New onset heart failure in a 29-year-old: a case report of isolated left ventricular noncompaction.Abstract: A previously healthy 29-year-old patient presented with new onset congestive heart failure congestive heart failure, inability of the heart to expel sufficient blood to keep pace with the metabolic demands of the body. In the healthy individual the heart can tolerate large increases of workload for a considerable length of time. . Based on findings on transthoracic transthoracic /trans·tho·rac·ic/ (-thah-ras´ik) through the thoracic cavity or across the chest wall.
Across or through the thoracic cavity or chest wall. echocardiogram ech·o·car·di·o·gram
A visual record produced by echocardiography.
A non-invasive ultrasound test that shows an image of the inside of the heart. (TTE) and cardiac magnetic resonance imaging magnetic resonance imaging (MRI), noninvasive diagnostic technique that uses nuclear magnetic resonance to produce cross-sectional images of organs and other internal body structures. (MRI 1. (application) MRI - Magnetic Resonance Imaging.
2. MRI - Measurement Requirements and Interface. ) at an outside center, the patient was diagnosed as having a dilated cardiomyopathy with structural abnormalities in the ventricular septum and left ventricular (LV) apex suspicious for myocardial myocardial /myo·car·di·al/ (-kahr´de-al) pertaining to the muscular tissue of the heart.
pertaining to the muscular tissue of the heart (the myocardium). tumor. After referral to our center for further management, repeat TTE revealed findings characteristic of left ventricular non-compaction (LVNC) with severely depressed overall LV systolic Systolic
The phase of blood circulation in which the heart's pumping chambers (ventricles) are actively pumping blood. The ventricles are squeezing (contracting) forcefully, and the pressure against the walls of the arteries is at its highest. function. Review of the outside cardiac MRI supported the diagnosis of LVNC. Final management consisted of traditional medical therapy for congestive heart failure, an implantable cardiac defibrillator (ICD ICD International Classification of Diseases (of the World Health Organization); intrauterine contraceptive device.
abbr. ), warfarin anticoagulation for the prevention of thromboembolism thromboembolism /throm·bo·em·bo·lism/ (-em´bo-lizm) obstruction of a blood vessel with thrombotic material carried by the blood from the site of origin to plug another vessel.
n. and referral for cardiac transplant.
Key Words: left ventricular noncompaction, cardiac MRI, echocardiography Echocardiography Definition
Echocardiography is a diagnostic test that uses ultrasound waves to create an image of the heart muscle. Ultrasound waves that rebound or echo off the heart can show the size, shape, and movement of the heart's valves and , cardiomyopathy, heart failure
This case report reviews the differential diagnosis between left ventricular noncompaction (LVNC) and other conditions. LVNC is a rare congenital cardiomyopathy that appears to result from the intrauterine arrest of endomyocardial morphogenesis morphogenesis /mor·pho·gen·e·sis/ (mor?fo-jen´e-sis) the evolution and development of form, as the development of the shape of a particular organ or part of the body, or the development undergone by individuals who attain the type to . (1-3) Two forms of this disorder have been described: an isolated form and a nonisolated form associated with other congenital heart disease congenital heart disease, any defect in the heart present at birth. There is evidence that some congenital heart defects are inherited, but the cause of most cases is unknown. (NLVNC). In the latter, ventricular septal defects, pulmonic pulmonic /pul·mon·ic/ (pul-mon´ik) pulmonary.
Of or relating to the lungs; pulmonary.
pulmonary. stenosis, and hypoplastic Hypoplastic
Incomplete or underdevelopment of a tissue or organ. Hypoplastic left heart syndrome is the most serious type of congenital heart disease.
Mentioned in: Congenital Heart Disease
adj left ventricle have been described to coexist. Presentation for patients with LVNC commonly includes symptoms of heart failure, cardiac arrhythmias, and thromboembolic thromboembolic
pertaining to or emanating from thromboembolism.
see thromboembolic colic. events. (4) The final diagnosis is commonly made in both children and adults with a transthoracic echocardiogram (TTE). (5) TTE typically reveals a dilated left ventricle with multiple prominent intraventricular trabeculations and recesses commonly involving the apical and midventricular segments.
