ABSTRACT
Non-compaction cardiomyopathy (NCC) is characterized by trabeculations in either one or both ventricles. Clinical presentation is highly variable: dyspnea, palpitation, thromboembolic events, arrhythmia, or sudden cardiac death. There are currently no universally-accepted criteria for classifying and diagnosing left ventricular non-compaction (LVNC) cardiomyopathy. Transthoracic echocardiography (TTE) is the diagnostic exam of choice. The diagnosis is often missed or delayed because of a lack of knowledge about this uncommon disease. Progression of LVNC is highly variable and prognosis is very difficult to predict. We report a case of a 50-year-old female patient with a history of total thyroidectomy under hormonal supplementation who consults for dyspnea and paroxysmal palpitations revealing an isolated LVNC. This case emphasizes the importance of imaging techniques, which are, TTE and cardiac magnetic resonance imaging (MRI) in early diagnosis, management, and follow-up.
ABSTRACT
LVNC (left ventricular non-compaction) is a rare congenital cardiomyopathy with a reported incidence of 0.05% in adults. It can occur in isolation or affect both ventricles. It’s characterized by prominent LV trabeculae and deep intertrabecular recesses which are filled with blood from the ventricular cavity without evidence of communication to the epicardial coronary artery system. Frequent premature supra ventricular tachycardia as unique finding in LVNC cardiomyopathy is rare manifestation of this disease. We report a case of a frequent persistent supraventricular tachycardia as first manifestation of a patient with LVNC cardiomyopathy in a young healthy woman who despite radio frequency ablation therapy of the supraventricular tachycardia remains symptomatic. The patient was later placed on medical therapy based on a non-cardio selective beta-blocker with a good clinical outcome without recurrent of supra-ventricular arrythmias.
ABSTRACT
Introduction@#Left ventricular non-compaction (LVNC) is a rare form of cardiomyopathy that may occur in isolation or with an associated cardiac anomaly. It presents with a wide array of manifestations, prompting early recognition to be imperative to prevent progression of symptoms.@*Case presentation@#We report a case of a 46-year-old male complaining of palpitations for 10 years who survived sudden cardiac arrest on the same year as symptom onset. Consult was advised but was not done until he had heart failure symptoms. Carvedilol, furosemide and digoxin were given. Initially, some improvement was noted but he later developed dyspnea on exertion prompting consult at our institution. Pertinent physical examination findings include a dynamic precordium, apex beat at sixth left intercostal space-anterior axillary line (LICS AAL), right ventricular heave, distinct heart sounds, normal rate, irregularly irregular rhythm, a grade 4/6 continuous murmur heard best at the left upper sternal border, suggestive of patent ductus arteriosus (PDA), and a grade 3/6 holosystolic murmur at the apex radiating to the axilla, suggestive of mitral regurgitation. Transthoracic echocardiography confirmed presence of a PDA (0.8cm) with left to right shunt and Qp/Qs of 2.7:1. Incidental finding of LVNC was noted characterized by prominent ventricular trabeculations and deep intertrabecular recesses. Optimal medical treatment for heart failure was given with symptomatic relief. Surgical closure of the PDA was contemplated after hemodynamic studies can confirm the absence of irreversible pulmonary hypertension.@*Discussion@#Patients with LVNC may be asymptomatic or may present with heart failure, sudden cardiac death or arrhythmias. The diagnosis of LVNC poses a diagnostic challenge. Echocardiography is a cost-effective diagnostic tool that will allow early diagnosis. Cardiac magnetic resonance (CMR) imaging is an alternative diagnostic modality. Once the diagnosis has been confirmed, prompt initiation of guideline-directed medical treatment for heart failure may prevent progression of disease.@*Conclusion@#Left ventricular non-compaction may occur in isolation or in association with other congenital heart diseases such as patent ductus arteriosus. Closure of a PDA is indicated in the presence of a significant shunt and with confirmation of acute reversibility in the presence of pulmonary hypertension to prevent the possibility of decompensation in a patient with heart failure.
Subject(s)
Ductus Arteriosus, Patent , Cardiomyopathies , Death, Sudden, CardiacABSTRACT
The fact that different types of cardiomyopathies can be manifested by the same sarcomere protein gene mutation in a single family is well known. However, mixed features of different types of cardiomyopathies in a single patient have not been well appreciated. We identified a novel mutation in cardiac troponin I3 (Arg186Gly) in the present case, and two of the family members showed mixed morphologic features of hypertrophic cardiomyopathy and left ventricular non-compaction. Moreover, both the features of cardiomyopathies were not apparent for each type of cardiomyopathy. In the patient's family, four other members had unexpected deaths before the age of 30.