Left ventricular non-compaction cardiomyopathy: clinical signs and treatment. clinical case description

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TOPICALITY

The left ventricular noncompaction cardiomyopathy, or the “spongy” myocardium is one of the rare primary forms of cardiomyopathies, the etiology of which is currently not completely clear. One of the reasons of developing this disease is the imperfect embryogenesis, as a result of which, from week 5–8 of the intrauterine development, the process of trabecular compaction gets impaired [1]. Currently, the research works are actively investigating the theory of the genetic origin of left ventricular noncompaction cardiomyopathy as a result of pathogenic gene mutations (sporadic or hereditary). The more commonly seen mode of inheritance is the autosomal dominant, the less frequent ones are the Х-linked recessive type, the autosomal recessive and the mitochondrial ones. The mutations which were associated with the development of left ventricular non-compaction cardiomyopathy were more often detected within the genes encoding the cytoskeleton and sarcomeric proteins [2–5].

In cases of noncompacted myocardium of the left ventricle, the signs include the hypertrabecularity of the myocardium with the formation of two layers — the normal one and the noncompacted one. The noncompacted layer is characteristic by the presence of deep inter-trabecular sinuses communicating with the left ventricle cavity [6–8]. The disease is rare to be seen: the incidence among the adult population ranges from 0.014% to 0.05%, the mortality is approximately 50% [9, 10]. The disease can have an asymptomatic course, also being able to manifest with the development of the progressive systolic dysfunction, resulting in the cardiac failure, the thromboembolic syndrome (ischemic stroke, ischemic myocardial infarction, pulmonary artery thromboembolism), with the cardiac rhythm disorders (atrial fibrillations, ventricular extrasystoles, ventricular tachycardia, ventricular fibrillations) and sudden cardiac death. The patients present with the complaints of shortness of breath at rest and after physical activity, palpitations, heart rhythm abnormalities, chest pain and fainting. Three forms of left ventricular noncompaction cardiomyopathy are known: the isolated one, the combined one with congenital heart defects and the combined one with neuromuscular diseases [11–13]. For the diagnostics of left ventricular non-compaction cardiomyopathy, instrumental methods of examination are used — the transthoracic echocardiography, the magnetic resonance imaging (MRI) of the heart (the gold standard of diagnostics) or the left ventricle angiography [14].

In case of the presence of clinical manifestations, symptomatic therapy is arranged, including the prevention of the development and the relief of the manifestations of chronic cardiac failure, the adjustment of antiarrhythmic therapy, the prevention of thromboembolic complications with prescribing the anticoagulant therapy. In cases of developing the life-threatening ventricular rhythm disorders, as the primary prevention of sudden cardiac death, the issue to be discussed is the necessity of implanting the cardioverter-defibrillator. At the terminal stage of the chronic cardiac failure and in the absence of the effect from conservative therapy, the indications for heart transplantation should be taken into account.

Here we provide an example of the diagnostics and the treatment of a rare cardiomyopathy variant in the settings of the regular regional hospital.

CLINICAL CASE DESCRIPTION

Patient information

Female patient, aged 29 years, admitted in August 2019 to the Cardiology Department of the Tambov Regional State Budgetary Healthcare Institution “Tambov City Clinical Hospital named after the Archbishop Luke” with the complaints of palpitations, cardiac rhythm abnormalities, shortness of breath when walking at usual speed, periodic shortness of breath at rest and in lying position, decrease of exercise tolerance.

Anamnesis vitae: the heredity is not burdened. Anamnesis morbi: from the age of ten years, the patient had palpitations and shortness of breath upon significant physical activity. In 2014 (at the age of 23 years), the examination at the Federal Center of Cardiovascular Surgery (ФЦССХ) of Penza she was diagnosed with the nonobstructive form of hypertrophic cardiomyopathy. The patient was not subsequently observed, the periodical episodes of cardiac rhythm irregularity were persisting.

From August 2016 (at the age of 25 years), with a background of the first pregnancy, the patient was reporting accelerated heart beat and cardiac rhythm abnormalities. In September 2016 (gestation age 8–9 weeks) she was undergoing the in-patient examination and treatment at the Cardiology Department of the Tambov Regional State Budgetary Healthcare Institution “Tambov City Clinical Hospital named after the Archbishop Luke”. The procedures included the Holter ECG monitoring (HM-ECG): 6237 ventricular extrasystoles per 24h, unstable paroxysms of supraventricular tachycardia; transthoracic echocardiography: significant symmetrical myocardial hypertrophy in the left ventricle, signs of obstruction LVOT were not detected. The patient was not presenting to receive the recommended consultation at the Federal Center for Cardiovascular Surgery to investigate the hypertrophic cardiomyopathy and the detected rhythm disorders.

