Case Presentation: A 87 year old female with history of Left ventricular non-compaction(LVNC), HFrEF with EF25-30%, CAD, hypertension, hyperlipidemia presented with acute dyspnea. She denied chest pain, palpitation, lightheadedness. Exam revealed tachycardia, tachypnea and hypoxia, saturating 70% on RA, but no signs of volume overload with baseline chronic lower extremity edema. Her laboratory data showed elevated white count, venous lactate elevated ProBNP and acute kidney injury. Her troponin peaked at 64 ng/mg. The EKG showed chronic LBBB. Chest xray was suggestive of flash pulmonary edema. She was placed on BIPAP and started on diuretics. Echocardiogram showed worsening EF 15-20 %, diffuse hypokinesis and severe mitral regurgitation with prolapse of posterior leaflet. The absence of signs of heart failure on physical exam, no EKG changes and the echo finding was highly suspicious for a more ominous etiology like mitral cordae tendinae rupture
Discussion: LVNC is a rare form of cardiomyopathy. Prevalence estimated at 0.014-1.3% in those undergoing echocardiography and reaches 3-4% among patient with heart failure. It may be sporadic or familial where more than 10 genes coding for sarcomeric, cytoskeletal, Z-line, and mitochondrial proteins have been described. It is characterized by prominent left ventricular trabeculae and deep intertrabecular recesses due to the arrest of endomyocardial morphogenesis during embryogenesisIt usually affects the left ventricle, but may also affect the right ventricle. It may be diagnosed at any age, but many people are not diagnosed until later in life, when they develop symptoms. Patients are at increased risk of worsening heart failure and usually they have a low functional status on baseline where 1/3 of patient has NYHA functional class III or IV heart failure. Mitral regurgitation has been associated with LVNC where abnormalities in the papillary muscle anatomy may predispose to MR as in this index patient. Sudden worsen of dyspnea in this type of patient can be attributed not only due to worsening of heart failure but they have high association with atrial and ventricular arrhythmia which can lead to acute events. They have an abnormal anatomy and already regurgitating mitral valve a sudden change on clinical status and acute worsening of regurgitation can be related to acute rupture of chords on papillary muscle leading to flash pulmonary edema, heart failure with increased mortality. The diagnosis of LVNC is established by echocardiography. Treatment varies with the clinical manifestations. Cardiac transplantation can be considered in patients with end-stage heart failure
Conclusions: Left ventricular non-compaction is a recently recognized, rare form of cardiomyopathy. Early diagnosis and treatment is required as these patients are high risk for fatal outcomes from heart failure, arrhythmias or thromboembolic events. Clinician awareness is essential for early treatment and management of fatal complications.