui ◽  
William H. Neches ◽  
Elfriede Pahl
Keyword(s):  
Kawasaki Disease ◽  
Coronary Arteriography ◽  
Term Treatment ◽  
Left Ventricular ◽  
Arterial Stenosis ◽  
Cross Sectional ◽  
Coronary Aneurysms ◽  
Long Term Treatment ◽  
Clear Delineation

SummaryCross-sectional echocardiography is an essential tool in the evaluation ofchildren with Kawasaki disease, both in the acute and chronic stages. In the acute phase of the illness, it is valuable for diagnosis and management of pancarditis and for the long-term monitoring of pericardial effusions, left ventricular function, and the rare cases of chronic valvar dysfunction. When coronary arterial abnormalities are detected, echocardiography can serially evaluate long-term treatment with drugs which prevent the aggregation of platelets and monitor the resolution of coronary aneurysms. The value of cross-sectional echocardiography, nonetheless, is very limited in the detection of coronary arterial stenosis. Coronary arteriography is still important for the diagnosis of obstructive lesions in the coronary arteries and should be used in conjunction with cross-sectional echocardiography for the appropriate long- term management of children with Kawasaki disease at high risk of developing coronary arterial stenosis. Perhaps, in the future, high resolution transesophageal echocardiography will allow clear delineation of coronary arterial anatomy and specifically stenosis, but its role in the evaluation and management of children with Kawasaki disease remains to be explored.

ID: 6: HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY IN THE SETTING OF SYSTEMIC SCLERODERMA

2016 ◽  
Vol 64 (4) ◽  
pp. 919.1-919
Author(s):  
R Sogomonian ◽  
H Alkhawam ◽  
S Lee ◽  
D Chang ◽  
EA Moradoghli Haftevani
Keyword(s):  
Systemic Sclerosis ◽  
Myocardial Fibrosis ◽  
Hospice Care ◽  
Vital Signs ◽  
Restrictive Cardiomyopathy ◽  
Hypertrophic Obstructive Cardiomyopathy ◽  
Left Ventricular ◽  
Diffuse Fibrosis ◽  
Septal Hypertrophy ◽  
Hypertrophied Ventricle

Restrictive cardiomyopathy has been a common variant seen in systemic sclerosis (SS) with myocardial fibrosis. The association of SS with restrictive cardiomyopathy has well been established, but that with HOCM is not clearly understood. Herein, we report a case of a patient with SS, identified to have both HOCM and myocardial fibrosis.A 54-year-old woman with systemic sclerosis, idiopathic lung disease with moderate pulmonary hypertension, presented with fatigue, decreased appetite and shortness of breath. Vital signs were significant for oxygen saturation of 86% on room air, tachycardia of 117 bpm, and blood pressure of 110/53 mm Hg. Physical examination revealed diffuse rhonchi in all lung fields, malar rash and skin excoriation in bilateral lower extremities without edema. Laboratory studies were significant for elevated brain natriuretic peptide (BNP) of 858 pg/mL. Transthoracic echocardiography revealed left ventricular hypertrophy (LVH) with ejection fraction of 78%. Electrocardiography illustrated LVH. Cardiac magnetic resonance imaging (cMRI) was significant for severe left ventricular cardiac asymmetric septal hypertrophy with outflow obstruction caused by anterior motion of the mitral valve. Cardiac biopsy revealed evidence of diffuse fibrosis, but did not show iron, glycogen, or amyloid depositions.Patient was maintained on mycophenolate mofetil, low dose of methylprednisolone, morphine, clonazepam and transferred to hospice care.Hypertrophic obstructive cardiomyopathy (HOCM) is the most common genetic cardiac disorder with an autosomal dominant transmission. It is characterized by asymmetric LVH out of proportion of systemic after load. The most common cardiac involvement in SS is myocardial fibrosis in a restrictive pattern, while HOCM is rarely seen in SS.Abstract ID: 6 Figure 1Cardiac MRI demonstrating hypertrophied ventricle with fibrosis. This image demonstrates the features of both hypertrophic and restrictive cardiomyopathy.

Labetalol: An Alpha- and Beta-Blocker

1983 ◽  
Vol 17 (7-8) ◽  
pp. 543-544 ◽  
Author(s):  
Christopher S. Conner
Keyword(s):  
Term Treatment ◽  
Left Ventricular ◽  
Airway Diseases ◽  
Long Term Treatment ◽  
Β Blockers ◽  
Artery Disease ◽  
Obstructive Airway Diseases ◽  
Concomitant Hypertension ◽  
Rest And Exercise

Labetalol is an investigational α- and β- adrenoreceptor antagonist. The ratio of effective β:α-blockade is approximately 7:1. Labetalol, administered intravenously or orally, has been effective in treatment of hypertension, with minimal effects on cardiac output. Labetalol will offer advantages over propranolol due to its more potent antihypertensive effects and less potent effects on left ventricular function at both rest and exercise in patients with coronary artery disease. The drug will be utilized in patients unresponsive to other β-blocking agents and in patients with congestive heart failure and concomitant hypertension, angina, or arrhythmias when other β-blockers are contraindicated. The drug appears to be safe in obstructive airway diseases and offers advantages over other β-blockers in long-term treatment after myocardial infarction.

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