In October 2016, the patient was noting the increased rate of palpitation episodes and episodes of cardiac rhythm abnormalities. The HM-ECG has revealed an increase in the number of ventricular extrasystoles up to 25 085 per 24h, with developing the unstable paroxysms of ventricular tachycardia up to 13 per 24h (Fig. 1). In November 2016, the patient has presented for consultation purposes to the Almazov National Medical Research Centre of the Ministry of Health of the Russian Federation with undergoing the differential diagnostics between the hypertrophic cardiomyopathy and the noncompacted myocardium of the left ventricle, the recommendations included performing the heart MRI (during the second half of pregnancy), β-blockers were also prescribed.

 

Fig. 1. Unstable paroxysm of ventricular tachycardia.

 

At the end of May 2017 (at the age of 26 years), in 2–3 weeks after the delivery, the patient was reporting an aggravation of her status: developing signs of chronic cardiac failure at the level of functional class III according to the cardiac failure classification system compiled by the New York Heart Association (NYHA), signs of constant palpitations and cardiac rhythm abnormalities. The electrocardiogram was showing atrial fibrillations. The patient was hospitalized to the Cardiology Department of the SBHI “Tambov Regional Clinical Hospital named after V.D. Babenko”. With a background of the diuretic (Furosemide at a dosage of 40 mg/day, Spironolactone at a dosage of 50 mg/day) and the pulse-decreasing (Bisoprolol — 5 mg/day, Digoxin — 250 µg/day) therapy, the severity of shortness of breath has decreased, but the tachycardia were persisting. The emergency cardioversion was not applied due to the long-term duration of rhythm disorders (more than 48 hours). In 5 days, the patient has refused to undergo further treatment, the heart MRI was not performed (not carried out in Tambov). At the out-patient phase, the recommendations included the intake of Bisoprolol at a dosage of 5 mg/day, Amiodarone (dosage adjustment with controlling the QT interval), Spironolactone at a dosage of 50 mg/day, Torasemide at a dosage of 5 mg/day and Rivaroxaban at a dosage of 20 mg/day.

At the beginning of June 2017, she was hospitalized to the Federal State Budgetary Institution “National Medical Research Center of Surgery named after A. Vishnevsky” of the Ministry of Health of the Russian. Based on the results of transthoracic echocardiography Echo-cardiography, hypertrabecularity of the myocardium and lacunarity were found in the area of the left ventricle apex, the dynamic evaluation comparing to the data from May 2017 was showing the progressing dilation of the heart cavities and the decrease in the left ventricle ejection fraction from 55% to 33%. The diagnosis set was the following: “Hypertrophic cardiomyopathy. Left ventricular non-compaction cardiomyopathy (?)”. The sinus rhythm was restored using the electric cardioversion, other findings included the growth of the left ventricle ejection fraction up to 39%. The recommendations also included a consultation by the arrhythmologist from the Federal Centers for Cardiovascular Surgery for discussing the issue of implanting the cardioverter-defibrillator, of arranging the electrophysiological examination and the RF ablation. The patient was discharged with an improvement: diminished shortness of breath at rest and swelling in the lower limbs; the recommendations included the continuation of the intake of Amiodarone — 200 mg/day, Spironolactone — 25 mg/day, Rivaroxaban — 20 mg/day. The heart MRI was not conducted due to the large number of extrasystoles.

Scheduled hospitalization to the Almazov National Medical Research Centre of the Ministry of Health of the Russian Federation in August 2017: the results of transthoracic echocardiography were showing no changes, the ejection fraction is decreased (42%). The HM-ECG with a background of taking Amiodarone shows the following: frequent ventricular extrasystoles (single, paired and grouped), occurrence heart rhythm pauses up to 2214 msec, persisting paroxysms of supraventricular tachycardia. The heart MRI was not done due to the large number of rhythm abnormalities. With a background of canceling Amiodarone and prescribing Metoprolol succinate, the results were the increase in the number of ventricular rhythm abnormalities, persisting heart rhythm pauses lasting up to 2.19 seconds. The intake of Amiodarone was re-initiated with continuing the dosage titration for Metoprolol succinate; Perindopril was prescribed at a dosage of 1 mg/day, continuing the intake of Rivaroxaban at a dosage of 20 mg/day and Spironolactone — 25 mg/day. On the background of ongoing therapy, the condition improves, clinical signs of heart failure are at the level of functional class II. Taking into consideration the presence of symptomatic atrial tachycardia with decreased ejection fraction down to 33%, repeated examination was recommended in 3 months for discussing the possibility of arranging the electrophysiological examination and conducting the RF ablation.

