|Number 09-03 Coincident Hypertrophic Cardiomyopathy and Left Ventricular Non-Compaction|
Number 09-03 Coincident Hypertrophic Cardiomyopathy and Left Ventricular Non-Compaction
Case from: Guillem Pons-Lladó*, Tomás Ripoll**, Alberto Berna**, Salvador Miralbés***.
Institute: Cardiac Imaging Unit*, Cardiology** and Radiology*** Departments, Clínica USP Palmaplanas, Palma de Mallorca (Balearic Islands), Spain
Clinical history: A 44 year old woman was diagnosed with Non-Obstructive Hypertrophic Cardiomyopathy (HCM) by echocardiography at the age of 30. An older brother also suffered from the disease and died suddenly at the age of 47, and a second one was diagnosed of dilated cardiomyopathy due to left ventricular non-compaction (LVNC) with malignant arrhythmias and treated with an intracardiac defibrillator. In a family screening, her son was also found to have HCM at age of 14.
The patient complains of occasional palpitation but there were no significant arrhythmias on the 24h Holter monitoring. A CMR study was ordered for risk stratification purposes.
Movie 1 Movie 2
Cine CMR: SSFP cine sequences (FIESTA) showed (Movie 1) hypertrophy of the interventricular septum with a maximal thickness of 23 mm at the mid-ventricular level, with an extremely thin free wall (4 mm). Short-axis series (Movie 2) showed the presence on an LVNC process involving mainly the basal and medial aspects of the left ventricular free wall, with a diastolic ratio of non-compacted to compacted myocardial wall of 4:1. Global ventricular systolic function was preserved.
Delayed contrast enhancement sequences: (Figure 1) showed only mild focal enhancement at the level of the inferior septum (red arrowheads).
In summary, the CMR study demonstrates the presence of definite signs of both HCM and LVNC, with only mild intramyocardial fibrosis and preserved left ventricular function.
Perspective: Anecdotal cases of LVNC in relatives of patients known to have HCM have been reported1. When systematically sought in a series of patients with an echocardiographic diagnosis of LVNC, criteria of HCM were found in 2 out of 732. A rationale for this association seems to lie in the finding that particular gene mutations known to cause familial HCM have been also described in families with LVNC3. A distinguishing feature of the present case is the presentation of LVNC involving the free wall of the left ventricle, with an extremely thin compacted portion at this level, whereas most of the described HCM-LVNC dual pathology have been reported in cases with apical involvement4.
1. Anderson RH. Ventricular non-compaction - a frequently ignored finding?. Eur Heart J 2008; 29: 10-1.
2. Biagini E, Ragni L, Ferlito M, Pasquale F, Lofiego C, Leone O, et al. Different types of cardiomyopathy associated with isolated ventricular noncompaction. Am J Cardiol 2006; 98: 821-4.
3. Hoedemaekers YM, Caliskan K, Majoor-Krakauer D, van de Laar I, Michels M, Witsenburg M, et al. Cardiac Beta-Myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies. Eur Heart J 2007; 28: 2732-7.
4. Monserrat L, Hermida-Prieto M, Fernandez X, Rodríguez I, Dumont C, Cazón L, et al. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur Heart J 2007; 28: 1953-61.
COTW handling editor: Chiara Bucciarelli-Ducci