54-year-old woman. She consulted the Hereditary Cardiomyopathies department for a genetic study due to family history.

HISTORY, CURRENT DISEASE AND PHYSICAL EXAMINATION

Personal history
CVRF: family history of early sudden death, early complete atrioventricular block, early complete AVB and dilated cardiomyopathy. No known hypertension, diabetes mellitus or dyslipidaemia.
No previous cardiological history.
No other history of interest.
No home medication.

Family history:
63-year-old brother (index case): atrial fibrillation (AF) and complete AVB with pacemaker implantation at age 50. DCM (LVEF 34%) with normal coronary angiography. Monomorphic SVT and syncope with ICD implantation at 57 years of age.
59-year-old brother with complete AVB and pacemaker implantation at age 49. Normal TTE.
55-year-old brother with complete AVB and pacemaker implantation at age 50. TTE this year with LVEF 30-35%. Mild-moderate dilatation of the left ventricle (LV).
All of them have LMNA p332fs mutation.
Two maternal uncles, mother and brother died of sudden death before the age of 55.

Current disease
Consultation for screening for LMNA p332fs mutation. Asymptomatic. Asthenia in the last year which has not prevented her from leading a normal life. After finding a complete AVB in the ECG, she was admitted.

Physical examination
Afebrile. HR 50 bpm. BP 143/83 mmHg. SatO2 99 %. AC: RsCsRs with mitral systolic murmur II/VI. AP: VCM. Abdomen nondescript. EEII without oedema.

COMPLEMENTARY TESTS
ECG: AF at 37 bpm with complete paroxysmal AVB.
Transthoracic echocardiography: mild LV dilatation. Slightly depressed systolic function (LVEF 45%). Mild-moderate functional MR.
Telemetry: asymptomatic slow AF with self-limited bouts of full BAV with narrow QRS nodal escape and no pauses or VT.
Blood count and coagulation: normal. Biochemistry: normal CK and NT-proBNP 1238 pg/ml.
Genetic study: carrier of LMNA p332fs mutation.

EVOLUTION
During hospitalisation, telemetry showed asymptomatic slow AF with self-limited bouts of complete AVB with narrow QRS nodal escape and no pauses, remaining asymptomatic.
The problem we faced was to decide which device to implant in this patient (conventional pacemaker, ICD, ICD-CRT) and also to continue the family screening study for the mutation.
Finally, the decision was made to implant an ICD-CRT, in accordance with the available scientific evidence (see discussion).

DIAGNOSIS
Slow atrial fibrillation with spells of complete atrioventricular block.
Familial dilated cardiomyopathy (DCM) with dilated left ventricle with mild-moderate systolic dysfunction (LVEF 45%).
Carrier of LMNA p 332fs mutation.
Extensive family history of sudden death, complete AVB and dilated cardiomyopathy.