Upon hospitalization in April 2018 (at the age of 27 years), the evaluation of the trabecularity in the left ventricle was done with setting the diagnosis of left ventricular noncompaction cardiomyopathy. Based on the results of additional examination, arranging the RF ablation is not indicated, the paroxysms of supraventricular tachycardia are rare (Fig. 2), Amiodarone was cancelled, Bisoprolol at a dosage of 5 mg/day was prescribed, while the other treatment modalities were continued. Arranging the heart MRI was impossible due to frequent extrasystoles.

 

Fig. 2. Unstable paroxysm of supraventricular tachycardia.

 

From June 2019 (at the age of 28 years), the patient started developing a rapid irregular heartbeat beat with progressing shortness of breath and with a decrease in the exercise tolerance. In July 2019 she was receiving in-patient treatment at the Almazov National Medical Research Centre of the Ministry of Health of the Russian Federation: according to the data from transthoracic echocardiography, there was a decrease of the ejection fraction down to 22%, according to the data from HM-ECG (with a background of Bisoprolol at a dosage of 10 mg/day) — episodes of sinoatrial block grade II, sinus arrest, frequent ventricular extrasystoles (single, paired, grouped), paroxysms of ventricular and supraventricular tachycardia. With a background of prescribing Nebivolol and Carbamazepine, positive changes were observed: slower heart rate, less pronounced cardiac rhythm abnormalities. The recommendations included undergoing the transthoracic echocardiography, the dynamic HM-ECG with a background of therapy.

In August 2019, the patient had a relapse of rapid heart beat, of the heart rhythm abnormalities along with a decrease of exercise tolerance and with developing shortness of breath at rest. The HM-ECG results with a background of taking Nebivolol at a dosage of 10 mg/day were the following: atrial fibrillation-flutter, tachycardia tachysystoles, frequent ventricular extrasystoles, paroxysms of ventricular tachycardia. The patient was hospitalized to the Cardiology Department of the Tambov Regional SBHI “Tambov City Clinical Hospital named after the Archbishop Luke”.

Laboratory and Instrumental Diagnosis

Transthoracic echocardiography on admission: ejection fraction of the left ventricle — 35%; hypertrabecularity of the myocardium in the left ventricle (Fig. 3).

 

Fig. 3. The measurement of the non-compacted and the compact layer of the myocardium in the left ventricle at the parasternal position along the minor axis at the level of the papillary muscles at the end of diastole: 1 — dimensions-noncompacted layer + compact layer; 2 — dimensions-compact layer.

 

The general status has moderate severity. The lung auscultation reveals vesicular breathing in the lungs, no rales, the respiratory rate is 20/minute. The heart borders are dilated to the left. The heart tones are muffled and arrhythmic. Blood pressure — 110/70 mm. Hg. Ventricular contraction rate — 110 bpm. Swelling of the feet shin pastosity.

Diagnosis

Main: “Left ventricular noncompaction cardiomyopathy”. Complications: “Chronic cardiac failure stage IIb, functional class III acc. to NYHA. Paroxysmal-persistent form of atrial fibrillation — flutter. Cardiac rhythm disorder, type — frequent ventricular extrasystoles (single, paired, grouped). Unstable paroxysms of ventricular tachycardia”.

Therapy

Due to the long history of atrial fibrillations (more than 48 hours), the pulse-decreasing therapy was prescribed: Bisoprolol at a dosage of 10 mg in the morning, Spironolactone — 50 mg once daily, Furosemide at a dosage of 40 mg once daily, Rivaroxaban — 20 mg once daily. Angiotensin-converting enzyme inhibitors or angiotensin II receptor antagonists were not prescribed due to the patient being prone to hypotension.