A 29-year-old African-American female presented to her local cardiologist with new onset dyspnea on exertion dyspnea on exertion Cardiology Shortness of breath which occurs with effort, often a sign of heart failure or ischemia , lower extremity and abdominal swelling, orthopnea and paroxysmal nocturnal dyspnea paroxysmal nocturnal dyspnea
n. Abbr. PND
Acute dyspnea caused by the lung congestion and edema that results from partial heart failure and occurring suddenly at night, usually an hour or two after the individual has fallen asleep. . She underwent a transthoracic echocardiogram (TTE) that was interpreted as dilated cardiomyopathy with an ejection fraction < 30% and an unusual appearance of the ventricular septum and lateral wall suspicious for infiltration by possible tumor. Doppler showed moderate mitral regurgitation and moderate tricuspid regurgitation. The patient was transferred to a university hospital where she was diuresed and started on low-dose angiotensin-converting enzyme inhibition and beta blocker therapy. She improved and was discharged with scheduled outpatient cardiac magnetic resonance imaging (MRI) to further evaluate for the possible cardiac mass. The cardiac MRI revealed a severely dilated left ventricle (LV) with an ill-defined mass felt to be consistent with a malignancy, perhaps a rhabdomyosarcoma rhabdomyosarcoma /rhab·do·myo·sar·co·ma/ (mi?o-sahr-ko´mah) a highly malignant tumor of striated muscle derived from primitive mesenchymal cells. or angiosarcoma angiosarcoma /an·gio·sar·co·ma/ (an?je-o-sahr-ko´mah) a malignant neoplasm arising from vascular endothelial cells; the term may be used generally or may denote a subtype, such as hemangiosarcoma. . The patient was referred to our center for further management including potential myocardial biopsy to rule out intracardiac intracardiac /in·tra·car·di·ac/ (-kahr´de-ak) within the heart.
Within the heart.
within the heart. tumor. At our center, the patient underwent repeat TTE that revealed severe LV enlargement and a deeply trabeculated LV apex with multiple large recesses (Fig. 1). Low-scale color flow Doppler color flow Doppler Angiodynography Imaging A diagnostic procedure that uses ultrasound to image arteries–which show as red and veins–blue, to identify vascular obstruction confirmed that these recesses were perfused from the left ventricular cavity, characteristic of left ventricular noncompaction (LVNC, Fig. 2). Review of the outside cardiac MRI (Fig. 3 and 4) revealed findings that further supported the diagnosis. On review of family history, the patient denied any history of cardiac disease, congestive heart failure, arrhythmias or sudden death. Management based on the new diagnosis of LVNC included optimization of medical therapy for congestive heart failure, implantation of an ICD, warfarin anticoagulation for prevention of systemic thromboembolism and referral for cardiac transplant. Serial echocardiography has shown findings (further refuting the possibility of intracardiac tumor).
This case is remarkable because it involves new onset heart failure in a previously healthy young individual due to a rare congenital cardiac condition. The case confirms the importance of correctly identifying the defect using TTE, as making the diagnosis has a serious impact on prognosis and subsequent management decisions.
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Isolated left ventricular noncompaction (LVNC) is a rare congenital cardiomyopathy that appears to result from the intrauterine arrest of endomyocardial morphogenesis that occurs in week 5 to 8 of fetal life. (1-3) Noncompaction of the left ventricle has been categorized as an unclassified cardiomyopathy by the World Health Organization, having its own distinct cause and prognosis. (3) It is diagnosed in children and adults. Its common presentation involves heart failure, ventricular arrhythmias and thromboembolic events. (4) It is considered a rare disorder with a prevalence of 0.06% in all echocardiographic examinations performed over a 10-year period in an adult referral population. (6) A recent childhood population-based study suggests that the disease may be more frequent (6.9% in all primary cardiomyopathy patients).
LVNC does not have an invariably fatal course when diagnosed in the neonatal period. A significant number of patients have transient recovery of function followed by later deterioration, which may account for many patients presenting as adults. (7) Familial occurrence is common in the reported cases of LVNC, reaching up to 50% of cases in one study. (8-11) Although the unique echocardiographic picture may lead to the correct diagnosis of this condition, it is often misdiagnosed or unrecognized, commonly being mistaken for dilated or hypertrophic cardiomyopathy. (4)
Jenni et al (5) set criteria to accurately diagnose LVNC by echocardiography using 2-dimensional imaging and low scale color flow Doppler. Echocardiographic features include the presence of a thin (compacted) epicardium epicardium /epi·car·di·um/ (-kahr´de-um) the visceral pericardium.
n. pl. and a thick, spongy endocardial endocardial /en·do·car·di·al/ (-kahr´de-al)
1. situated or occurring within the heart.
2. pertaining to the endocardium.
1. situated or occurring within the heart.
2. (noncompacted) surface with extensive trabeculation and sinusoid sinusoid /si·nus·oid/ (si´nu-soid)
1. resembling a sinus.
