Restrictive cardiomyopathy is a rare myocardial disease characterized by impaired diastolic function and increased ventricular filling pressure with normal or little — changed systolic function of the myocardium. There is no significant myocardial hypertrophy in this disease. In patients there is circulatory insufficiency without increasing volume of the left ventricle [3,14].
Clinical observation: boy N., age 1 year 6 months.
New onset changes from the heart were detected in May 2019 at the age of 1 year 1 month when examined before surgical treatment of bilateral inguinoscrotal hernia. At that time, they determined a diagnosis: secondary atrial septum defect. The patient was admitted to surgery. During general anesthesia was significant bradycardia. In postoperative period revealed hydropericardium, ascites volume of 400ml, bilateral hydrothorax, signs of the left ventricular hypoplasia, enlargement of the right cardiac chambers and left atrium.
03.06.19 Patient was consulted in the Federal cardiovascular center. They determined a diagnosis: congenial heart disease (mitral valve insufficiency II degree, tricuspid valve insufficiency III degree, overuse of the right cardiac chambers, hydropericardium, increased systolic pressure in the pulmonary artery until 51 mm Hg). He was treated for a long time in the cardiology Department with mixed results.
Since August 2019, cardiac and respiratory insufficiency has been increasing again. 12.08.19 repeated examination was conducted in the Federal cardiovascular center. Were carried out: magnetic resonance tomography (MRT) of the thoracic and abdominal organs, cardiac sounding. Primary pulmonary hypertension and congenital anomaly of the venous system were not detected. It was revealed: open foramen ovale and atriomegalia.
25.09.19 Advisory opinion of the National medical research center: restrictive cardiomyopathy, complicated by pulmonary hypertension, hydropericardium, ascites, chronic cardiac insufficiency 2B 3 degree, grade 3–4. Recommendations for treatment were received.
After surgery of bilateral inguinoscrotal hernia, patient was permanent in the cardiology Department, except for visits to consultations. 22.09.19 Transferred to the intensive therapy unit due to deterioration of health.
Child was from primipregnancy, first labor. Pregnancy were with gestational toxicosis and fetal hypoxia. Delivery by cesarean section. Mature newborn infant. Baby's weight at birth was 3280g. Length of a newborn was 50cm. Breastfeeding was a day after birth. He was discharged from maternal child unit on the fifth day after birth. Breastfeeding was up to 2 months. Neuropsychic development: can hold his head up from 1 month, can seats from 7 months., can stand from 8 months., can walks from 10 months, the beginning of teething from 7 months., language delay. Earlier diseases: acute respiratory infections, bilateral inguinoscrotal hernia. History of allergies: exudative diathesis. Hereditary background is unremarkable about diseases. Prophylactic immunization was by age. Housing conditions are satisfactory.
Status praesens objectivus from 24.10.19
The patient's condition is very ill. There are occur negative changes, episodes of hypotension, desaturation (due to cardiac insufficiency, cardiomyopathy). Body temperature is 36.8°C. Body weight is 10.2 kg. The patient has autonomous breathing, periodically receives oxygen therapy. Mixed dyspnea until 50 per minute continues. The patient has rare productive cough. Oxygen saturation is 98 %. Neurological status: bright-eyed, floppy and willful infant. Glasgow coma scale — 14–15 score. On examination the patient has a reaction of displeasure. Meningeal signs, focal symptoms, convulsions were not marked. The patient is normotonic. There is myosis, OD=OS, pupillary light reflex is normally. Skin cover and mucosae are smooth and pale. There is eyelid swelling. Tissue tone is normally. The patient has harsh breathing. Breath sounds heard throughout all lung fields. There are not pulmonary rales.
There is hemodynamic stability. Arterial tension is 82/45 mm Hg. There are soft heart sounds and systolic murmur. Heart rate is 122 beats per minute. The patient has normal-tension pulse on the radial artery. The abdomen is soft and nontenderis. The abdomen increased in size and palpable in all departments. Liver protrudes below the costal margin by 6cm. Spleen located at costal margin. Defecation was 2 times per day. Diuresis was 360 ml/day after stimulation.