With the background of conducted treatment, the findings included the spontaneous restoration of sinus rhythm, the elimination of shortness of breath at rest and the increase in the exercise tolerance. Amiodarone was prescribed: according to the HM-ECG data (with a background of taking Amiodarone), there was a decrease in the rate of ventricular extrasystoles; the paroxysms of ventricular or supraventricular tachycardia were not registered; the Echo-cardiography was showing an increase of the ejection fraction up to 46%. After the discharge, there were persisting short-term palpitations, heart rhythm abnormalities and shortness of breath upon usual physical activity. The repeated consultation was planned at the Federal Centers for Cardiovascular Surgery for the purpose of discussing the possibility of arranging the RF ablation.

From November 2019, the patient was once again noticing the increased heart rate with pauses in the heart rhythm and with a decrease of exercise tolerance.

In January 2020 (at the age of 29 years) was hospitalized to the Almazov National Medical Research Centre of the Ministry of Health of the Russian Federation. According to the data from HM-ECG, there were frequent supraventricular extrasystoles detected (11 892 per 24 h) with ventricular extrasystoles (4859 per 24 h), pauses lasting up to 2 280 msec, supraventricular tachycardia — up to three per 24h. Transthoracic echocardiography ejection fraction — 42–43%. The heart MRI with gadolinium was arranged with the following findings: signs of noncompacted myocardium. The following clinical diagnosis was confirmed: Left ventricular non-compaction cardiomyopathy. With a background of Amiodarone cancellation and with a Carvedilol dosage titration, there were persisting frequent unstable paroxysms of supraventricular and ventricular tachycardia, signs of chronic cardiac failure at the level of functional classes III–IV.

Due to the frequent episodes of rhythm disturbances (atrial fibrillation with high frequency alternates with sinus rhythm ) and due to the development of significant worsening in the heart parameters in the settings of the treatment with the addition of β-blockers, due to the tendency to developing the significant bradycardia and due to the occurring clinically significant heart rhythm pauses, accompanied by the frequent decompensation of chronic cardiac failure and by the short-term effect from the conservative therapy, the female patient was referred to the V.I. Shumakov Federal Research Center of Transplantology and Artificial Organs of the Ministry of Health of the Russian Federation for discussing the issue of undergoing heart transplantation. In May 2020 she was added to the waiting list for heart transplantation.

At the end of May of 2020, the patient was noticing the worsening of her status: shortness of breath developing upon the insignificant physical activity and at rest, increased heart rate. She was hospitalized to the V.I. Shumakov Federal Research Center of Transplantology and Artificial Organs of the Ministry of Health of the Russian Federation. Due to the progressing respiratory failure and the instability of circulatory parameters, the biventricular bypass system was implanted, supplemented by the extracorporeal membranous oxygenation as the shunt before the conduction of the orthotopic heart transplantation.

At the beginning of June 2020, the orthotopic heart transplantation was performed using the bicaval method. During the postoperative period, according to the endomyocardial biopsy data, cellular rejection was reported, which was resolved after three sessions of plasmapheresis and after the titration of Tacrolimus dosage.

Outcomes and Prognosis

The dynamic changes of the patient status during the follow-up period were positive, the hemodynamic parameters were stable, no shortness of breath was reported with satisfactory tolerance of physical activity. The patient was discharged for further out-patient treatment in generally satisfactory status.

Prognosis

Approximately 91% of the patients receiving the orthotopic heart transplant survive during the first year after the surgical intervention, however, the five-years survival rate in Russia is approximately 75%, with the ten years survival being 50%. Later on, these patients require a life-time follow-up at the Center for timely preventing various complications of the post-transplantation period and for receiving the immunosuppressive therapy. The main reasons of lethal outcome during the first years after the transplantation are the acute rejection of the transplanted heart and the infectious complications, while in the later periods — the coronary artery disease in the transplanted heart and the malignant neoplasms [15–17].

Currently, the female patient continues her follow-up at the V.I. Shumakov Federal Research Center of Transplantology and Artificial Organs of the Ministry of Health of the Russian Federation, receiving her immunosuppressive therapy, following her usual life style and being under medical supervision by the Cardiologist at place of residence. According to the transthoracic echocardiography data obtained on 20.04.2025, the functions of the transplant are satisfactory.