2. a form of terminal blood channel consisting of a large, irregular anastomosing vessel having a lining of reticuloendothelium and found in the liver, formation. Communication between the left ventricular cavity and the deep intertrabecular recesses can be demonstrated by low scale color flow Doppler. In the majority of cases the noncompacted myocardium myocardium /myo·car·di·um/ (-kahr´de-um) the middle and thickest layer of the heart wall, composed of cardiac muscle.
hibernating myocardium see myocardial hibernation, under involves the mid lateral, apical, or inferior walls. (12) Usually a ratio of noncompacted/compacted zone [greater than or equal to] 2 is diagnostic for ventricular noncompaction; however, there have been patients identified with a ratio between 1.4 to 2.0. (12) Both LV systolic and diastolic dysfunction and right ventricular involvement have been described in individual patients with this condition. (12-14) In those with LV systolic dysfunction, the hypokinetic segments can occur in both the affected area and the surrounding normally compacted myocardial segments. (12) It should be emphasized that the LV systolic function may be preserved at the time of presentation. (15,16) One case series also suggests that abnormalities in the structure and coaptation coaptation /co·ap·ta·tion/ (ko-ap-ta´shun) the process of approximating, or joining together.
n. of mitral leaflets may be a specific echocardiographic finding for patients with LVNC, with or without preserved systolic function. (16)
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There is no specific treatment for LVNC and therapeutic measures are directed at dealing with the patient's symptoms (heart failure, cardiac arrhythmias, thromboembolic events) including consideration for cardiac transplantation. In one case series of 17 adult patients diagnosed with isolated LVNC (mean follow up of 6 years), eight of the patients died and two underwent cardiac transplantation. (4,17) In a larger case series of 34 patients followed for a mean of 44 months, 40% of patients had ventricular tachyarrhythmia tachyarrhythmia /tachy·ar·rhyth·mia/ (tak?e-ah-rith´me-ah) any disturbance of the heart rhythm in which the heart rate is abnormally increased.
n. and 35% died including six patients with sudden cardiac death Sudden Cardiac Death Definition
Sudden cardiac death (SCD) is an unexpected death due to heart problems, which occurs within one hour from the start of any cardiac-related symptoms. SCD is sometimes called cardiac arrest. . (10) Therefore, placement of an ICD should be strongly considered for long-term management. Because of the high incidence of complications, early diagnosis is important and screening of living relatives using echocardiography is warranted to detect asymptomatic patients within the family.
This case illustrates that LVNC can be easily misinterpreted as another form of cardiomyopathy or as an intracardiac mass, particularly among adult patients in whom the condition is rare. In this report we show how successful diagnosis of LVNC can be made with TTE through optimizing visualization of deep trabecular recesses and showing communication of these recesses with the LV cavity using off-axis angulation angulation /an·gu·la·tion/ (ang?gu-la´shun)
1. formation of a sharp obstructive bend, as in the intestine, ureter, or similar tubes.
2. deviation from a straight line, as in a badly set bone. and low scale color flow Doppler. Making this diagnosis is of major importance as it can significantly influence decisions on long-term management, on prognosis and on the need to screen living relatives.
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3. Tamborini G, Pepi M, Celeste Celeste is a woman's first name. Celeste may also refer to:
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That is true wisdom, to know how to alter one's mind when occasion Demands it. --Terence
Ervin H. Fox, MD, MPH, Michael L. Wood, MD, John Trotter, MD, and Charles Moore, MD
From the University of Mississippi Medical Center University of Mississippi Medical Center (UMC) is the health sciences campus of the University of Mississippi (Ole Miss). Located in Jackson, Mississippi (USA), it houses the Schools of Medicine, Dentistry, Nursing, Health Related Professions, and Graduate Studies in the Health , Jackson, MS.
Reprint requests to Ervin Fox, MD, MPH, Co-investigator, Jackson Heart Study, Assistant Professor of Medicine, University of MS Medical Center. 2500 North State Street, Jackson, MS 39216. Email: firstname.lastname@example.org
Accepted April 21, 2006.
RELATED ARTICLE: Key Points
* Isolated left ventricular noncompaction (LVNC) is a rare congenital cardiomyopathy that appears to result from the intrauterine arrest of endomyocardial morphogenesis that occurs in week 5 to 8 of fetal life.
* Its common presentation involves heart failure, ventricular arrhythmias and thromboembolic events.
* Familial occurrence is common in the reported cases of LVNC, reaching up to 50% of cases in one study.
* Echocardiographic features include the presence of a thin (compacted) epicardium, the presence of a thick, spongy endocardial (noncompacted) surface with extensive trabeculation and evidence of communication between the left ventricular cavity and the deep intertrabecular recesses on low scale color flow Doppler.
* There is no specific treatment for LVNC and therapeutic measures are directed at dealing with the patient's symptoms (heart failure, cardiac arrhythmias, thromboembolic events) and consideration for defibrillator placement and/or cardiac transplantation.