A rare case of familial restrictive cardiomyopathy, with mutations in MYH7 and ABCC9 genes.

Oana Neagoe,Constantin Militaru,Rodica Diaconu,Ionuţ Donoiu,Oana Mirea,Anda Ciobanu

doi:10.15190/d.2019.12

Abstract

Restrictive cardiomyopathy is the least common type of cardiomyopathy, being defined by diastolic dysfunction and often unimpaired systolic function. Restrictive cardiomyopathies can be classified as familial or non-familial. Patients with familial restrictive cardiomyopathy can develop signs and symptoms of this condition anytime from childhood to adulthood. The evolution of the disease is towards signs and symptoms of pulmonary and systemic congestion and, without treatment, there is a five-year mortality rate of approximately 30% in these patients. We discuss the case of a 43-year-old patient diagnosed with familial restrictive cardiomyopathy with positive genetic tests for mutations of MYH7 gene and ABCC9 gene, who was first hospitalized in 2011 for palpitations. The echocardiography performed in evolution showed a continuous alteration of right ventricle function, without important differences of left ventricular function. She developed heart failure symptoms six years after diagnosis and she had seven hospitalizations in the past two years, currently with an increasing need of diuretics and persistent hepatic dysfunction. Cardiac transplantation or left ventricular assist device therapy should be considered in patients with severe heart failure symptoms and no longer effective treatment. However, elevated pulmonary vascular resistance excludes the patient from cardiac transplantation.

Highlights

Restrictive cardiomyopathies are defined as a group of myocardial diseases that is hallmarked by abnormal diastolic function due to myocardial fibrosis, infiltration or endomyocardial scarring[1,2]
There have been studies that suggested an important contribution for mutations in MYH7 in dilated cardiomyopathy, hypertrophic cardiomyopathy, peripartum cardiomyopathy, non-compaction cardiomyopathy and congenital heart defects
In most patients diagnosed with familial restrictive cardiomyopathy, the severity of heart failure symptoms and the lack of response to treatment could be indications for cardiac transplantation[20,21]

Summary

INTRODUCTION

Fibrosis, infiltration or endomyocardial scarring[1,2]. The main hemodynamic features are excessive rigidity of ventricular walls, high ventricular filling pressures, either low or normal ventricular volume along with often unimpaired systolic function and normal or increased left ventricular wall thickness. We describe the case of a 43-year-old patient diagnosed with familial restrictive cardiomyopathy, with mutations in MYH7 and ABCC9 genes. The diagnosis of restrictive cardiomyopathy has already been put in discussion and the investigation that we recommended was a cardiac MRI, which showed reduced left ventricular volume, normal systolic function (LVEF=62%), normal left ventricular wall thickness, without any pathological changes of regional contractility. The abdominal ultrasound showed liver with diffuse inhomogeneous, hyperechoic echostructure, with slightly irregular contour and dilated hepatic veins, moderate quantity of right pleural fluid (confirmed as well by the chest X-ray) and ascites During the hospitalization she received intravenous diuretics, spironolactone, bisoprolol, acenocumarol, human albumin, hydroelectrolyte rebalancing solutions and right thoracentesis was performed with extraction of 700 mL of fluid, with favorable evolution. In the past 3 years she was hospitalized several times for heart failure symptoms and persistent liver dysfunction, with the need of increasing the daily dose of diuretics to 160 mg furosemide and reintroducing digoxin 0,125 mg/day

Findings

DISCUSSION

CONCLUSION