DISCUSSION

The article describes the clinical case of a rare cardiomyopathy — the left ventricular noncompaction cardiomyopathy. For the diagnostics of the left ventricular non-compaction cardiomyopathy, the current clinical practice most commonly employs the echocardiography-criteria by R. Jenni (2001): double-layered structure of the myocardium with thickness ratio of the noncompact layer to the compact one being >2 at the end of systole; hypertrabecularity of the myocardium the presence of intertrabecular circulation; absence of other heart malformations. However, taking into consideration the small number of the examined groups, the criteria could be non-specific [1, 14]. The gold standard of the diagnostics of left ventricular non-compaction cardiomyopathy is the heart MRI (contrasted). Sadly, due to various reasons, it is not always possible to arrange this examination, in particular, due to the presence of contraindications, the absence of equipment in the locality and the geographical remoteness from the federal centers.

The clinical signs in our patient during the onset of the disease were mainly represented by the heart rhythm disorder syndrome with further developing progressive cardiac failure. It is suggested that the mechanism of development for rhythm disorders is the spongy structure of the myocardium, which lead to the electric instability. Within the structure of the rhythm disorders, the ventricular arrhythmias prevail: ventricular tachycardia, ventricular extrasystoles, as well as the atrial fibrillations. The impaired normal architectonics of the myocardium causes the development of the systolic and the diastolic dysfunctions of the left ventricle. Later on, the disease progresses with the significant decrease in the myocardial contractility as a result of the absence of normal contractions in the non-compact layer of the myocardium, which takes the most part of the heart mass, and due to the presence of chronic microcirculatory ischemia, developing as a result of the insufficient blood supply in the non-compact layer.

Currently, there is no guideline compiled on the dynamic follow-up and treatment of patients with non-compacted myocardium of the left ventricle, which is mainly caused by the absence of clinical research works with the sufficient number of patients. The available research works cover only the separate aspects of therapy, such as the prescription of β-blockers, the anticoagulant therapy and the implantation of the cardioverter-defibrillator [14]

During the whole observation period, our patient underwent the procedures of attempting to adjust the anti-arrhythmic therapy: Amiodarone, pulse-decreasing therapy according (the drugs from the β-blockers group — Bisoprolol, Carvedilol, Metoprolol succinate); medicinal correction was attempted for the manifestations of chronic cardiac failure and consultations and hospitalizations to the Federal Centers for Cardiology and Cardiovascular Surgery for the correction and optimization of treatment.

Due to the absence of the effect from conservative therapy, due to the development of life-threatening rhythm disorders and of the terminal cardiac failure, the surgical tactics of heart transplantation was chosen [18]. After the surgical intervention, the patient has restored the exercise tolerance with a significant improvement of her quality of life.

CONCLUSION

The presented clinical case of the patient with noncompacted myocardium of the left ventricle demonstrates the progredient (progressive) variant of the disease development — within 4 years from the onset of the disease, there occurred the necessity of heart transplantation. To practice physicians and the functional diagnostics specialists should be aware of the presence of the rare forms of cardiomyopathies (including the ones with the asymptomatic course or with unpronounced clinical signs) for the timely diagnostics and for adequate therapy.

ADDITIONAL INFORMATION

Author contributions: L.S. Kiseleva, treatment and examination of the patient; L.С. Kiseleva, Е.Yu. Esina, I.V. Makedonskaya, search and analytical procedures, processing and discussion of the research results, manuscript writing. Thereby, all authors provided approval of the version to be published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Consent for publication: The authors received written informed voluntary consent from the patient to publish personal data, including photographs (with the face covered), in a scientific journal, including its electronic version (signed on 2019 Aug 19). The volume of published data was agreed upon with the patient.

Funding source: The study had no sponsorship.

Disclosure of interests: The authors declare that they have no competing interests.

Statement of originality: The authors did not use previously published information (text, illustrations, data) while conducting this work.

Data availability statement: The editorial policy regarding data sharing does not apply to this work, data can be published as open access.

Generative AI: Generative AI technologies were not used for this article creation.

About the authors

Lubov S. Kiseleva

City Clinical Hospital named after Archbishop Luke

Author for correspondence.
Email: demetra81@mail.ru
ORCID iD: 0000-0001-8229-5823
SPIN-code: 2471-1932
Russian Federation, Tambov

Elena Yu. Esina

Voronezh State Medical University

Email: elena.esina62@mail.ru
ORCID iD: 0000-0001-7048-9428
SPIN-code: 7732-7427

MD, PhD, Professor

Russian Federation, Voronezh

Irina Vladimirovna Makedonskaya

Peoples’ Friendship University of Russia

Email: i_riniya@mail.ru
ORCID iD: 0009-0007-6710-1024
Russian Federation, Moscow

References

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