MYH7 mutation in a pedigree with familial dilated hypertrophic cardiomyopathy: A case report and review of literature

Table 1 Echocardiogram and cardiac magnetic resonance imaging characteristics of the proband, her aunt (II-4) and father (II-6)

	Proband (III-5)			Aunt (II-4)	Father (II-6)
	Echocardiogram (Figure 3A)	Echocardiogram (Figure 3B)	CMR (Figure 3C)
LA (mm)	34	38	54	45	59
LV (mm)	37	43	53	47	71
LVPW (mm)	10	10	-	8	7
IVS (mm)	21	18	21	14	10
LVEF (%)	72	64	63	45	38

LA: Left atrium; LV: Left ventricle; LVPW: Left ventricular posterior wall; IVS: Interventricular septum; CMR: Cardiac magnetic resonance imaging; LVEF: Left ventricular ejection fraction.

Table 2 Studies included in literature review

Ref.	Sex	Age of onset or diagnosis (year)	Size of LV (mm)	Clinical symptoms or signs	Number of cases
Morimoto et al[9]	Male	30	No available	AF, dyspnea, heart failure	1
Takemura et al[10]	Female	55	No available	Heart failure, paroxysmal AF	1
Kuno et al[11]	Male	40	54	Appetite loss, hearing loss	1
Kitahara et al[12]	Female	19	63	No obvious symptoms	1
Higashi et al[13]	Female	53	No available	Chest pain, dyspnea, and MR	1
Miyoshi et al[14]	Male	55	No available	Sustained VT, chronic AF	1
Kolekar et al[15]	Male	61	No available	Congestive heart failure, stroke, scar epilepsy, AF and VT	1
Kitamura et al[16]	Male	56	65	Congestive heart failure and sustained VT	1
Sato et al[17]	Female	27	56	Dyspnea, heart failure	1
Tanaka et al[18]	Female	53	No available	Heart failure	1
Sato et al[19]	Female	43	69.7	VT, severe heart Failure, shortness of breath and dyspnea, aneurysmal changes from the mid-septal region to the apex and NSVT	1
Canpolat et al[20]	Male	10	62	Exertional dyspnea and limited exercise capacity	1
Ueda et al[21]	Male	Mean age 67	Mean 57	Heart failure, sustained monomorphic VT	5
Fukuzawa et al[22]	Male	48	55	Dyspnea, palpitation, atrial flutter, NSVT, diastolic dysfunction	1
Matsushita et al[23]	Female	16	No available	Severe mid-ventricular obstruction	1
Ueno et al[24]	Male	57	68	Heart failure, MR	1
Matsuo et al[25]	Male	57	60	Dyspnea and NYHA functional class III heart failure	1
Benezet-Mazuecos et al[26]	Male	48	59	Congestive heart failure, LBBB	1
Kawai et al[27]	Male	38	52	AF, NSVT, premature ventricular contractions	1
Suzuki et al[28]	Male	60	44	AF, tricuspid regurgitation	1
Matsuda et al[29]	Male	47	69	Congestive heart failure	1
Akazawa et al[30]	Female	38	56	Fatigue and dyspnoea on exertion, heart failure	1

AF: Atrial fibrillation; MR: Mitral regurgitation; VT: Ventricular tachycardia; NSVT: Non-sustained VT; NYHA: New York Heart Association; LBBB: Left bundle branch block.