Noncompaction on Cardiac MRI in a Patient with Nail-Patella Syndrome and Mitochondriopathy

Prognosis of left ventricular hypertrabeculation/noncompaction is dependent on cardiac and neuromuscular comorbidity

“…Heart failure was the most frequent indication for echocardiography (n = 45), followed by anginal chest pain (n = 20), syncope (n = 6), search for cardiac involvement in myopathy (n = 7), screening of relatives of LVHT patients (n = 2), stroke or embolism (n = 3) and arterial hypertension (n = 3). The baseline data of 77 of these cases, diagnosed until February 2003, have been published previously [1,[13][14][15][16][17][18][19]. In 79 patients, LVHT was diagnosed in the investigating echocardiographic laboratory.…”

Age-dependency of cardiac and neuromuscular findings in left ventricular noncompaction

“…Heart failure was the most frequent indication for echocardiography (n = 45), followed by anginal chest pain (n = 20), syncope (n = 6), search for cardiac involvement in myopathy (n = 7), screening of relatives of LVHT patients (n = 2), stroke or embolism (n = 3) and arterial hypertension (n = 3). Seventy-seven of these cases, diagnosed until February 2003, have been published previously [3,4,7,[11][12][13][14][15]. In 79 patients, LVHT was primarily diagnosed.…”

Left Ventricular Non-compaction: Is It Genetic?

“…Finally, diagnosing the underlying condition enables more accurate genetic counseling for the family. Table 2 Syndromes and copy number variants (CNV) associated with LVNC Syndromes associated with aneuploidies Turner syndrome [1,43] Trisomy 21 [27] Trisomy 18 [5] Trisomy 13 [25] Syndromes associated with copy number variations Velocardiofacial syndrome [21,29] 1p36 deletion syndrome [4] Syndromes associated with neuromuscular diseases Duchenne muscular dystrophy; Becker muscular dystrophy [17,38] Limb girdle muscular dystrophy [20] Multiminicore disease [37] Other syndromes Sotos syndrome [24] Marfan syndrome [18] Noonan syndrome [2] LEOPARD syndrome [19] Cornelia De Lange syndrome [9] Roifman syndrome [22] Hypomelanosis of Ito [8] Nail patella syndrome [12] Other CNV 8p23.1 deletion [6] Trisomic for the 4q31 ? qter region and monosomic for the 1q43 ?…”