Сlinical blood analysis from 22.10.19: RBC-4,94*1012/l, HGB-80 g/l, HCT-29 %, PLT-244*109/l, WBC-11,8*109/l, EOS %-5 %, NEU %-36 %, LYMF %-32 %, MON %-27 %, erythrocyte sedimentation rate-7 mm/h. Coagulation time — 3,05–3,30 sec. Clinical conclusion: anemia I degree, moderate leukocytosis.
Acid-base balance from 24.10.19: pH=7.38; pCO2=22; pO2=78; Na=130; lactate=3.6. Clinical conclusion: respiratory alkalosis.
Biochemical analysis of blood from 22.10.19: total protein-61, blood urea nitrogen-5.2, creatinine-93, total bilirubin-9.5, AST-45, ALT-59, CRP <6, K-5,9, Ca-1,22, blood glucose-5,5. Clinical conclusion: reduced total protein; increased liver enzymes-AST, ALT; electrolyte derangement (increased potassium).
Cardiac markers from 11.10.19: creatinphosphokinase-151, creatinphosphokinase-M-237, cardiac troponin-neg. Clinical conclusion: no signs of a heart attack.
OAM from 22.10.19: color-light yellow, transparency-transparent, pH-5.5, urine specific gravity-1020, glucose-1.7, protein-neg., ketones-neg., erythrocytes-4–5 per HPF, leukocytes-4–6 per HPF, bacteria-neg., epithelium-neg., granular cylinders-4–5 per HPF, hyaline cylinders-1–2 per HPF. Clinical conclusion: glucosuria, microhematuria, leucocyturia, granular cylindruria.
Urine for sterility from 17.07.19: sterile.
Instrumental method of examination
Electrocardiography from 10.10.19: light sinus tachycardia with heart rate 136 beats per minute. Deviation of the cardiac electrical axis to the left. Signs of enlargement of both atria.
Holter monitoring from 11–12.10.19: sinus rhythm with heart rate from 98 to 157 (average heart rate 125) beats per minute at a rate of 117.2+/-7.3. Rhythm pauses are within normal limits. Signs of enlargement of both atria. Prolongation of Q-T interval. QT=0.43–0.47. Signs of ischemia throughout monitoring.
Pneumonography from 24.10.19: pulmonary fields of satisfactory transparency, no infiltrative changes were detected. The vascular-interstitial pattern is moderately enhanced on both sides due to the interstitial reaction. The roots of lungs are covered by the shadow of the mediastinum. Linear thickening of the costal pleura on the right, effusion in the pleural cavities is not clearly defined. The heart shadow is expanded across. The cardiothoracic index is 0,68. Diaphragm, sinuses have not changed.
Echocardiography from 24.10.19: hydropericardium: perhaps 10–12ml. Conclusion: enlargement of both atria. Regurgitation on tricuspid valve 3 degree, on mitral valve 1 degree. Interatrial communication. The contractile function of the left ventricle is within normal limits. The average pressure in the pulmonary artery is not increased. Minor cardiac abnormalities. A small amount of fluid in the pericardial cavity.
Ultrasonography of internal organs from 24.10.19-enlargement of the liver with diffuse changes. Secondary changes in the gall bladder wall. Ultrasound-signs of moderate ascites.
Treatment in the department of cardiology:
– digoxin; dobutamine; enalapril; carvedilol;
– furosemide; veroshpiron;
Treatment in the intensive care unit:
– enteral nutrition (table 16);
– antibacterial, antiviral and antifungal therapy;
– infusion therapy;
– inotropic support;
– cardiotropic therapy;
– symptomatic therapy.
This case is interesting because the disease is extremely rare [1, 39]. The patient's condition is very ill. The cardiac insufficiency persists and increases. Treatment is symptomatic [2, 27], the main focus of treatment is the correction of the cardiac insufficiency. Disease prognosis is unfavorable. Heart transplantation is planned [3, 17].
- Butko E. A., K. Y. Konoshenko Restrictive cardiomyopathy. Medicine of Ukraine, 2017; № 7 (2013): 39–48.
- Ivkina S. S., Bubnevich T. E., Kravchuk Zh. P., Rumyantseva O. A. Cardiomyopathy in children (literature review). Health and environmental issues, 2012; № 3 (33): 22–28.
- Federal clinical recommendations for providing medical care to children with cardiomyopathies / ed. Council: Union of pediatricians of Russia, Association of pediatric cardiologists of Russia. — Moscow, 2014. — 23 p.: table.